antiil11ra antibody Search Results


86
R&D Systems antiil11ra antibody
Antiil11ra Antibody, supplied by R&D Systems, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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99
Abcam anti il11ra
Fertility reported with genetic loss-of-function in IL11 signaling in mice and humans.
Anti Il11ra, supplied by Abcam, used in various techniques. Bioz Stars score: 99/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Average 99 stars, based on 1 article reviews
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90
ABclonal Biotechnology anti-il11ra antibody
Differential analyses and survival validation of six interleukins/interleukin receptors via transcriptomics. A – D Differential expression of the six interleukins/interleukin receptors in the ( A ) TCGA-LUAD cohort. B GSE31210 cohort. C GSE116959 cohort. D GSE102511 cohort. The red column indicates the expression level of tumor tissue, and the blue column indicates the expression level of normal tissue. The p value of the difference between tumor and normal tissue expression was above the column. E Survival differences in the TCGA-LUAD cohort based on <t>IL11RA</t> expression. F Differences in survival in the GSE31210 cohort stratified according to IL11RA expression. G Survival differences in the GSE72094 cohort based on IL11RA expression. H Survival differences in the TCGA-LUAD cohort based on IL18R1 expression. I Differences in survival in the GSE31210 cohort stratified according to IL18R1 expression. J Differences in survival in the GSE72094 cohort stratified according to IL18R1 expression. K Survival differences in the TCGA-LUAD cohort stratified according to IL16 expression. L Differences in survival in the GSE31210 cohort stratified according to IL16 expression. M Differences in survival in the GSE72094 cohort stratified according to IL16 expression
Anti Il11ra Antibody, supplied by ABclonal Biotechnology, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/result/anti-il11ra antibody/product/ABclonal Biotechnology
Average 90 stars, based on 1 article reviews
anti-il11ra antibody - by Bioz Stars, 2026-03
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Santa Cruz Biotechnology antibody raised against il11ra
Craniosynostosis phenotypes linked to <t>IL11RA</t> mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.
Antibody Raised Against Il11ra, supplied by Santa Cruz Biotechnology, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/result/antibody raised against il11ra/product/Santa Cruz Biotechnology
Average 90 stars, based on 1 article reviews
antibody raised against il11ra - by Bioz Stars, 2026-03
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R&D Systems anti il11ra antibody
Craniosynostosis phenotypes linked to <t>IL11RA</t> mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.
Anti Il11ra Antibody, supplied by R&D Systems, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/result/anti il11ra antibody/product/R&D Systems
Average 90 stars, based on 1 article reviews
anti il11ra antibody - by Bioz Stars, 2026-03
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Danaher Inc anti il11ra
Craniosynostosis phenotypes linked to <t>IL11RA</t> mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.
Anti Il11ra, supplied by Danaher Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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90
Boehringer Ingelheim anti-il11 therapy
Craniosynostosis phenotypes linked to <t>IL11RA</t> mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.
Anti Il11 Therapy, supplied by Boehringer Ingelheim, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Danaher Inc neutralizing anti-il11ra x209
Craniosynostosis phenotypes linked to <t>IL11RA</t> mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.
Neutralizing Anti Il11ra X209, supplied by Danaher Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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86
Danaher Inc 3209 anti il11ra
Craniosynostosis phenotypes linked to <t>IL11RA</t> mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.
3209 Anti Il11ra, supplied by Danaher Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/result/3209 anti il11ra/product/Danaher Inc
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3209 anti il11ra - by Bioz Stars, 2026-03
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93
Proteintech anti il11ra
Craniosynostosis phenotypes linked to <t>IL11RA</t> mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.
Anti Il11ra, 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/result/anti il11ra/product/Proteintech
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N/A
Interleukin 11 is a stromal cell derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors This gene encodes the IL 11
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N/A
Anti-IL11RA Antibody (X209) is a human-derived IgG4, κ type antibody inhibitor, targeting to human IL-11RA. Recommend Isotype Controls: Human IgG4 kappa, Isotype Control (HY-P99003).
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Image Search Results


Fertility reported with genetic loss-of-function in IL11 signaling in mice and humans.

Journal: Scientific Reports

Article Title: Similarities and differences between IL11 and IL11RA1 knockout mice for lung fibro-inflammation, fertility and craniosynostosis

doi: 10.1038/s41598-021-93623-9

Figure Lengend Snippet: Fertility reported with genetic loss-of-function in IL11 signaling in mice and humans.

