Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness (Q39299942)

10 September 2017

title

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness (English)

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congenital stationary night blindness

10 September 2017

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author

José-Alain Sahel

11

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11 June 2020

Isabelle Audo

13

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11 June 2020

Christina Zeitz

15

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11 June 2020

author name string

M Neuillé

1

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S Malaichamy

2

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11 June 2020

M Vadalà

3

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C Michiels

4

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C Condroyer

5

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R Sachidanandam

6

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S Srilekha

7

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T Arokiasamy

8

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M Letexier

9

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V Démontant

10

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P Sen

12

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N Soumittra

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publication date

29 January 2016

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10 September 2017

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volume

89

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issue

6

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11 June 2020

page(s)

690-699

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Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms

11 June 2020

cites work

1 reference

Congenital stationary night blindness with negative electroretinogram. A new classification

21 January 2018

1 reference

The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction

21 January 2018

1 reference

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

21 January 2018

1 reference

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

21 January 2018

1 reference

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

21 January 2018

1 reference

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

21 January 2018

1 reference

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

21 January 2018

1 reference

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

21 January 2018

1 reference

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

21 January 2018

1 reference

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

21 January 2018

1 reference

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

21 January 2018

1 reference

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

21 January 2018

1 reference

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

21 January 2018

1 reference

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

21 January 2018

1 reference

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

21 January 2018

1 reference

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

21 January 2018

1 reference

Luminance dependence of neural components that underlies the primate photopic electroretinogram

21 January 2018

1 reference

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

21 January 2018

1 reference

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

21 January 2018

1 reference

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

21 January 2018

1 reference

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness

21 January 2018

1 reference

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

21 January 2018

1 reference

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

21 January 2018

1 reference

GNAT1 associated with autosomal recessive congenital stationary night blindness

21 January 2018

1 reference

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness

21 January 2018

1 reference

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit

21 January 2018

1 reference

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation

21 January 2018

1 reference

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

21 January 2018

1 reference

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

21 January 2018

1 reference

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

21 January 2018

1 reference

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

21 January 2018

1 reference

ISCEV Standard for full-field clinical electroretinography (2008 update).

21 January 2018

1 reference

Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family

21 January 2018

1 reference

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

21 January 2018

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A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.

21 January 2018

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Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

21 January 2018

1 reference

Na+/Ca2+-K+ exchangers (NCKX): functional properties and physiological roles

21 January 2018

1 reference

The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond

21 January 2018

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Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunit

21 January 2018

1 reference

The SLC24 gene family of Na⁺/Ca²⁺-K⁺ exchangers: from sight and smell to memory consolidation and skin pigmentation

21 January 2018

1 reference

Scanning mutagenesis of the alpha repeats and of the transmembrane acidic residues of the human retinal cone Na/Ca-K exchanger

21 January 2018

1 reference

Residues contributing to the Na(+)-binding pocket of the SLC24 Na(+)/Ca(2+)-K(+) Exchanger NCKX2.

21 January 2018

1 reference

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

21 January 2018

1 reference

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

21 January 2018

1 reference

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12746

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26822852%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

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