Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. (Q38439682)

3 September 2017

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title

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. (English)

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3 September 2017

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31

Olivier Devuyst

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Rosa Vargas-Poussou

68

Rosa Vargas-Poussou

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Marie-Alice Macher

49

Marie-Alice Macher

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Véronique Baudouin

13

Anne-Laure Sellier-Leclerc

Véronique Baudouin

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61

Anne-Laure Sellier-Leclerc

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Lamisse Mansour-Hendili

1

Lamisse Mansour-Hendili

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Xavier Jeunemaitre

67

Xavier Jeunemaître

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Georges Deschênes

29

Brigitte Gilbert-Dussardier

Georges Deschenes

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38

Brigitte Gilbert-Dussardier

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3 September 2017

Stéphane Lourdel

5

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Ariela Vergara-Jaque

Ariela Vergara-Jaque

8

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Wendy González

Wendy González

7

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Anne Blanchard

Anne Blanchard

2

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Justine Bacchetta

Justine Bacchetta

12

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Stephane Burtey

Stéphane Burtey

18

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Georges Deschenes

Georges Deschenes

29

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Patrick Niaudet

52

Patrick Niaudet

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3 September 2017

64

Tim Ulinski

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3 September 2017

Lamisse Mansour-Hendili

1

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3 September 2017

Nelly Le Pottier

3

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3 September 2017

Isabelle Roncelin

4

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3 September 2017

Cyrielle Treard

6

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3 September 2017

Gilles Morin

9

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3 September 2017

Estelle Colin

10

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3 September 2017

Muriel Holder-Espinasse

11

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3 September 2017

Véronique Baudouin

13

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3 September 2017

Stéphane Benoit

14

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3 September 2017

Etienne Bérard

15

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3 September 2017

Guylhène Bourdat-Michel

16

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3 September 2017

Karim Bouchireb

17

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3 September 2017

Mathilde Cailliez

19

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3 September 2017

Gérard Cardon

20

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3 September 2017

Claire Cartery

21

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3 September 2017

Gerard Champion

22

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3 September 2017

Dominique Chauveau

23

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3 September 2017

Pierre Cochat

24

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3 September 2017

Karin Dahan

25

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3 September 2017

Renaud De la Faille

26

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3 September 2017

François-Guillaume Debray

27

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3 September 2017

Laurenne Dehoux

28

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3 September 2017

Estelle Desport

30

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3 September 2017

Stella Dieguez

32

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3 September 2017

Francesco Emma

33

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3 September 2017

Michel Fischbach

34

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Denis Fouque

35

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3 September 2017

Jacques Fourcade

36

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3 September 2017

Hélène François

37

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3 September 2017

Thierry Hannedouche

39

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3 September 2017

Pascal Houillier

40

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3 September 2017

Hassan Izzedine

41

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3 September 2017

Marco Janner

42

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3 September 2017

Alexandre Karras

43

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3 September 2017

Bertrand Knebelmann

44

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3 September 2017

Marie-Pierre Lavocat

45

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3 September 2017

Sandrine Lemoine

46

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3 September 2017

Valérie Leroy

47

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3 September 2017

Chantal Loirat

48

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3 September 2017

Marie-Alice Macher

49

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3 September 2017

Dominique Martin-Coignard

50

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3 September 2017

Denis Morin

51

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3 September 2017

Hubert Nivet

53

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3 September 2017

François Nobili

54

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3 September 2017

Robert Novo

55

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3 September 2017

Laurence Faivre

56

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3 September 2017

Claire Rigothier

57

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3 September 2017

Gwenaëlle Roussey-Kesler

58

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3 September 2017

Remi Salomon

59

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3 September 2017

Andreas Schleich

60

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3 September 2017

Anne-Laure Sellier-Leclerc

61

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3 September 2017

Kenza Soulami

62

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3 September 2017

Aurélien Tiple

63

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3 September 2017

Philippe Vanhille

65

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3 September 2017

Nicole Van Regemorter

66

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3 September 2017

Xavier Jeunemaître

67

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3 September 2017

Rosa Vargas-Poussou

68

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3 September 2017

11 June 2015

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3 September 2017

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3 September 2017

36

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3 September 2017

743-752

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3 September 2017

8

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ICM?A new method for protein modeling and design: Applications to docking and structure prediction from the distorted native conformation

3 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Separate ion pathways in a Cl-/H+ exchanger

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Family history may be misleading in the diagnosis of Dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Dent-2 disease: a mild variant of Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Phenotype and genotype of Dent's disease in three Korean boys

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Gating the selectivity filter in ClC chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

A patient with nephrotic-range proteinuria and focal global glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Evidence for genetic heterogeneity in Dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Dent Disease with mutations in OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Regulation of albumin endocytosis by PSD95/Dlg/ZO-1 (PDZ) scaffolds. Interaction of Na+-H+ exchange regulatory factor-2 with ClC-5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

VMD: visual molecular dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Phenotype and genotype of Dent's disease in three Chinese boys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Proteinuria in a boy with infectious mononucleosis, C1q nephropathy, and Dent's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

A common molecular basis for three inherited kidney stone diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Extending the treatment of backbone energetics in protein force fields: limitations of gas-phase quantum mechanics in reproducing protein conformational distributions in molecular dynamics simulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Scalable molecular dynamics with NAMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Vitamin A responsive night blindness in Dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Growth hormone improves growth rate and preserves renal function in Dent disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Determinants of anion-proton coupling in mammalian endosomal CLC proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

Expanding the phenotype of proteinuria in Dent disease. A case series

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

Hypercalciuria in patients with CLCN5 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

A boy with Japanese Dent's disease exhibiting abnormal calcium metabolism and osseous disorder of the spine: defective megalin expression at the brushborder of renal proximal tubules

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22804

7 January 2021

Identifiers

DOI

10.1002/HUMU.22804

1 reference

3 September 2017

1 reference