Article Snippet: Antibodies: anti-smooth muscle actin (ab7817, abcam), anti-Collagen I (ab34710, abcam), anti-IL11RA (ab125015, abcam), goat anti-mouse Alexa Flour 488-conjugated secondary antibody (ab150113, abcam), goat anti-rabbit Alexa Flour 488-conjugated secondary antibody (ab150077, abcam), DAPI (D1306, Thermo Fisher Scientific).

Techniques: Mutagenesis, CRISPR

Differential analyses and survival validation of six interleukins/interleukin receptors via transcriptomics. A – D Differential expression of the six interleukins/interleukin receptors in the ( A ) TCGA-LUAD cohort. B GSE31210 cohort. C GSE116959 cohort. D GSE102511 cohort. The red column indicates the expression level of tumor tissue, and the blue column indicates the expression level of normal tissue. The p value of the difference between tumor and normal tissue expression was above the column. E Survival differences in the TCGA-LUAD cohort based on IL11RA expression. F Differences in survival in the GSE31210 cohort stratified according to IL11RA expression. G Survival differences in the GSE72094 cohort based on IL11RA expression. H Survival differences in the TCGA-LUAD cohort based on IL18R1 expression. I Differences in survival in the GSE31210 cohort stratified according to IL18R1 expression. J Differences in survival in the GSE72094 cohort stratified according to IL18R1 expression. K Survival differences in the TCGA-LUAD cohort stratified according to IL16 expression. L Differences in survival in the GSE31210 cohort stratified according to IL16 expression. M Differences in survival in the GSE72094 cohort stratified according to IL16 expression

Journal: Discover Oncology

Article Title: Exploring the relationship between the interleukin family and lung adenocarcinoma through Mendelian randomization and RNA sequencing analysis

doi: 10.1007/s12672-024-01325-1

Figure Lengend Snippet: Differential analyses and survival validation of six interleukins/interleukin receptors via transcriptomics. A – D Differential expression of the six interleukins/interleukin receptors in the ( A ) TCGA-LUAD cohort. B GSE31210 cohort. C GSE116959 cohort. D GSE102511 cohort. The red column indicates the expression level of tumor tissue, and the blue column indicates the expression level of normal tissue. The p value of the difference between tumor and normal tissue expression was above the column. E Survival differences in the TCGA-LUAD cohort based on IL11RA expression. F Differences in survival in the GSE31210 cohort stratified according to IL11RA expression. G Survival differences in the GSE72094 cohort based on IL11RA expression. H Survival differences in the TCGA-LUAD cohort based on IL18R1 expression. I Differences in survival in the GSE31210 cohort stratified according to IL18R1 expression. J Differences in survival in the GSE72094 cohort stratified according to IL18R1 expression. K Survival differences in the TCGA-LUAD cohort stratified according to IL16 expression. L Differences in survival in the GSE31210 cohort stratified according to IL16 expression. M Differences in survival in the GSE72094 cohort stratified according to IL16 expression

Article Snippet: The anti-IL11RA antibody (dilution 1:1000) was obtained from ABclonal (catalog No. A9365).

Techniques: Biomarker Discovery, Quantitative Proteomics, Expressing

Differential analyses and survival analyses of driver gene negative (DG-) patients. A Strip diagram and bar diagram of semi-quantitative results of the western blot illustrating the differences in the protein expression of IL11RA in HBEC cells and four different lung adenocarcinoma cell lines (H1299, H441, A549, PC9). B Differential expression of IL11RA in the GSE31210 DG- cohort. C Differential expression of IL11RA in the FAH cohort. D Survival differences in the GSE31210 DG- cohort based on IL11RA expression. E Differences in survival in the GSE72094 DG- cohort stratified according to IL11RA expression. F Differences in survival in the FAH cohort stratified by IL11RA expression

