Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain
about
Form and function: the laminin family of heterotrimersMutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyThe expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and reviewLaminin L4 domain structure resembles adhesion modules in ephrin receptor and other transmembrane glycoproteinsCrystallographic analysis of the laminin β2 short arm reveals how the LF domain is inserted into a regular array of LE domainsAugmented synthesis and differential localization of heparan sulfate proteoglycans in Duchenne muscular dystrophyPresence of Laminin 5 Chain and Lack of Laminin 1 Chain during Human Muscle Development and in Muscular DystrophiesPCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophyDiagnostic protein expression in human muscle biopsies.Laminins: structure and genetic regulation.Laminins and human disease.Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathiesLimb-girdle muscular dystrophies--from genetics to molecular pathology.Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamsterDiagnostic immunohistochemistry in neuromuscular disorders.Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.Progressive muscular dystrophy in alpha-sarcoglycan-deficient miceMembrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex.Laminin polymerization induces a receptor-cytoskeleton networkLaminin-211 in skeletal muscle function.The congenital muscular dystrophies: recent advances and molecular insights.Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Human pathogens utilize host extracellular matrix proteins laminin and collagen for adhesion and invasion of the host.The role of laminins in the organization and function of neuromuscular junctions.Chimeric protein repair of laminin polymerization ameliorates muscular dystrophy phenotype.Laminin {alpha}1 chain corrects male infertility caused by absence of laminin {alpha}2 chainThe role of laminins in basement membrane function.Regulation of the blood-testis barrier by a local axis in the testis: role of laminin α2 in the basement membrane.Cav 2.3 (R-type) calcium channels are critical for mediating anticonvulsive and neuroprotective properties of lamotrigine in vivo.Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies.
P2860
Q22254277-6DB97521-6DE0-4464-B1EC-99B0B84F357EQ24561893-91327035-AB63-4E14-8C49-055CFB0844BCQ24680748-1145CCCF-D802-4485-B83C-6D02B674E672Q27700832-377C2CF4-33C2-4A0F-94CC-6340F79EC0FEQ27720092-AFDEC8D8-6A37-4E5C-9155-30AF6C0279C8Q28215514-3464E57B-FA61-4120-B31A-0B258734D5EEQ29040531-F3E4565A-D5BE-48C6-AB12-330CAAFBC8F3Q33680352-53004566-F9C1-48DC-92F6-C9DD9A11BA20Q33891334-BED9D4AF-1E81-4CD1-B25F-7F2E3B10CAC5Q34071960-E6689940-E8D7-4C99-9A32-809D301C6F0EQ34071975-42EAC97A-3641-43C5-B845-36FDDD6AB91BQ34100017-E895B31D-9496-408A-8AE0-1A273633AB4BQ34145035-5B61CBAA-5534-451D-AF68-B4467C48ABD5Q34766986-69091E9B-5D3E-4B39-898B-E53C7D68E0C9Q35714351-FA911B1B-4969-47EF-AA32-F0763187955FQ35754551-527102C2-94CA-4F23-AA93-15CBE284AE46Q36012956-FC1B16A0-F842-4C50-8654-CF13D08CBFBBQ36273863-4BE0F7CA-6779-49B5-B70B-0656B2A29C4DQ36276730-813C8915-AC07-4457-90E7-7B7E019CC6EAQ36288396-89EF6688-EDAA-42E7-9B67-EE91DBB66DD3Q36342173-0938CF94-E850-417D-AFB7-4E25DA308EACQ36531788-66653E8E-EAE6-4024-91DE-93773B194BB2Q36681282-4A0FBDC0-DA8C-4B8B-B43D-151209B13400Q37411771-F5BA6971-3B9C-4248-9BAC-B04103F7F830Q37426320-4CD774BE-602F-4ACC-877E-89F67F1AAC7CQ38005762-B6295FC6-ACF8-42CB-A3A9-A729FFD09F68Q38950913-10C4119A-51F6-4F30-B31B-BBFA421FDECEQ38951841-9B52445D-E367-4696-B954-E6FCF165AB60Q41086617-84EFA96D-23C3-4984-9648-28C146ADB085Q42461921-2F183AA1-79EF-45D0-A97A-6291FC642F1FQ42501409-3423CBA6-76DB-4805-9C42-2E243285AD4AQ43682395-881D9D9F-1430-482C-B189-983F39168FA1Q47345657-D0DF1893-7605-40FA-B744-D44E703FD33B
P2860
Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain
description
1997 nî lūn-bûn
@nan
1997 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@ast
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@en
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@nl
type
label
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@ast
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@en
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@nl
prefLabel
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@ast
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@en
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@nl
P2093
P2860
P356
P1476
Mild congenital muscular dystr ...... y deleted laminin alpha2-chain
@en
P2093
H Colognato
K P Campbell
K Tryggvason
L M Sorokin
M H Al-Turaiki
P D Yurchenco
P2860
P304
P356
10.1093/HMG/6.5.747
P407
P577
1997-05-01T00:00:00Z