(Q24307394)

Kelch like family member 3

inferred from title

1 reference

distal tubule morphogenesis

GOA release 2020-03-11

1 reference

pseudohypoaldosteronism type 2D

GOA release 2020-03-11

1 reference

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

inferred from title

corrigendum / erratum

0 references

author

Xavier Estivill i Pallejà

35

0 references

Philippe Froguel

36

0 references

Jean-Jacques Schott

38

0 references

Xavier Jeunemaitre

39

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Daniel Trujillano

3

0 references

Nabila Bouatia-Naji

5

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Patrick Bruneval

34

0 references

Julien Barc

2

0 references

Stephan Ossowski

31

0 references

Olena Pylypenko

6

Olena Pylypenko

0 references

Stéphanie Miserey-Lenkei

4

Stéphanie Miserey-Lenkei

0 references

Emmanuelle Vidal-Petiot

Emmanuelle Vidal-Petiot

11

0 references

Corinne Isnard Bagnis

Corinne Isnard Bagnis

20

0 references

Amélie Bonnefond

Amélie Bonnefond

8

0 references

Mark Caulfield

Mark Caulfield

32

0 references

Vincent Probst

Vincent Probst

26

0 references

Patrick Niaudet

25

Patrick Niaudet

0 references

author name string

Hélène Louis-Dit-Picard

1

0 references

Geneviève Beaurain

7

0 references

Olivier Sand

9

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Christophe Simian

10

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Christelle Soukaseum

12

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Chantal Mandet

13

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Françoise Broux

14

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Olivier Chabre

15

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Michel Delahousse

16

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Vincent Esnault

17

0 references

Béatrice Fiquet

18

0 references

Pascal Houillier

19

0 references

Jens Koenig

21

0 references

Martin Konrad

22

0 references

Paul Landais

23

0 references

Chebel Mourani

24

0 references

Christel Thauvin

27

0 references

Robert J Unwin

28

0 references

Steven D Soroka

29

0 references

Georg Ehret

30

0 references

Juliette Hadchouel

Human hypertension caused by mutations in WNK kinases

37

0 references

language of work or name

English

0 references

publication date

April 2012

0 references

published in

Nature Genetics

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volume

44

0 references

issue

4

0 references

page(s)

456-60, S1-3

0 references

cites work

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

20 April 2017

1 reference

Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene

20 April 2017

1 reference

Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation

20 April 2017

1 reference

The kelch repeat superfamily of proteins: propellers of cell function

20 April 2017

1 reference

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 April 2017

1 reference

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

20 April 2017

1 reference

A method and server for predicting damaging missense mutations

20 April 2017

1 reference

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

20 April 2017

1 reference

Activation of the thiazide-sensitive Na+-Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1

20 April 2017

1 reference

The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis

20 April 2017

1 reference

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 April 2017

1 reference

SIFT: Predicting amino acid changes that affect protein function

20 April 2017

1 reference

Evaluation of comparative protein modeling by MODELLER

20 April 2017

1 reference

Molecular mechanisms of human hypertension

20 April 2017

1 reference

Links between dietary salt intake, renal salt handling, blood pressure, and cardiovascular diseases

21 January 2018

1 reference

Familial hyperkalemic hypertension

21 January 2018

1 reference

Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain

21 January 2018

1 reference

Regulation of post-translational modifications of muskelin by protein kinase C.

21 January 2018

1 reference

Drosophila Kelch regulates actin organization via Src64-dependent tyrosine phosphorylation

21 January 2018

1 reference

Surface expression of sodium channels and transporters in rat kidney: effects of dietary sodium

21 January 2018

1 reference

Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

21 January 2018

1 reference

Nedd4-2 modulates renal Na+-Cl- cotransporter via the aldosterone-SGK1-Nedd4-2 pathway

21 January 2018

1 reference

RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter

21 January 2018

1 reference

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

21 January 2018

1 reference

Comparing single-nucleotide polymorphism marker-based and microsatellite marker-based linkage analyses

21 January 2018

1 reference

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

21 January 2018

1 reference

Automated inference of molecular mechanisms of disease from amino acid substitutions.

21 January 2018

1 reference

Atlas of gene expression in the mouse kidney: new features of glomerular parietal cells

21 January 2018

1 reference

Rab6A and Rab6A' GTPases play non-overlapping roles in membrane trafficking.

21 January 2018

1 reference

Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule

21 January 2018

1 reference

12 December 2020

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

Short report: HYPERGENE: a clinical and genetic database for genetic analysis of human hypertension.

1 reference

12 December 2020

Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model

1 reference

12 December 2020

Stimulation of calcium transport by amiloride in mouse distal convoluted tubule cells

1 reference

12 December 2020

Microtubule-dependent vesicle transport: modulation of channel and transporter activity in liver and kidney

1 reference

12 December 2020