Journal: Discover Oncology

Article Title: Exploring the relationship between the interleukin family and lung adenocarcinoma through Mendelian randomization and RNA sequencing analysis

doi: 10.1007/s12672-024-01325-1

Figure Lengend Snippet: Differential analyses and survival analyses of driver gene negative (DG-) patients. A Strip diagram and bar diagram of semi-quantitative results of the western blot illustrating the differences in the protein expression of IL11RA in HBEC cells and four different lung adenocarcinoma cell lines (H1299, H441, A549, PC9). B Differential expression of IL11RA in the GSE31210 DG- cohort. C Differential expression of IL11RA in the FAH cohort. D Survival differences in the GSE31210 DG- cohort based on IL11RA expression. E Differences in survival in the GSE72094 DG- cohort stratified according to IL11RA expression. F Differences in survival in the FAH cohort stratified by IL11RA expression

Article Snippet: The anti-IL11RA antibody (dilution 1:1000) was obtained from ABclonal (catalog No. A9365).

Techniques: Stripping Membranes, Western Blot, Expressing, Quantitative Proteomics

Differential expression of IL11RA among patients at different stages. A – D Differential expression of IL11RA among patients with different clinical stages/T stages/N stages/M stages in the TCGA-LUAD cohort. E – H Differential expression of IL11RA among patients with different clinical stages/T stages/N stages/M stages in the FAH cohort

Journal: Discover Oncology

Article Title: Exploring the relationship between the interleukin family and lung adenocarcinoma through Mendelian randomization and RNA sequencing analysis

doi: 10.1007/s12672-024-01325-1

Figure Lengend Snippet: Differential expression of IL11RA among patients at different stages. A – D Differential expression of IL11RA among patients with different clinical stages/T stages/N stages/M stages in the TCGA-LUAD cohort. E – H Differential expression of IL11RA among patients with different clinical stages/T stages/N stages/M stages in the FAH cohort

Article Snippet: The anti-IL11RA antibody (dilution 1:1000) was obtained from ABclonal (catalog No. A9365).

Techniques: Quantitative Proteomics

Cell infiltration analysis results. A The correlation between IL11RA expression and the number of circulating tumor cells in the FAH cohort. B Correlations between IL11RA expression and stromal score, immune score, and ESTIMATE score in the TCGA-LUAD/GSE31210/GSE72094/FAH cohorts. C The correlation between IL11RA expression and 22 immune cell infiltration scores in the four cohorts. D The correlation between IL11RA expression and 64 immune cell and stromal cell infiltration scores in the four cohorts

Journal: Discover Oncology

Article Title: Exploring the relationship between the interleukin family and lung adenocarcinoma through Mendelian randomization and RNA sequencing analysis

doi: 10.1007/s12672-024-01325-1

Figure Lengend Snippet: Cell infiltration analysis results. A The correlation between IL11RA expression and the number of circulating tumor cells in the FAH cohort. B Correlations between IL11RA expression and stromal score, immune score, and ESTIMATE score in the TCGA-LUAD/GSE31210/GSE72094/FAH cohorts. C The correlation between IL11RA expression and 22 immune cell infiltration scores in the four cohorts. D The correlation between IL11RA expression and 64 immune cell and stromal cell infiltration scores in the four cohorts

Article Snippet: The anti-IL11RA antibody (dilution 1:1000) was obtained from ABclonal (catalog No. A9365).

Techniques: Expressing

IL11RA co-expression gene and enrichment analyses. A The intersection of genes positively correlated with IL11RA expression in the four cohorts. B GO enrichment results for genes positively correlated with IL11RA expression. C KEGG enrichment results for genes positively correlated with IL11RA expression. D The intersection of genes negatively correlated with IL11RA expression in all four cohorts. E GO enrichment results for genes negatively correlated with IL11RA expression. F KEGG enrichment results for genes negatively correlated with IL11RA expression

Journal: Discover Oncology

Article Title: Exploring the relationship between the interleukin family and lung adenocarcinoma through Mendelian randomization and RNA sequencing analysis

doi: 10.1007/s12672-024-01325-1

Figure Lengend Snippet: IL11RA co-expression gene and enrichment analyses. A The intersection of genes positively correlated with IL11RA expression in the four cohorts. B GO enrichment results for genes positively correlated with IL11RA expression. C KEGG enrichment results for genes positively correlated with IL11RA expression. D The intersection of genes negatively correlated with IL11RA expression in all four cohorts. E GO enrichment results for genes negatively correlated with IL11RA expression. F KEGG enrichment results for genes negatively correlated with IL11RA expression

Article Snippet: The anti-IL11RA antibody (dilution 1:1000) was obtained from ABclonal (catalog No. A9365).

