(Q51076314)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23574405%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility (English)

1 reference

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28 February 2020

4

1 reference

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28 February 2020

Fowzan S Alkuraya

6

1 reference

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28 February 2020

author name string

A M Alazami

1

1 reference

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28 February 2020

M J Alshammari

2

1 reference

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28 February 2020

M Baig

3

1 reference

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28 February 2020

H H Hassan

5

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28 February 2020

publication date

26 April 2013

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28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23574405%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

85

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28 February 2020

issue

4

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28 February 2020

page(s)

371-375

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Renal transplantation, chronic dialysis, and chronic renal insufficiency in children and adolescents. The 1995 Annual Report of the North American Pediatric Renal Transplant Cooperative Study.

28 February 2020

cites work

1 reference

Nephronophthisis: disease mechanisms of a ciliopathy

21 January 2018

1 reference

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

21 January 2018

1 reference

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

21 January 2018

1 reference

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

21 January 2018

1 reference

Molecular characterization of Joubert syndrome in Saudi Arabia.

21 January 2018

1 reference

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

21 January 2018

1 reference

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

21 January 2018

1 reference

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

21 January 2018

1 reference

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

21 January 2018

1 reference

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

21 January 2018

1 reference

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

21 January 2018

1 reference

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

21 January 2018

1 reference

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12160

1 reference

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28 February 2020

1 reference