(Q35882763)

English

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

scientific article published in June 1996

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651294%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein (English)

1 reference

Europe PubMed Central

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16 October 2019

congenital disorder

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congenital muscular dystrophy

1 reference

based on heuristic

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author name string

Nissinen M

1

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16 October 2019

Helbling-Leclerc A

2

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16 October 2019

Zhang X

3

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16 October 2019

Evangelista T

4

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16 October 2019

Topaloglu H

5

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16 October 2019

Cruaud C

6

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16 October 2019

Weissenbach J

7

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16 October 2019

Fardeau M

8

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16 October 2019

Tomé FM

9

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16 October 2019

Schwartz K

10

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16 October 2019

Tryggvason K

11

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16 October 2019

Guicheney P

12

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16 October 2019

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1 June 1996

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16 October 2019

American Journal of Human Genetics

1 reference

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16 October 2019

58

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16 October 2019

6

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16 October 2019

1177-1184

1 reference

Europe PubMed Central

PMC publication ID

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16 October 2019

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

A single EGF-like motif of laminin is responsible for high affinity nidogen binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Two non-contiguous regions contribute to nidogen binding to a single EGF-like motif of the laminin gamma 1 chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

A new nomenclature for the laminins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Muscular dystrophies: diseases 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=1915067

11 July 2018

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Laminin, a multidomain protein. The A chain has a unique globular domain and homology with the basement membrane proteoglycan and the laminin B chains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Fibronectin, laminin, type I, III and IV collagens in Duchenne's muscular dystrophy, congenital muscular dystrophies and congenital myopathies: an immunocytochemical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Merosin, a tissue-specific basement membrane protein, is a laminin-like protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Primary structure of the human laminin A chain. Limited expression in human tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Common structural motifs in proteins of the extracellular matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

'Touchdown' PCR to circumvent spurious priming during gene amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Drosophila laminin A chain sequence, interspecies comparison, and domain structure of a major carboxyl portion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

11 July 2018

Cloning and expression of laminin alpha 2 chain (M-chain) in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

24 September 2018

Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

24 September 2018

Molecular cloning of a novel laminin chain, alpha 5, and widespread expression in adult mouse tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

24 September 2018

Congenital muscular dystrophy with merosin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915067

14 November 2018

The laminin family

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen types in neuromuscular diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

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Europe PubMed Central

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16 October 2019

PubMed publication ID

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Europe PubMed Central

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16 October 2019

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