(Q35103796)

6 August 2017

title

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis (English)

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6 August 2017

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6

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6 August 2017

Donna S Mackay

3

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author name string

Panagiotis I Sergouniotis

1

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6 August 2017

Alice E Davidson

2

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6 August 2017

Zheng Li

4

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6 August 2017

Xu Yang

5

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6 August 2017

Anthony T Moore

7

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6 August 2017

Andrew R Webster

8

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6 August 2017

language of work or name

English

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publication date

1 July 2011

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American Journal of Human Genetics

6 August 2017

published in

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6 August 2017

volume

89

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6 August 2017

issue

1

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6 August 2017

page(s)

183-190

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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Inwardly rectifying potassium channels: their structure, function, and physiological roles

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Crystal Structure of the Eukaryotic Strong Inward-Rectifier K+ Channel Kir2.2 at 3.1 A Resolution

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Leber congenital amaurosis: genes, proteins and disease mechanisms

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Clinical features of the congenital vitreoretinopathies

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Role of C-terminus of Kir7.1 potassium channel in cell-surface expression.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Functional Kir7.1 channels localized at the root of apical processes in rat retinal pigment epithelium

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Inwardly rectifying K+ channel Kir7.1 is highly expressed in thyroid follicular cells, intestinal epithelial cells and choroid plexus epithelial cells: implication for a functional coupling with Na+,K+-ATPase

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

The epithelial inward rectifier channel Kir7.1 displays unusual K+ permeation properties.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Comprehensive human genetic maps: individual and sex-specific variation in recombination

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

A novel inward rectifier K+ channel with unique pore properties

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Snowflake vitreoretinal degeneration: follow-up of the original family

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Snowflake degeneration in hereditary vitreoretinal degeneration

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135807

Hereditary snowflake vitreoretinal degeneration

27 September 2018

1 reference

12 December 2020

Snowflake degeneration of the retina

1 reference

12 December 2020

Snowflake degeneration: an independent entity or a variant of retinitis pigmentosa?

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

10.1016/J.AJHG.2011.06.002

Identifiers

DOI

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6 August 2017

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6 August 2017

1 reference