Results 41 to 50 of about 3,643 (133)

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients

Journal of Neuromuscular Diseases, 2014
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle stability establishing a bond between the sarcolemma and the extracellular matrix.
Jorge, Oliveira, Ana, Gonçalves, Márcia E, Oliveira, Isabel, Fineza, Rita C M, Pavanello, Mariz, Vainzof, Elsa, Bronze-da-Rocha, Rosário, Santos, Mário, Sousa   +8 more
openaire   +3 more sources

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

LAMA2 Gene Analysis in Congenital Muscular Dystrophy

, 2005
n ...
Di Blasi, Claudia, Piga, Daniela, Brioschi, Paolo, Moroni, Isabella, Pini, Antonella, Ruggieri, Alessandra, Zanotti, Simona, Uziel, Graziella, Jarre, Laura, Della Giustina, Elvio, Scuderi, Carmela, Jonsrud, Christoffer, Mantegazza, Renato, Morandi, Lucia, Mora, Marina   +14 more
openaire   +1 more source

Dual AAV amelioration of Lama2-null muscular dystrophy and neuropathy

ABSTRACT The dy 3K /dy 3K Lama2 -/- mouse is a model for the severe form of LAMA2-related dystrophy and ...
Karen K. McKee, Peter D. Yurchenco
openaire   +2 more sources

The impact of Lama2-deficiency on cell cycle regulation and survival

, 2022
A distrofia muscular congénita deficiente na cadeia α2 da laminina (LAMA2-CMD) é causada por mutações recessivas no gene LAMA2. Esta doença neuromuscular é diagnosticada à nascença ou nos primeiros meses de vida e é caracterizada por hipotonia e fraqueza muscular grave.
openaire   +1 more source

Characterizing the impact of LAMA2-deficiency in cancer cell lines

, 2023
Tese de mestrado, Biologia Evolutiva e Desenvolvimento, 2023, Universidade de Lisboa, Faculdade de ...
openaire   +1 more source

Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease. [PDF]

Hum Mol Genet
Lok HC, Dobson-Stone C, Hallupp M, Matis S, Landin-Romero R, Guennewig B, Mundell H, Don AS, Fifita J, McCann EP, Fat SCM, Blair IP, Mather KA, Thalamuthu A, Wen W, Sachdev PS, Brooks WS, Piguet O, Halliday GM, Kim WS, Kwok JB.   +20 more
europepmc   +1 more source

Low LAMA2 expression may affect drug resistance and prognosis in ovarian cancer via positive LGR5 coexpression. [PDF]

Transl Cancer Res
Du Z, Su Y, Xia L, Lei S, Ke Y, Chen X, Liu X, Yin F.   +7 more
europepmc   +1 more source

Glomerular basement membrane structural integrity dictates trans-tissue deposition of laminin in the kidney. [PDF]

Cell Rep
Omachi K, Lin MH, Puapatanakul P, Begin JF, McKee KK, Fujiwara H, Yurchenco PD, Miner JH.   +7 more
europepmc   +1 more source

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source