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    Structured Review

    Proteintech pikachurin
    (A) Schematic representation of electroretinogram (ERG) components. An initial negative deflection (a-wave) is observed upon photoreceptor stimulation (arrow) that is followed by a subsequent positive deflection (b-wave) that corresponds to bipolar cell activity. ERG waveform quantification involves measuring the amplitude (μV) and latency (ms) of the a- and b-waves to increasing stimulus intensities (cd.s/m 2 ) and thus provides an evaluation of retinal function. (B) Representative dark-adapted scotopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines represent individual mice. (C – D) Quantifcation of photoreceptor amplitude (C) and latency (D) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in repsonse to a series of increasing scotopic flash stimuli (log cd.s/m 2 ). No significant differences are observed between the groups. (E – F) Quantification of bipolar cell amplitude (E) and latency (F) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) towards increasing scotopic flash stimuli (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities (E) albeit with similar latency (F). (G) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single UV flash stimulus (log 1.00 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (H) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to an increasing photopic UV stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (I) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single green flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (J) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to a photopic green stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (K – R) Representative immunohistochemical staining of coronal eye sections taken from Lhx2-Cre and Lhx2-Cre:Dyrk1a +/f adult mice (6 – 8 weeks) across four designated dorsoventral quadrants (D1, D2, V3 and V4) spanning the entire retina relative to the optic nerve head. OPL ribbon synapse assemblies appear comparable in both groups (K – R, arrowheads) and were composed of dense photoreceptor terminals (vGlut1 + ) that overlapped with well organised bipolar cell dendritic processes (PKCα + ). Additionally, the linear alignment of all ribbon junctions <t>(Pikachurin</t> + ) indicated intact photoreceptor and bipolar cell synapses. All data represents the mean ± SEM. Statistical differences were calculated using a two-way ANOVA followed by a Sidak’s multiple comparison test. p-values are denoted as follows: **p≤ 0.01, ***p≤ 0.001 and ****p≤ 0.0001. Scale bar: (K – R) 5 µm. Abbreviations: D, dorsal; GCL, ganglion cell layer; INL, inner nuclear layer; IPL, inner plexiform layer; ONL, outer nuclear layer; OPL, outer plexiform layer; V, ventral.
    Pikachurin, supplied by Proteintech, used in various techniques. Bioz Stars score: 93/100, based on 7 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/pikachurin/Pikachurin+Antibody/bio_rxiv__64898__2026__03__15__710015-170-56-58
    Average 93 stars, based on 7 article reviews
    pikachurin - by Bioz Stars, 2026-11
    93/100 stars

    Images

    1) Product Images from "Dyrk1a gene dosage controls bipolar cell development and retinal connectivity"

    Article Title: Dyrk1a gene dosage controls bipolar cell development and retinal connectivity

