Laminin subunit alpha-2 (redirect from LAMA2)
Laminin subunit alpha-2 is a protein that in humans is encoded by the LAMA2 gene. Laminin, an extracellular matrix protein, is a major component of the...
7 KB (975 words) - 23:18, 3 March 2023
different alpha-, beta-, and gamma-chains. Five alpha-chain isoforms: LAMA1, LAMA2, LAMA3 (which has three splice forms), LAMA4, LAMA5 Four beta-chain isoforms:...
31 KB (3,430 words) - 03:11, 4 July 2024
for around one-third of all CMD cases and is caused by mutations in the LAMA2 gene on the 6q2 chromosome, encoding for the laminin-α2 chain. Laminin-α2...
33 KB (3,524 words) - 16:06, 16 July 2024
Beroud, C; Udd, B (1 July 2021). "Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern". Neuromuscular...
91 KB (10,689 words) - 17:16, 24 July 2024
LGMD R23 laminin α2-related Laminin α2-related muscular dystrophy 156225 LAMA2 Congenital muscular dystrophy LGMD R24 POMGNT2-related POMGNT2-related muscular...
35 KB (2,786 words) - 02:50, 22 July 2024
muscular dystrophy, Merosin-deficient congenital muscular dystrophy (MDC1A) or LAMA2-related CMD, rigid spine syndrome and LMNA-related congenital muscular dystrophy...
18 KB (2,023 words) - 20:19, 25 July 2024
collagen 6-related LGMD R23 laminin α2-related LGMD R24 POMGNT2-related LAMA2-related (merosin deficient) congenital muscular dystrophy (Emery–Dreifuss...
9 KB (899 words) - 01:15, 30 January 2023
HGNC:6478 Q6ISS4 8530 LALBA HGNC:6480 P00709 8531 LAMA1 HGNC:6481 P25391 8532 LAMA2 HGNC:6482 P24043 8533 LAMA3 HGNC:6483 Q16787 8534 LAMA4 HGNC:6484 Q16363...
277 KB (17 words) - 15:46, 9 May 2024
Therapeutics Ltd. aims to develop a gene therapy for the severe LAMA2-related muscular dystrophy (LAMA2 MD). He is also scientific advisor to several biotech companies...
13 KB (1,326 words) - 07:53, 24 August 2023
including CMD Type 1 A (CMD 1A) caused by mutation in the human laminin α2 (LAMA2) gene. The zebrafish, because of its advantages discussed above, and in...
107 KB (11,875 words) - 01:28, 28 July 2024
for esthesioneuroblastoma. Mutations in dystrophin and Laminin, alpha 2 (LAMA2) have also been implicated in this disease. Esthesioneuroblastoma is of...
22 KB (2,029 words) - 00:14, 16 December 2023
merosin-deficient; 607855; LAMA2 Muscular dystrophy, congenital, due to ITGA7 deficiency; 613204; ITGA7 Muscular dystrophy, congenital, due to partial LAMA2 deficiency;...
234 KB (18,877 words) - 15:43, 9 May 2024
"Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene". Nature Genetics. 8 (3): 297–302. doi:10.1038/ng1194-297. PMID 7874173...
9 KB (935 words) - 23:39, 9 June 2024
Mendell, J. R. (1998). "Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy". Human Mutation. 12 (2): 135...
12 KB (1,297 words) - 16:44, 19 January 2024
dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients". Neuromuscular Disorders...
10 KB (1,133 words) - 22:20, 25 December 2021
Karl; Guicheney, Pascale (1995). "Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy". Nature Genetics...
16 KB (1,576 words) - 12:57, 16 January 2024
18 Integral membrane insertion into inner mitochondrial membrane 0.991 LAMA2 Laminin Subunit Alpha 2 Attachment to basement membrane 0.991 KCTD8 Potassium...
17 KB (1,184 words) - 22:02, 2 December 2023