(Q37778326)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

review article

1 reference

title

CEP290, a gene with many faces: mutation overview and presentation of CEP290base (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Elfride De Baere

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Steve Lefever

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Bart P Leroy

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

publication date

1 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

1097-1108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

Identification of candidate genes potentially relevant to chamber-specific remodeling in postnatal ventricular myocardium

9 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

Activating transcription factor 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Proteomic characterization of the human centrosome by protein correlation profiling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Effect of gene therapy on visual function in Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

The primary cilium as a complex signaling center

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Molecular cloning of a tumor-associated antigen recognized by monoclonal antibody 3H11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Joubert syndrome: insights into brain development, cilium biology, and complex disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

The vertebrate primary cilium in development, homeostasis, and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Amino acid difference formula to help explain protein evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Subcellullar localization of tumor-associated antigen 3H11Ag

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Nephronophthisis: disease mechanisms of a ciliopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Nephronophthisis-associated ciliopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutation survey of known LCA genes and loci in the Saudi Arabian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Safety and efficacy of gene transfer for Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutation in CEP290 discovered for cat model of human retinal degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Retinal degeneration in the Abyssinian and Somali cat (rdAc): correlation between genotype and phenotype and rdAc allele frequency in two continents.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Centrioles, centrosomes, and cilia in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutational analysis in 119 families with nephronophthisis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21337

1 reference

7 January 2021

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

RPGR mutation analysis and disease: an update.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21337

1 reference

7 January 2021

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Expanding CEP290 mutational spectrum in ciliopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Genotypes and phenotypes of Joubert syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21337

7 January 2021

Identifiers

DOI

10.1002/HUMU.21337

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20690115%20AND%20SRC:MED&resulttype=core&format=json

release_gqb5wdip35fbfjhfpiopbltuli

9 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gqb5wdip35fbfjhfpiopbltuli

24 November 2022

mapped directly with Wikidata item

1 reference