    Journal: bioRxiv

    doi: 10.64898/2026.03.15.710015

    (A) Schematic representation of electroretinogram (ERG) components. An initial negative deflection (a-wave) is observed upon photoreceptor stimulation (arrow) that is followed by a subsequent positive deflection (b-wave) that corresponds to bipolar cell activity. ERG waveform quantification involves measuring the amplitude (μV) and latency (ms) of the a- and b-waves to increasing stimulus intensities (cd.s/m 2 ) and thus provides an evaluation of retinal function. (B) Representative dark-adapted scotopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines represent individual mice. (C – D) Quantifcation of photoreceptor amplitude (C) and latency (D) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in repsonse to a series of increasing scotopic flash stimuli (log cd.s/m 2 ). No significant differences are observed between the groups. (E – F) Quantification of bipolar cell amplitude (E) and latency (F) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) towards increasing scotopic flash stimuli (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities (E) albeit with similar latency (F). (G) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single UV flash stimulus (log 1.00 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (H) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to an increasing photopic UV stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (I) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single green flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (J) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to a photopic green stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (K – R) Representative immunohistochemical staining of coronal eye sections taken from Lhx2-Cre and Lhx2-Cre:Dyrk1a +/f adult mice (6 – 8 weeks) across four designated dorsoventral quadrants (D1, D2, V3 and V4) spanning the entire retina relative to the optic nerve head. OPL ribbon synapse assemblies appear comparable in both groups (K – R, arrowheads) and were composed of dense photoreceptor terminals (vGlut1 + ) that overlapped with well organised bipolar cell dendritic processes (PKCα + ). Additionally, the linear alignment of all ribbon junctions (Pikachurin + ) indicated intact photoreceptor and bipolar cell synapses. All data represents the mean ± SEM. Statistical differences were calculated using a two-way ANOVA followed by a Sidak’s multiple comparison test. p-values are denoted as follows: **p≤ 0.01, ***p≤ 0.001 and ****p≤ 0.0001. Scale bar: (K – R) 5 µm. Abbreviations: D, dorsal; GCL, ganglion cell layer; INL, inner nuclear layer; IPL, inner plexiform layer; ONL, outer nuclear layer; OPL, outer plexiform layer; V, ventral.
    Figure Legend Snippet: (A) Schematic representation of electroretinogram (ERG) components. An initial negative deflection (a-wave) is observed upon photoreceptor stimulation (arrow) that is followed by a subsequent positive deflection (b-wave) that corresponds to bipolar cell activity. ERG waveform quantification involves measuring the amplitude (μV) and latency (ms) of the a- and b-waves to increasing stimulus intensities (cd.s/m 2 ) and thus provides an evaluation of retinal function. (B) Representative dark-adapted scotopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines represent individual mice. (C – D) Quantifcation of photoreceptor amplitude (C) and latency (D) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in repsonse to a series of increasing scotopic flash stimuli (log cd.s/m 2 ). No significant differences are observed between the groups. (E – F) Quantification of bipolar cell amplitude (E) and latency (F) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) towards increasing scotopic flash stimuli (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities (E) albeit with similar latency (F). (G) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single UV flash stimulus (log 1.00 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (H) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to an increasing photopic UV stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (I) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single green flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (J) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to a photopic green stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (K – R) Representative immunohistochemical staining of coronal eye sections taken from Lhx2-Cre and Lhx2-Cre:Dyrk1a +/f adult mice (6 – 8 weeks) across four designated dorsoventral quadrants (D1, D2, V3 and V4) spanning the entire retina relative to the optic nerve head. OPL ribbon synapse assemblies appear comparable in both groups (K – R, arrowheads) and were composed of dense photoreceptor terminals (vGlut1 + ) that overlapped with well organised bipolar cell dendritic processes (PKCα + ). Additionally, the linear alignment of all ribbon junctions (Pikachurin + ) indicated intact photoreceptor and bipolar cell synapses. All data represents the mean ± SEM. Statistical differences were calculated using a two-way ANOVA followed by a Sidak’s multiple comparison test. p-values are denoted as follows: **p≤ 0.01, ***p≤ 0.001 and ****p≤ 0.0001. Scale bar: (K – R) 5 µm. Abbreviations: D, dorsal; GCL, ganglion cell layer; INL, inner nuclear layer; IPL, inner plexiform layer; ONL, outer nuclear layer; OPL, outer plexiform layer; V, ventral.

