(Q40347273)

English

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.

scientific article published on 6 November 2015

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scholarly article

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Europe PubMed Central

PubMed publication ID

19 September 2017

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 September 2017

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1 reference

based on heuristic

inferred from title

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Ramon Y Birnbaum

8

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26545877%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

9

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6 June 2020

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Yonatan Perez

1

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6 June 2020

Rotem Kadir

2

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6 June 2020

Michael Volodarsky

3

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6 June 2020

Iris Noyman

4

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6 June 2020

Hagit Flusser

5

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6 June 2020

Zamir Shorer

6

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6 June 2020

Libe Gradstein

7

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6 June 2020

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publication date

6 November 2015

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19 September 2017

Journal of Medical Genetics

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6 June 2020

53

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6 June 2020

6

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6 June 2020

397-402

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6 June 2020

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Clustal W and Clustal X version 2.0

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

UNC80 functions as a scaffold for Src kinases in NALCN channel function

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

A putative cation channel and its novel regulator: cross-species conservation of effects on general anesthesia

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

A gene-targeting approach for functional characterization of KIAA genes encoding extremely large proteins.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

UNC79 and UNC80, putative auxiliary subunits of the NARROW ABDOMEN ion channel, are indispensable for robust circadian locomotor rhythms in Drosophila

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Sodium leak channels in neuronal excitability and rhythmic behaviors

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103352

21 January 2018

Identifiers

10.1136/JMEDGENET-2015-103352

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26545877%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26545877%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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