Techniques: Expressing

Results of single-cell RNA sequencing data clustering. A Uniform manifold approximation and projection ( UMAP) plot of a total of 154,476 cells colored according to different clusters. B UMAP plot colored according to tissue type. C The expression of IL11RA in different tissues. D UMAP plot colored according to different cell types. E The expression of IL11RA in different cell types. F UMAP plot of 5348 fibroblasts classified by tissue type. G IL11RA + fibroblasts in tumor and normal tissues

Journal: Discover Oncology

Article Title: Exploring the relationship between the interleukin family and lung adenocarcinoma through Mendelian randomization and RNA sequencing analysis

doi: 10.1007/s12672-024-01325-1

Figure Lengend Snippet: Results of single-cell RNA sequencing data clustering. A Uniform manifold approximation and projection ( UMAP) plot of a total of 154,476 cells colored according to different clusters. B UMAP plot colored according to tissue type. C The expression of IL11RA in different tissues. D UMAP plot colored according to different cell types. E The expression of IL11RA in different cell types. F UMAP plot of 5348 fibroblasts classified by tissue type. G IL11RA + fibroblasts in tumor and normal tissues

Article Snippet: The anti-IL11RA antibody (dilution 1:1000) was obtained from ABclonal (catalog No. A9365).

Techniques: RNA Sequencing, Expressing

Trajectory analyses of fibroblasts. A The trajectory analyses categorize fibroblasts into three states. B The evolutionary process of fibroblasts in different states. C IL11RA + and IL11RA- fibroblasts in each state. D The differential expression of IL11RA in fibroblasts across different states. E Results of GO enrichment analyses of genes differentially expressed between IL11RA + and IL11RA- fibroblasts. F KEGG enrichment analysis results for genes differentially expressed between IL11RA + and IL11RA- fibroblasts

Journal: Discover Oncology

Article Title: Exploring the relationship between the interleukin family and lung adenocarcinoma through Mendelian randomization and RNA sequencing analysis

doi: 10.1007/s12672-024-01325-1

Figure Lengend Snippet: Trajectory analyses of fibroblasts. A The trajectory analyses categorize fibroblasts into three states. B The evolutionary process of fibroblasts in different states. C IL11RA + and IL11RA- fibroblasts in each state. D The differential expression of IL11RA in fibroblasts across different states. E Results of GO enrichment analyses of genes differentially expressed between IL11RA + and IL11RA- fibroblasts. F KEGG enrichment analysis results for genes differentially expressed between IL11RA + and IL11RA- fibroblasts

Article Snippet: The anti-IL11RA antibody (dilution 1:1000) was obtained from ABclonal (catalog No. A9365).

Techniques: Quantitative Proteomics

Craniosynostosis phenotypes linked to IL11RA mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

doi: 10.1002/mgg3.28

Figure Lengend Snippet: Craniosynostosis phenotypes linked to IL11RA mutations. (A-H) Facial views of representative cases of the Turkish CRS1 family with Crouzon-like craniosynostosis. (A and B) Subject IV:5. Facial appearance at 17 years. (C and D) Subject IV:11 at 16 years old. (E and F) Affected individual of the CRS3 family carrying the p.Arg292* mutation at approximately 9 years of age. All three subjects were treated by craniotomy at an early age. (G and H) Affected individual of the CRS4 family with p.Tyr232* mutation at 12 years of age. (I-K) Skull X-ray with increased digital markings and maxillary hypoplasia present in CRS3.

Article Snippet: For immunofluorescence analysis, 12 μm cryosections were blocked in 1× PBS containing 0.5% TritonX and 10% Fetal Calf Serum and probed with an antibody raised against Il11ra (1:20, (N-20) sc-993, Santa Cruz).

Techniques: Mutagenesis

Clinical findings in patients carrying  IL11RA  mutations

Journal: Molecular Genetics & Genomic Medicine

Article Title: Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

doi: 10.1002/mgg3.28

Figure Lengend Snippet: Clinical findings in patients carrying IL11RA mutations

Article Snippet: For immunofluorescence analysis, 12 μm cryosections were blocked in 1× PBS containing 0.5% TritonX and 10% Fetal Calf Serum and probed with an antibody raised against Il11ra (1:20, (N-20) sc-993, Santa Cruz).