    Techniques Used: Activity Assay, Immunohistochemical staining, Staining, Comparison

    Related Articles

    Activity Assay:

    Article Title: Dyrk1a gene dosage controls bipolar cell development and retinal connectivity
    Article Snippet: Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.. The following primary antibodies and dilutions were used in this study: Calbindin (1:300, Sigma-Aldrich, #C9848); Calretinin (1:1000, Swant, #CG1); cleaved Caspase3 (Asp175) (1:500, Cell Signalling, #9661S); chAT (1:100, Millipore, #AB144P); Chx10 (1:50, SCBT, #SC365519); Dyrk1a (1:100, Novus, #NBP1-84032); Isl1/2 (recognises both Isl1 and Isl2 proteins) (1:500; DSHB, #39.4D5); M-opsin (1:500, Proteintech, #30975-1-AP); Pax6 (1:100, DSHB, #Pax6); Pikachurin (1:200, Proteintech, #14578-1-AP); Rhodopsin (1:500, Millipore, #MABN15); S-opsin (1:500, Proteintech, #24660-1-AP); TH (1:300, Millipore, #AB152); vGlut1 (1:2000, Millipore, #AB5905).

    Article Title: Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
    Article Snippet: Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.. For the IF, the following antibodies were used: danti-PKCA (SC-8393; Santa Cruz, Dallas, TX, USA), anti-mGluR6 (from Dr. Melina A. Agosto), anti-TRPM1 (from Dr. Melina A. Agosto), anti-CtBP2 (10346-1-AP; Proteintech, Rosemont, IL, USA), anti-GoA (MAB-3073; Millipore–Sigma, Burlington, MA, USA), anti-PSD95 (AB18258; Abcam, Cambridge, MA, USA), Pikachurin (14578-1-AP; Proteintech), Bassoon (SAP7F407; Enzo Life Sciences, Farmingdale, NY, USA), and anti-GFP (AB-3080, MAB-3580; Millipore–Sigma) ( ).. Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).

    Immunohistochemical staining:

    Article Title: Dyrk1a gene dosage controls bipolar cell development and retinal connectivity
    Article Snippet: Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.. The following primary antibodies and dilutions were used in this study: Calbindin (1:300, Sigma-Aldrich, #C9848); Calretinin (1:1000, Swant, #CG1); cleaved Caspase3 (Asp175) (1:500, Cell Signalling, #9661S); chAT (1:100, Millipore, #AB144P); Chx10 (1:50, SCBT, #SC365519); Dyrk1a (1:100, Novus, #NBP1-84032); Isl1/2 (recognises both Isl1 and Isl2 proteins) (1:500; DSHB, #39.4D5); M-opsin (1:500, Proteintech, #30975-1-AP); Pax6 (1:100, DSHB, #Pax6); Pikachurin (1:200, Proteintech, #14578-1-AP); Rhodopsin (1:500, Millipore, #MABN15); S-opsin (1:500, Proteintech, #24660-1-AP); TH (1:300, Millipore, #AB152); vGlut1 (1:2000, Millipore, #AB5905).

    Article Title: Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
    Article Snippet: Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.. For the IF, the following antibodies were used: danti-PKCA (SC-8393; Santa Cruz, Dallas, TX, USA), anti-mGluR6 (from Dr. Melina A. Agosto), anti-TRPM1 (from Dr. Melina A. Agosto), anti-CtBP2 (10346-1-AP; Proteintech, Rosemont, IL, USA), anti-GoA (MAB-3073; Millipore–Sigma, Burlington, MA, USA), anti-PSD95 (AB18258; Abcam, Cambridge, MA, USA), Pikachurin (14578-1-AP; Proteintech), Bassoon (SAP7F407; Enzo Life Sciences, Farmingdale, NY, USA), and anti-GFP (AB-3080, MAB-3580; Millipore–Sigma) ( ).. Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).

    Staining:

    Article Title: Dyrk1a gene dosage controls bipolar cell development and retinal connectivity
    Article Snippet: Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.. The following primary antibodies and dilutions were used in this study: Calbindin (1:300, Sigma-Aldrich, #C9848); Calretinin (1:1000, Swant, #CG1); cleaved Caspase3 (Asp175) (1:500, Cell Signalling, #9661S); chAT (1:100, Millipore, #AB144P); Chx10 (1:50, SCBT, #SC365519); Dyrk1a (1:100, Novus, #NBP1-84032); Isl1/2 (recognises both Isl1 and Isl2 proteins) (1:500; DSHB, #39.4D5); M-opsin (1:500, Proteintech, #30975-1-AP); Pax6 (1:100, DSHB, #Pax6); Pikachurin (1:200, Proteintech, #14578-1-AP); Rhodopsin (1:500, Millipore, #MABN15); S-opsin (1:500, Proteintech, #24660-1-AP); TH (1:300, Millipore, #AB152); vGlut1 (1:2000, Millipore, #AB5905).

