Mutations in multiple PKD genes may explain early and severe polycystic kidney disease (Q34228262)

31 July 2017

title

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease (English)

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31 July 2017

Jose Carlos Ferreira

13

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author name string

Carsten Bergmann

1

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Jennifer von Bothmer

2

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Nadina Ortiz Brüchle

3

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Andreas Venghaus

4

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Valeska Frank

5

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Henry Fehrenbach

6

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Tobias Hampel

7

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Lars Pape

8

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Annegret Buske

9

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Jon Jonsson

10

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Nanette Sarioglu

11

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Antónia Santos

12

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Jan U Becker

14

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Reinhold Cremer

15

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Julia Hoefele

16

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Marcus R Benz

17

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Lutz T Weber

18

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Reinhard Buettner

19

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Klaus Zerres

20

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31 July 2017

publication date

27 October 2011

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Journal of the American Society of Nephrology

31 July 2017

published in

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31 July 2017

volume

22

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31 July 2017

issue

11

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31 July 2017

page(s)

2047-2056

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Disruption of a ciliary B9 protein complex causes Meckel syndrome

31 July 2017

cites work

1 reference

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Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

5 July 2018

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Functional modules, mutational load and human genetic disease

5 July 2018

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Molecular diagnostics for autosomal dominant polycystic kidney disease

5 July 2018

1 reference

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Polycystic kidney disease

5 July 2018

1 reference

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Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function

5 July 2018

1 reference

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Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.

5 July 2018

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A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

5 July 2018

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When cilia go bad: cilia defects and ciliopathies

5 July 2018

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Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

5 July 2018

1 reference

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Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia.

5 July 2018

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Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

5 July 2018

1 reference

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Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

5 July 2018

1 reference

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Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

5 July 2018

1 reference

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A transcriptional network in polycystic kidney disease

5 July 2018

1 reference

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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

5 July 2018

1 reference

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Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

5 July 2018

1 reference

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Polycystic kidney disease--a truly pediatric problem

5 July 2018

1 reference

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

5 July 2018

1 reference

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Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation

28 October 2018

1 reference

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Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease

28 October 2018

1 reference

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Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

28 October 2018

1 reference

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Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

28 October 2018

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease

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12 December 2020

Early manifestations of polycystic kidney disease

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12 December 2020

Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion

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12 December 2020

Polycystic kidney disease

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12 December 2020

Identifiers

DOI

10.1681/ASN.2010101080

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31 July 2017

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31 July 2017

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