(Q50353233)

6 March 2018

title

COL4A3 mutations cause focal segmental glomerulosclerosis. (English)

1 reference

6 March 2018

focal segmental glomerulosclerosis

main subject

1 reference

Guoyu Meng

11

0 references

Krzysztof Kiryluk

13

object named as

Krzysztof Kiryluk

1 reference

6 March 2018

Weiming Wang

4

object named as

Weiming Wang

1 reference

6 March 2018

author name string

Jingyuan Xie

1

1 reference

6 March 2018

Xiaoxi Wu

2

1 reference

6 March 2018

Hong Ren

3

1 reference

6 March 2018

Zhaohui Wang

5

1 reference

6 March 2018

Xiaoxia Pan

6

1 reference

6 March 2018

Xu Hao

7

1 reference

6 March 2018

Jun Tong

8

1 reference

6 March 2018

Jun Ma

9

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6 March 2018

Zhibin Ye

10

1 reference

6 March 2018

Yufei Zhu

12

1 reference

6 March 2018

Xiangyin Kong

14

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6 March 2018

Landian Hu

15

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6 March 2018

Nan Chen

16

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6 March 2018

publication date

1 December 2014

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6 March 2018

Journal of Molecular Cell Biology

published in

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6 March 2018

volume

6

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6 March 2018

issue

6

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6 March 2018

page(s)

498-505

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6 March 2018

Cellular origins of type IV collagen networks in developing glomeruli.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Evidence for activation of the unfolded protein response in collagen IV nephropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Targeted induction of endoplasmic reticulum stress induces cartilage pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

21 January 2018

1 reference

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COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Primary glomerulonephritis in mainland China: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

21 January 2018

ER stress and diseases.

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJMCB%2FMJU040

21 January 2018

Identifiers

DOI

10.1093/JMCB/MJU040

1 reference

6 March 2018

1 reference

6 March 2018