Defects of CRB2 cause steroid-resistant nephrotic syndrome. (Q34902982)

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26 February 2020

title

Defects of CRB2 cause steroid-resistant nephrotic syndrome (English)

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26 February 2020

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Heon Yung Gee

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Michael Simpson

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26 February 2020

Erkin Serdaroglu

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Shawn Levy

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26 February 2020

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Moin A Saleem

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26 February 2020

author name string

Shazia Ashraf

2

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26 February 2020

Agnieszka Bierzynska

3

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Hugh J McCarthy

5

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Svjetlana Lovric

6

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26 February 2020

Carolin E Sadowski

7

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26 February 2020

Werner Pabst

8

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Humphrey Fang

10

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Ania Koziell

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Ismail Dursun

13

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Friedhelm Hildebrandt

17

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Arindam Majumdar

18

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26 February 2020

Virginia Vega-Warner

9

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language of work or name

English

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publication date

31 December 2014

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American Journal of Human Genetics

26 February 2020

published in

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volume

96

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26 February 2020

page(s)

153-161

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26 February 2020

issue

1

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Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

26 February 2020

cites work

1 reference

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Planar cell polarity pathway regulates nephrin endocytosis in developing podocytes

8 July 2018

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Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene

8 July 2018

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Crb apical polarity proteins maintain zebrafish retinal cone mosaics via intercellular binding of their extracellular domains

8 July 2018

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CRB1 mutations in inherited retinal dystrophies

8 July 2018

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Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

8 July 2018

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Slit diaphragms contain tight junction proteins

8 July 2018

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A systematic approach to mapping recessive disease genes in individuals from outbred populations

8 July 2018

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Using retroviruses as a mutagenesis tool to explore the zebrafish genome.

8 July 2018

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Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity

8 July 2018

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The spectrum of podocytopathies: a unifying view of glomerular diseases.

8 July 2018

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Mutagenesis strategies in zebrafish for identifying genes involved in development and disease

8 July 2018

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CRB1 mutation spectrum in inherited retinal dystrophies

8 July 2018

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Identification and characterization of podocalyxin--the major sialoprotein of the renal glomerular epithelial cell

8 July 2018

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The tight junction protein ZO-1 is concentrated along slit diaphragms of the glomerular epithelium

8 July 2018

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aPKCλ maintains the integrity of the glomerular slit diaphragm through trafficking of nephrin to the cell surface.

8 July 2018

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Distinct cellular mechanisms of blood vessel fusion in the zebrafish embryo.

26 October 2018

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A reverse genetic screen in the zebrafish identifies crb2b as a regulator of the glomerular filtration barrier

26 October 2018

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Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

26 October 2018

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High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

26 October 2018

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The glomerular slit diaphragm is a modified adherens junction

9 December 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25557779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25557779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25557779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.11.014

1 reference

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26 February 2020

1 reference

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26 February 2020

1 reference

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