Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies (Q33645910)

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English	Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 July 2017

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

10

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28 July 2017

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object named as

Bernard Brais

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Ibrahim Mahjneh

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Ibrahim Mahjneh

15

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Gareth Marlow

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object named as

Kym M Boycott

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28 July 2017

Marianne de Visser

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Marianne de Visser

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28 July 2017

author name string

Véronique Bolduc

1

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28 July 2017

Khalil Saleki

4

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28 July 2017

Hiroshi Inoue

5

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28 July 2017

Johan Kroon

6

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28 July 2017

Mitsuo Itakura

7

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28 July 2017

Yves Robitaille

8

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28 July 2017

Lucie Parent

9

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28 July 2017

Kuniko Mizuta

11

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28 July 2017

Nobuyuki Kamata

12

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28 July 2017

Isabelle Richard

13

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28 July 2017

Wim H J P Linssen

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28 July 2017

Rumaisa Bashir

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28 July 2017

language of work or name

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publication date

21 January 2010

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28 July 2017

American Journal of Human Genetics

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28 July 2017

86

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28 July 2017

2

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28 July 2017

213-221

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28 July 2017

Loss of TMEM16A causes a defect in epithelial Ca2+-dependent chloride transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

TMEM16 proteins produce volume-regulated chloride currents that are reduced in mice lacking TMEM16A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

ANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Nonsense-mediated mRNA decay (NMD) mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

MG53 nucleates assembly of cell membrane repair machinery.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Dysferlinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Expression cloning of TMEM16A as a calcium-activated chloride channel subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Expression of TMEM16 paralogs during murine embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

TMEM16A confers receptor-activated calcium-dependent chloride conductance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Caveolin regulates endocytosis of the muscle repair protein, dysferlin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Dysferlin and muscle membrane repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Dysferlin in membrane trafficking and patch repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Processing and assembly of the dystrophin glycoprotein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

ClC-1 chloride channel: Matching its properties to a role in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Requirement for annexin A1 in plasma membrane repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Phylogeny of the TMEM16 protein family: some members are overexpressed in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Rapid increase in plasma membrane chloride permeability during wound resealing in starfish oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

An emergency response team for membrane repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Calcium-activated chloride channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Defective membrane repair in dysferlin-deficient muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

The earliest pathologic alterations in dysferlinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Molecular basis of muscular dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

21 June 2018

Transmembrane protein 16A (TMEM16A) is a Ca2+-regulated Cl- secretory channel in mouse airways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

30 October 2018

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

30 October 2018

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

30 October 2018

Limb–girdle muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820170

30 October 2018

Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/20096397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A calcium-activated chloride channel in sarcoplasmic reticulum vesicles from rabbit skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/20096397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular localization of dysferlin and its association with the dihydropyridine receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/20096397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.12.013

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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