    Article Title: Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
    Article Snippet: Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.. For the IF, the following antibodies were used: danti-PKCA (SC-8393; Santa Cruz, Dallas, TX, USA), anti-mGluR6 (from Dr. Melina A. Agosto), anti-TRPM1 (from Dr. Melina A. Agosto), anti-CtBP2 (10346-1-AP; Proteintech, Rosemont, IL, USA), anti-GoA (MAB-3073; Millipore–Sigma, Burlington, MA, USA), anti-PSD95 (AB18258; Abcam, Cambridge, MA, USA), Pikachurin (14578-1-AP; Proteintech), Bassoon (SAP7F407; Enzo Life Sciences, Farmingdale, NY, USA), and anti-GFP (AB-3080, MAB-3580; Millipore–Sigma) ( ).. Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).

    Comparison:

    Article Title: Dyrk1a gene dosage controls bipolar cell development and retinal connectivity
    Article Snippet: Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.. The following primary antibodies and dilutions were used in this study: Calbindin (1:300, Sigma-Aldrich, #C9848); Calretinin (1:1000, Swant, #CG1); cleaved Caspase3 (Asp175) (1:500, Cell Signalling, #9661S); chAT (1:100, Millipore, #AB144P); Chx10 (1:50, SCBT, #SC365519); Dyrk1a (1:100, Novus, #NBP1-84032); Isl1/2 (recognises both Isl1 and Isl2 proteins) (1:500; DSHB, #39.4D5); M-opsin (1:500, Proteintech, #30975-1-AP); Pax6 (1:100, DSHB, #Pax6); Pikachurin (1:200, Proteintech, #14578-1-AP); Rhodopsin (1:500, Millipore, #MABN15); S-opsin (1:500, Proteintech, #24660-1-AP); TH (1:300, Millipore, #AB152); vGlut1 (1:2000, Millipore, #AB5905).

    Article Title: Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
    Article Snippet: Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.. For the IF, the following antibodies were used: danti-PKCA (SC-8393; Santa Cruz, Dallas, TX, USA), anti-mGluR6 (from Dr. Melina A. Agosto), anti-TRPM1 (from Dr. Melina A. Agosto), anti-CtBP2 (10346-1-AP; Proteintech, Rosemont, IL, USA), anti-GoA (MAB-3073; Millipore–Sigma, Burlington, MA, USA), anti-PSD95 (AB18258; Abcam, Cambridge, MA, USA), Pikachurin (14578-1-AP; Proteintech), Bassoon (SAP7F407; Enzo Life Sciences, Farmingdale, NY, USA), and anti-GFP (AB-3080, MAB-3580; Millipore–Sigma) ( ).. Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).

    Western Blot:

    Article Title: Dyrk1a gene dosage controls bipolar cell development and retinal connectivity
    Article Snippet: Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.Blocking Reagent (Vector Labs) was used in experiments involving monoclonal primary antibodies.. The following primary antibodies and dilutions were used in this study: Calbindin (1:300, Sigma-Aldrich, #C9848); Calretinin (1:1000, Swant, #CG1); cleaved Caspase3 (Asp175) (1:500, Cell Signalling, #9661S); chAT (1:100, Millipore, #AB144P); Chx10 (1:50, SCBT, #SC365519); Dyrk1a (1:100, Novus, #NBP1-84032); Isl1/2 (recognises both Isl1 and Isl2 proteins) (1:500; DSHB, #39.4D5); M-opsin (1:500, Proteintech, #30975-1-AP); Pax6 (1:100, DSHB, #Pax6); Pikachurin (1:200, Proteintech, #14578-1-AP); Rhodopsin (1:500, Millipore, #MABN15); S-opsin (1:500, Proteintech, #24660-1-AP); TH (1:300, Millipore, #AB152); vGlut1 (1:2000, Millipore, #AB5905).