Techniques: Mutagenesis

Identification of a donor splice-site mutation in IL11RA . (A) Pedigree of the large Turkish kindred with Crouzon-like craniosynostosis. Capital letters beneath each symbol describe the genotypes of family members for the two variations identified by targeted next-generation sequencing in IL11RA and PIGO . Amino acid and nucleotide substitutions are shown in red. (B) Sequence chromatograms showing the identified c.479+6T>G mutation in IL11RA in the affected individual IV:1, heterozygous carrier III:1, and a wild-type (wt) control. The arrow indicates the nucleotide substitution on the sixth position behind the exon intron boundary. (C) mRNA analysis of IL11RA transcripts in an affected individual carrying the c.479+6T>G mutation in the homozygous state. RNA was reverse transcribed and after PCR amplification separated on a 1% agarose gel resulting in two visible bands containing three fragments (patient lane). The upper band (∼600 bp) contained a WT fragment and an aberrant transcript which includes additional 5 bp generated by the use of an alternative donor site introduced by the mutation. The lower band (∼450 bp) represents an aberrant transcript generated by skipping of exon 4. Frequencies of transcripts are indicated at the right and represent the analysis of 21 clones after subcloning and sequencing of fragments.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

doi: 10.1002/mgg3.28

Figure Lengend Snippet: Identification of a donor splice-site mutation in IL11RA . (A) Pedigree of the large Turkish kindred with Crouzon-like craniosynostosis. Capital letters beneath each symbol describe the genotypes of family members for the two variations identified by targeted next-generation sequencing in IL11RA and PIGO . Amino acid and nucleotide substitutions are shown in red. (B) Sequence chromatograms showing the identified c.479+6T>G mutation in IL11RA in the affected individual IV:1, heterozygous carrier III:1, and a wild-type (wt) control. The arrow indicates the nucleotide substitution on the sixth position behind the exon intron boundary. (C) mRNA analysis of IL11RA transcripts in an affected individual carrying the c.479+6T>G mutation in the homozygous state. RNA was reverse transcribed and after PCR amplification separated on a 1% agarose gel resulting in two visible bands containing three fragments (patient lane). The upper band (∼600 bp) contained a WT fragment and an aberrant transcript which includes additional 5 bp generated by the use of an alternative donor site introduced by the mutation. The lower band (∼450 bp) represents an aberrant transcript generated by skipping of exon 4. Frequencies of transcripts are indicated at the right and represent the analysis of 21 clones after subcloning and sequencing of fragments.

Article Snippet: For immunofluorescence analysis, 12 μm cryosections were blocked in 1× PBS containing 0.5% TritonX and 10% Fetal Calf Serum and probed with an antibody raised against Il11ra (1:20, (N-20) sc-993, Santa Cruz).

Techniques: Mutagenesis, Next-Generation Sequencing, Sequencing, Amplification, Agarose Gel Electrophoresis, Generated, Clone Assay, Subcloning

Additional IL11RA mutations. (A) Pedigrees and sequence chromatograms of additional IL11RA mutations. Capital letters above the pedigrees describe the amino acid changes found in affected family members. Substitutions are marked in red. (B) Schematic representation of the genetic and molecular structure of IL11RA and positions of identified mutations within IL11RA domains. (C) Predicted protein structure of the IL11-IL11RA receptor complex. Amino acids at the positions of the identified missense (Pro200, Arg237) and nonsense mutations (Tyr232, Arg292) are shown.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

doi: 10.1002/mgg3.28

Figure Lengend Snippet: Additional IL11RA mutations. (A) Pedigrees and sequence chromatograms of additional IL11RA mutations. Capital letters above the pedigrees describe the amino acid changes found in affected family members. Substitutions are marked in red. (B) Schematic representation of the genetic and molecular structure of IL11RA and positions of identified mutations within IL11RA domains. (C) Predicted protein structure of the IL11-IL11RA receptor complex. Amino acids at the positions of the identified missense (Pro200, Arg237) and nonsense mutations (Tyr232, Arg292) are shown.

Article Snippet: For immunofluorescence analysis, 12 μm cryosections were blocked in 1× PBS containing 0.5% TritonX and 10% Fetal Calf Serum and probed with an antibody raised against Il11ra (1:20, (N-20) sc-993, Santa Cruz).

