(Q30403401)

English

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

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scholarly article

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15 October 2017

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay (English)

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Europe PubMed Central

PMC publication ID

15 October 2017

congenital disorder

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congenital contractures of the limbs and face, hypotonia, and developmental delay

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De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

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Evan A Boyle

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Jessica X. Chong

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Jessica X Chong

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Jay Shendure

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15 October 2017

University of Washington Center for Mendelian Genomics

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University of Washington Center for Mendelian Genomics

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Arnaud Monteil

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Deborah A Nickerson

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Raoul C M Hennekam

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Malgorzata J M Nowaczyk

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Paige Kaplan

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Jolien S Klein Wassink-Ruiter

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Elizabeth McPherson

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Elizabeth W McPherson

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Angela E Scheuerle

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Angela E Scheuerle

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Vandana Shashi

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Cathy A. Stevens

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Cathy A Stevens

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Philippe Lory

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Margaret J McMillin

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Kathryn M Shively

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Jose R Armenteros

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Catherine L Mercer

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Regina A Moreno

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John C Carey

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Joshua D Smith

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publication date

12 February 2015

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American Journal of Human Genetics

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15 October 2017

96

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3

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15 October 2017

462-473

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15 October 2017

Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells

1 reference

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20 June 2018

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

1 reference

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20 June 2018

The sodium leak channel, NALCN, in health and disease

1 reference

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MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

1 reference

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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

1 reference

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20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

1 reference

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20 June 2018

A uniquely adaptable pore is consistent with NALCN being an ion sensor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

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Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

1 reference

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RNA-Seq profiling of spinal cord motor neurons from a presymptomatic SOD1 ALS mouse

1 reference

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Mutations in ECEL1 cause distal arthrogryposis type 5D

1 reference

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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

1 reference

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Phylogeny unites animal sodium leak channels with fungal calcium channels in an ancient, voltage-insensitive clade

1 reference

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1 reference

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20 June 2018

Involvement of Na(+)-leak channel in substance P-induced depolarization of pacemaking activity in interstitial cells of Cajal

1 reference

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Sodium leak channels in neuronal excitability and rhythmic behaviors

1 reference

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A sodium leak current regulates pacemaker activity of adult central pattern generator neurons in Lymnaea stagnalis

1 reference

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20 June 2018

Genetic analysis of mouse strains with variable serum sodium concentrations identifies the Nalcn sodium channel as a novel player in osmoregulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

Genetic analysis of crawling and swimming locomotory patterns in C. elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

Sodium channel mutations in epilepsy and other neurological disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

20 June 2018

Mutation of perinatal myosin heavy chain associated with a Carney complex variant

1 reference

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Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

1 reference

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20 June 2018

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375444

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Cloning of a novel four repeat protein related to voltage-gated sodium and calcium channels

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A genetic and mosaic analysis of a locus involved in the anesthesia response of Drosophila melanogaster

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A revised and extended classification of the distal arthrogryposes

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Food deprivation and nicotine correct akinesia and freezing in Na(+) -leak current channel (NALCN)-deficient strains of Caenorhabditis elegans

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Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

1 reference

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

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Gly341Arg mutation indicating malignant hyperthermia susceptibility:

1 reference

https://pubmed.ncbi.nlm.nih.gov/25683120

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype relationships in Freeman-Sheldon syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25683120

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

1 reference

https://pubmed.ncbi.nlm.nih.gov/25683120

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2015.01.003

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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