    Article Title: Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
    Article Snippet: Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.Hematoxylin and eosin staining and IF staining of retinal cryosections were conducted using previously described methods.. For the IF, the following antibodies were used: danti-PKCA (SC-8393; Santa Cruz, Dallas, TX, USA), anti-mGluR6 (from Dr. Melina A. Agosto), anti-TRPM1 (from Dr. Melina A. Agosto), anti-CtBP2 (10346-1-AP; Proteintech, Rosemont, IL, USA), anti-GoA (MAB-3073; Millipore–Sigma, Burlington, MA, USA), anti-PSD95 (AB18258; Abcam, Cambridge, MA, USA), Pikachurin (14578-1-AP; Proteintech), Bassoon (SAP7F407; Enzo Life Sciences, Farmingdale, NY, USA), and anti-GFP (AB-3080, MAB-3580; Millipore–Sigma) ( ).. Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).Secondary antibodies labeled with Cy2, Cy3, or Cy5 were used ( ).



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    Proteintech pikachurin
    (A) Schematic representation of electroretinogram (ERG) components. An initial negative deflection (a-wave) is observed upon photoreceptor stimulation (arrow) that is followed by a subsequent positive deflection (b-wave) that corresponds to bipolar cell activity. ERG waveform quantification involves measuring the amplitude (μV) and latency (ms) of the a- and b-waves to increasing stimulus intensities (cd.s/m 2 ) and thus provides an evaluation of retinal function. (B) Representative dark-adapted scotopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines represent individual mice. (C – D) Quantifcation of photoreceptor amplitude (C) and latency (D) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in repsonse to a series of increasing scotopic flash stimuli (log cd.s/m 2 ). No significant differences are observed between the groups. (E – F) Quantification of bipolar cell amplitude (E) and latency (F) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) towards increasing scotopic flash stimuli (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities (E) albeit with similar latency (F). (G) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single UV flash stimulus (log 1.00 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (H) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to an increasing photopic UV stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (I) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single green flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (J) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to a photopic green stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (K – R) Representative immunohistochemical staining of coronal eye sections taken from Lhx2-Cre and Lhx2-Cre:Dyrk1a +/f adult mice (6 – 8 weeks) across four designated dorsoventral quadrants (D1, D2, V3 and V4) spanning the entire retina relative to the optic nerve head. OPL ribbon synapse assemblies appear comparable in both groups (K – R, arrowheads) and were composed of dense photoreceptor terminals (vGlut1 + ) that overlapped with well organised bipolar cell dendritic processes (PKCα + ). Additionally, the linear alignment of all ribbon junctions <t>(Pikachurin</t> + ) indicated intact photoreceptor and bipolar cell synapses. All data represents the mean ± SEM. Statistical differences were calculated using a two-way ANOVA followed by a Sidak’s multiple comparison test. p-values are denoted as follows: **p≤ 0.01, ***p≤ 0.001 and ****p≤ 0.0001. Scale bar: (K – R) 5 µm. Abbreviations: D, dorsal; GCL, ganglion cell layer; INL, inner nuclear layer; IPL, inner plexiform layer; ONL, outer nuclear layer; OPL, outer plexiform layer; V, ventral.
    Pikachurin, supplied by Proteintech, used in various techniques. Bioz Stars score: 93/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/pikachurin/Pikachurin+Antibody/bio_rxiv__64898__2026__03__15__710015-170-56-58
    Average 93 stars, based on 1 article reviews
    pikachurin - by Bioz Stars, 2026-11
    93/100 stars
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    Proteintech s opsin
    (A) Schematic representation of electroretinogram (ERG) components. An initial negative deflection (a-wave) is observed upon photoreceptor stimulation (arrow) that is followed by a subsequent positive deflection (b-wave) that corresponds to bipolar cell activity. ERG waveform quantification involves measuring the amplitude (μV) and latency (ms) of the a- and b-waves to increasing stimulus intensities (cd.s/m 2 ) and thus provides an evaluation of retinal function. (B) Representative dark-adapted scotopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines represent individual mice. (C – D) Quantifcation of photoreceptor amplitude (C) and latency (D) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in repsonse to a series of increasing scotopic flash stimuli (log cd.s/m 2 ). No significant differences are observed between the groups. (E – F) Quantification of bipolar cell amplitude (E) and latency (F) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) towards increasing scotopic flash stimuli (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities (E) albeit with similar latency (F). (G) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single UV flash stimulus (log 1.00 