Techniques: Sequencing

Impaired IL11RA signaling causes craniosynostosis. (A) Simplified schematic view of the signaling pathway involving IL11RA. Binding of IL11 to IL11RA is thought to trigger homodimerization of the GP130 receptor and transphosphorylation of tyrosines of GP130 through the associated JAKs. Subsequently, STAT3 is activated by tyrosine phosphorylation. (B) Western blot analysis of IL11-induced phosphorylation of STAT3 in transiently transfected HEK293T and COS7 cells. Cells were activated with IL11 (+) or left unactivated (-). Transfection efficiency and equal protein amounts were confirmed by reprobing of the membrane with antibodies against Flag and ß-Actin. C-terminal fused Flag-tag was neither detectable in proteins with premature stop signals nor in untransfected control cells.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

doi: 10.1002/mgg3.28

Figure Lengend Snippet: Impaired IL11RA signaling causes craniosynostosis. (A) Simplified schematic view of the signaling pathway involving IL11RA. Binding of IL11 to IL11RA is thought to trigger homodimerization of the GP130 receptor and transphosphorylation of tyrosines of GP130 through the associated JAKs. Subsequently, STAT3 is activated by tyrosine phosphorylation. (B) Western blot analysis of IL11-induced phosphorylation of STAT3 in transiently transfected HEK293T and COS7 cells. Cells were activated with IL11 (+) or left unactivated (-). Transfection efficiency and equal protein amounts were confirmed by reprobing of the membrane with antibodies against Flag and ß-Actin. C-terminal fused Flag-tag was neither detectable in proteins with premature stop signals nor in untransfected control cells.

Article Snippet: For immunofluorescence analysis, 12 μm cryosections were blocked in 1× PBS containing 0.5% TritonX and 10% Fetal Calf Serum and probed with an antibody raised against Il11ra (1:20, (N-20) sc-993, Santa Cruz).

Techniques: Binding Assay, Western Blot, Transfection, FLAG-tag

Il11ra expression in mouse and zebrafish sutures. (A-B) Sagittal cryosections of P0 mouse heads; scale bars: 100 μm. (A) Upper row, histological staining with hematoxylin and eosin shows the coronal suture (arrow heads) and surrounding tissue. Lower row, immunofluorescence staining displays Il11ra localization (red) in the granular layer of the skin (arrow) and around the coronal suture tips (asterisks). Nuclei were stained with DAPI (blue). White lines mark cranial bone plates. (B) Immunofluorescence staining of Il11ra (red) shows protein in the lambdoidal suture (asterisks). Nuclei were stained with DAPI (blue). White lines mark cranial bone plates. (C) In situ hybridization of il11ra mRNA on sagittal paraffin sections of adult zebrafish heads. il11ra is expressed within the coronal sutures (left) and anteriorly in craniofacial bone fusions (right, arrows) within areas of bone contact; scale bars: 100 μm.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

doi: 10.1002/mgg3.28

Figure Lengend Snippet: Il11ra expression in mouse and zebrafish sutures. (A-B) Sagittal cryosections of P0 mouse heads; scale bars: 100 μm. (A) Upper row, histological staining with hematoxylin and eosin shows the coronal suture (arrow heads) and surrounding tissue. Lower row, immunofluorescence staining displays Il11ra localization (red) in the granular layer of the skin (arrow) and around the coronal suture tips (asterisks). Nuclei were stained with DAPI (blue). White lines mark cranial bone plates. (B) Immunofluorescence staining of Il11ra (red) shows protein in the lambdoidal suture (asterisks). Nuclei were stained with DAPI (blue). White lines mark cranial bone plates. (C) In situ hybridization of il11ra mRNA on sagittal paraffin sections of adult zebrafish heads. il11ra is expressed within the coronal sutures (left) and anteriorly in craniofacial bone fusions (right, arrows) within areas of bone contact; scale bars: 100 μm.

Article Snippet: For immunofluorescence analysis, 12 μm cryosections were blocked in 1× PBS containing 0.5% TritonX and 10% Fetal Calf Serum and probed with an antibody raised against Il11ra (1:20, (N-20) sc-993, Santa Cruz).

Techniques: Expressing, Staining, Immunofluorescence, In Situ Hybridization