Journal: Pediatric Nephrology (Berlin, Germany)

Article Title: Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

doi: 10.1007/s00467-022-05441-4

Figure Lengend Snippet: Pedigrees of the families. A : Family 1 . The two affected children (V:3 and V:6) are both homozygous for the DZIP1L sequence variant: c.216C > G; p.(Cys72Trp). a : Ultrasound scan of the left kidney in V:3 and b : Ultrasound scan of the left kidney in V:6. B . Family 2. The proband (III:3) is homozygous for the same sequence variant as identified in family 1 : c.216C > G; p.(Cys72Trp). C. Family 3 . The proband (VI:2) is homozygous for the DZIP1L sequence variant: c.193T > C; p.(Cys65Arg). Filled symbols indicate homozygous individuals, and half-filled symbols indicate heterozygous relatives. a : MR-scan of the kidneys from VI:2 showing enlarged kidneys with multiple cysts. b : Histological sections from the right kidney in HE staining (VI:2): Cortical and medulla areas with cysts. Subcapsular, a small area shows a more normal structure. For details, see text. Arrows indicate the probands

Article Snippet: The human DZIP1L (NM_173543) cDNA clone was purchased from Origene.

Techniques: Sequencing, Variant Assay, Staining

Journal: Pediatric Nephrology (Berlin, Germany)

Article Title: Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

doi: 10.1007/s00467-022-05441-4

Figure Lengend Snippet: A HEK293 cells transiently transfected with GFP-DZIP1L WT, Cys72Trp and mGFP were labeled with an anti-DZIP1L antibody. The anti-DZIP1L antibody only labeled cells that were transfected with the DZIP1L constructs. Scale bar: 20 µm. B Normal adult human kidney samples were stained with the same anti-DZIP1L antibody. Arrows indicate strong punctuate staining observed in select cells. Arrowheads indicate weaker and more diffuse staining, mainly found in collecting duct cells. C Double staining with anti-DZIP1L (red) and AQP2 (green) shows that the strong punctuate staining is not restricted to AQP2 expressing cells in the collecting system

Article Snippet: The human DZIP1L (NM_173543) cDNA clone was purchased from Origene.

Techniques: Transfection, Labeling, Construct, Staining, Double Staining, Expressing

Journal: Pediatric Nephrology (Berlin, Germany)

Article Title: Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

doi: 10.1007/s00467-022-05441-4

Figure Lengend Snippet: The six DZIP1L sequence variants reported to date. All detected in homozygous form

Article Snippet: The human DZIP1L (NM_173543) cDNA clone was purchased from Origene.

Techniques: Sequencing