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (H) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to an increasing photopic UV stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (I) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single green flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (J) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to a photopic green stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (K – R) Representative immunohistochemical staining of coronal eye sections taken from Lhx2-Cre and Lhx2-Cre:Dyrk1a +/f adult mice (6 – 8 weeks) across four designated dorsoventral quadrants (D1, D2, V3 and V4) spanning the entire retina relative to the optic nerve head. OPL ribbon synapse assemblies appear comparable in both groups (K – R, arrowheads) and were composed of dense photoreceptor terminals (vGlut1 + ) that overlapped with well organised bipolar cell dendritic processes (PKCα + ). Additionally, the linear alignment of all ribbon junctions <t>(Pikachurin</t> + ) indicated intact photoreceptor and bipolar cell synapses. All data represents the mean ± SEM. Statistical differences were calculated using a two-way ANOVA followed by a Sidak’s multiple comparison test. p-values are denoted as follows: **p≤ 0.01, ***p≤ 0.001 and ****p≤ 0.0001. Scale bar: (K – R) 5 µm. Abbreviations: D, dorsal; GCL, ganglion cell layer; INL, inner nuclear layer; IPL, inner plexiform layer; ONL, outer nuclear layer; OPL, outer plexiform layer; V, ventral.
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    A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in <t>EGFLAM</t> was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.
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    A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in <t>EGFLAM</t> was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.
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    A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in <t>EGFLAM</t> was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.
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    A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in <t>EGFLAM</t> was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.
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    A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in <t>EGFLAM</t> was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.
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    A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in <t>EGFLAM</t> was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.
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    Image Search Results


    (A) Schematic representation of electroretinogram (ERG) components. An initial negative deflection (a-wave) is observed upon photoreceptor stimulation (arrow) that is followed by a subsequent positive deflection (b-wave) that corresponds to bipolar cell activity. ERG waveform quantification involves measuring the amplitude (μV) and latency (ms) of the a- and b-waves to increasing stimulus intensities (cd.s/m 2 ) and thus provides an evaluation of retinal function. (B) Representative dark-adapted scotopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines represent individual mice. (C – D) Quantifcation of photoreceptor amplitude (C) and latency (D) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in repsonse to a series of increasing scotopic flash stimuli (log cd.s/m 2 ). No significant differences are observed between the groups. (E – F) Quantification of bipolar cell amplitude (E) and latency (F) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) towards increasing scotopic flash stimuli (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities (E) albeit with similar latency (F). (G) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single UV flash stimulus (log 1.00 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (H) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to an increasing photopic UV stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (I) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single green flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (J) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to a photopic green stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (K – R) Representative immunohistochemical staining of coronal eye sections taken from Lhx2-Cre and Lhx2-Cre:Dyrk1a +/f adult mice (6 – 8 weeks) across four designated dorsoventral quadrants (D1, D2, V3 and V4) spanning the entire retina relative to the optic nerve head. OPL ribbon synapse assemblies appear comparable in both groups (K – R, arrowheads) and were composed of dense photoreceptor terminals (vGlut1 + ) that overlapped with well organised bipolar cell dendritic processes (PKCα + ). Additionally, the linear alignment of all ribbon junctions (Pikachurin + ) indicated intact photoreceptor and bipolar cell synapses. All data represents the mean ± SEM. Statistical differences were calculated using a two-way ANOVA followed by a Sidak’s multiple comparison test. p-values are denoted as follows: **p≤ 0.01, ***p≤ 0.001 and ****p≤ 0.0001. Scale bar: (K – R) 5 µm. Abbreviations: D, dorsal; GCL, ganglion cell layer; INL, inner nuclear layer; IPL, inner plexiform layer; ONL, outer nuclear layer; OPL, outer plexiform layer; V, ventral.

