(Q30571081)

21 August 2017

NPHP4 variants are associated with pleiotropic heart malformations (English)

1 reference

21 August 2017

1 reference

20

1 reference

24 June 2017

26

1 reference

24 June 2017

25

0 references

Hanne Meijers-Heijboer

21

Hanne Meijers-Heijboer

0 references

Guangliang Wang

Guangliang Wang

6

0 references

Jeffrey D Amack

Jeffrey D Amack

28

0 references

Hanka Venselaar

Hanka Venselaar

18

0 references

Zohreh Rahimi

Zohreh Rahimi

19

0 references

Ben A Oostra

27

Ben A Oostra

1 reference

21 August 2017

Vanessa M French

1

1 reference

21 August 2017

Ingrid M B H van de Laar

2

1 reference

21 August 2017

Marja W Wessels

3

1 reference

21 August 2017

Christan Rohe

4

1 reference

21 August 2017

Jolien W Roos-Hesselink

5

1 reference

21 August 2017

Ingrid M E Frohn-Mulder

7

1 reference

21 August 2017

Lies-Anne Severijnen

8

1 reference

21 August 2017

Bianca M de Graaf

9

1 reference

21 August 2017

Rachel Schot

10

1 reference

21 August 2017

Guido Breedveld

11

1 reference

21 August 2017

Edwin Mientjes

12

1 reference

21 August 2017

Marianne van Tienhoven

13

1 reference

21 August 2017

Elodie Jadot

14

1 reference

21 August 2017

Zhengxin Jiang

15

1 reference

21 August 2017

Annemieke Verkerk

16

1 reference

21 August 2017

Sigrid Swagemakers

17

1 reference

21 August 2017

Esther de Graaff

22

1 reference

21 August 2017

Wim A Helbing

23

1 reference

21 August 2017

Rob Willemsen

24

1 reference

21 August 2017

Aida M Bertoli-Avella

29

1 reference

21 August 2017

1 May 2012

1 reference

21 August 2017

1 reference

21 August 2017

110

1 reference

21 August 2017

12

1 reference

21 August 2017

1564-1574

1 reference

The ciliary transitional zone and nephrocystins

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Mechanisms of nephronophthisis and related ciliopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Oda16/Wdr69 is essential for axonemal dynein assembly and ciliary motility during zebrafish embryogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Nephrocystin-3 is required for ciliary function in zebrafish embryos

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Making sense of cilia in disease: the human ciliopathies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Disorders of left-right asymmetry: heterotaxy and situs inversus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Nephronophthisis: disease mechanisms of a ciliopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

When cilia go bad: cilia defects and ciliopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Nephronophthisis-associated ciliopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

The roles of cilia in developmental disorders and disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Genetics of human heterotaxias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Molecular genetics of heterotaxy syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Two populations of node monocilia initiate left-right asymmetry in the mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Genetics of human laterality disorders: insights from vertebrate model systems

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

X-linked situs abnormalities result from mutations in ZIC3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

A point mutation responsible for human erythrocyte AMP deaminase deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Familial transposition of the great arteries caused by multiple mutations in laterality genes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Evidence of Oligogenic Inheritance in Nephronophthisis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

The zebrafishnodal-related genesouthpawis required for visceral and diencephalic left-right asymmetry

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916111

The key to left-right asymmetry

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22550138

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22550138

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1161/CIRCRESAHA.112.269795

1 reference

21 August 2017

1 reference

21 August 2017

1 reference