    Journal: bioRxiv

    Article Title: Dyrk1a gene dosage controls bipolar cell development and retinal connectivity

    doi: 10.64898/2026.03.15.710015

    Figure Lengend Snippet: (A) Schematic representation of electroretinogram (ERG) components. An initial negative deflection (a-wave) is observed upon photoreceptor stimulation (arrow) that is followed by a subsequent positive deflection (b-wave) that corresponds to bipolar cell activity. ERG waveform quantification involves measuring the amplitude (μV) and latency (ms) of the a- and b-waves to increasing stimulus intensities (cd.s/m 2 ) and thus provides an evaluation of retinal function. (B) Representative dark-adapted scotopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines represent individual mice. (C – D) Quantifcation of photoreceptor amplitude (C) and latency (D) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in repsonse to a series of increasing scotopic flash stimuli (log cd.s/m 2 ). No significant differences are observed between the groups. (E – F) Quantification of bipolar cell amplitude (E) and latency (F) responses in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) towards increasing scotopic flash stimuli (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities (E) albeit with similar latency (F). (G) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single UV flash stimulus (log 1.00 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (H) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to an increasing photopic UV stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (I) Representative light-adapted photopic ERG waveforms recorded from Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animals (6 – 8 weeks) in response to a single green flash stimulus (log 1.48 cd.s/m 2 ). Comparable a-wave responses are observed for both groups while b-wave amplitudes are reduced in heterozygous animals. Thick lines represent genotype-mean responses while thin lines refer to individual mice. (J) Quantification of bipolar cell amplitude response in Lhx2-Cre ( n = 3) and Lhx2-Cre:Dyrk1a +/f ( n = 3) animal (6 – 8 weeks) in response to a photopic green stimulus intensity series (log cd.s/m 2 ). Heterozygous animals have a significant reduction in bipolar cell amplitude response at higher stimulus intensities. (K – R) Representative immunohistochemical staining of coronal eye sections taken from Lhx2-Cre and Lhx2-Cre:Dyrk1a +/f adult mice (6 – 8 weeks) across four designated dorsoventral quadrants (D1, D2, V3 and V4) spanning the entire retina relative to the optic nerve head. OPL ribbon synapse assemblies appear comparable in both groups (K – R, arrowheads) and were composed of dense photoreceptor terminals (vGlut1 + ) that overlapped with well organised bipolar cell dendritic processes (PKCα + ). Additionally, the linear alignment of all ribbon junctions (Pikachurin + ) indicated intact photoreceptor and bipolar cell synapses. All data represents the mean ± SEM. Statistical differences were calculated using a two-way ANOVA followed by a Sidak’s multiple comparison test. p-values are denoted as follows: **p≤ 0.01, ***p≤ 0.001 and ****p≤ 0.0001. Scale bar: (K – R) 5 µm. Abbreviations: D, dorsal; GCL, ganglion cell layer; INL, inner nuclear layer; IPL, inner plexiform layer; ONL, outer nuclear layer; OPL, outer plexiform layer; V, ventral.

    Article Snippet: The following primary antibodies and dilutions were used in this study: Calbindin (1:300, Sigma-Aldrich, #C9848); Calretinin (1:1000, Swant, #CG1); cleaved Caspase3 (Asp175) (1:500, Cell Signalling, #9661S); chAT (1:100, Millipore, #AB144P); Chx10 (1:50, SCBT, #SC365519); Dyrk1a (1:100, Novus, #NBP1-84032); Isl1/2 (recognises both Isl1 and Isl2 proteins) (1:500; DSHB, #39.4D5); M-opsin (1:500, Proteintech, #30975-1-AP); Pax6 (1:100, DSHB, #Pax6); Pikachurin (1:200, Proteintech, #14578-1-AP); Rhodopsin (1:500, Millipore, #MABN15); S-opsin (1:500, Proteintech, #24660-1-AP); TH (1:300, Millipore, #AB152); vGlut1 (1:2000, Millipore, #AB5905).

    Techniques: Activity Assay, Immunohistochemical staining, Staining, Comparison

    A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in EGFLAM was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.

    Journal: JAMA Ophthalmology

    Article Title: EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

    doi: 10.1001/jamaophthalmol.2025.4888

    Figure Lengend Snippet: A, Pedigrees of family 1 and family 2 analyzed in the present study. The arrowheads indicate the genetic screening performed on each individual. Homozygous deletion NM_152403.4 :c.1563_1566del, p.(Val522Glufs*18) in EGFLAM was identified in proband A ( CIC14385 ) and it cosegregated with the phenotype in the family. Similarly, in family 2, a homozygous NM_152403.4 :c.1795C>T, p.(Arg599*) pathogenic variant was found, and it cosagregated with the phenotype. B, Homozygosity mapping using whole-genome sequencing data identified 2 large homozygous regions in proband A, found in chromosome 2 (sizes 16.7 Mb and 24.5 Mb), and chromosome 5 (size 37.6 Mb). C, Schematic representation of the structure of EGFLAM (RefSeq NM_152403.4 ; harboring 22 exons), filled and unfilled boxes represent coding and noncoding exonic regions respectively. V1 and V2 depict the positions of pathogenic variants identified in the current study.

    Article Snippet: Additionally, immunohistochemistry localized EGFLAM in the outer plexiform layer (Human Protein Atlas; eFigure 4B in ).

    Techniques: Variant Assay, Sequencing

    A, Representation of the domain structure of EGFLAM . On the N-terminus, there are 2 fibronectin type III domains (FN3), and on the C-terminus, 3 EGF-like and 3 laminin G-like domains (EGF-LG). B, EGFLAM forms a transsynaptic connection by interacting with the dystroglycan-dystrophin complex on the photoreceptor side and GPR179 located on the ON-bipolar cell membrane. Molecules already known to be implicated in complete congenital stationary night blindness are represented in blue (NYX, TRPM1, GRM6, GPR179, and LRIT3).

    Journal: JAMA Ophthalmology

    Article Title: EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

    doi: 10.1001/jamaophthalmol.2025.4888

    Figure Lengend Snippet: A, Representation of the domain structure of EGFLAM . On the N-terminus, there are 2 fibronectin type III domains (FN3), and on the C-terminus, 3 EGF-like and 3 laminin G-like domains (EGF-LG). B, EGFLAM forms a transsynaptic connection by interacting with the dystroglycan-dystrophin complex on the photoreceptor side and GPR179 located on the ON-bipolar cell membrane. Molecules already known to be implicated in complete congenital stationary night blindness are represented in blue (NYX, TRPM1, GRM6, GPR179, and LRIT3).

    Article Snippet: Additionally, immunohistochemistry localized EGFLAM in the outer plexiform layer (Human Protein Atlas; eFigure 4B in ).

    Techniques: Membrane