Results 81 to 90 of about 3,944 (168)

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy

Frontiers in Genetics, 2018
Merosin-deficient CMD type 1A (MDC1A), caused by mutations of laminin subunit alpha 2 (LAMA2), is a predominant subtype of congenital muscular dystrophy (CMD).
Jing Zhou, Jianxin Tan, Dingyuan Ma, Jingjing Zhang, Jian Cheng, Chunyu Luo, Gang Liu, Yuguo Wang, Zhengfeng Xu   +8 more
doaj   +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

Pericytes Favor Oligodendrocyte Fate Choice in Adult Neural Stem Cells

Frontiers in Cellular Neuroscience, 2019
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Upon demyelination, oligodendrocyte progenitor cells (OPCs) are activated and they proliferate, migrate and differentiate into myelin-producing ...
Maria Elena Silva, Maria Elena Silva, Maria Elena Silva, Simona Lange, Simona Lange, Bryan Hinrichsen, Bryan Hinrichsen, Amber R. Philp, Amber R. Philp, Carolina R. Reyes, Carolina R. Reyes, Diego Halabi, Diego Halabi, Josselyne B. Mansilla, Josselyne B. Mansilla, Peter Rotheneichner, Peter Rotheneichner, Alerie Guzman de la Fuente, Sebastien Couillard-Despres, Sebastien Couillard-Despres, Sebastien Couillard-Despres, Luis F. Bátiz, Robin J. M. Franklin, Ludwig Aigner, Ludwig Aigner, Ludwig Aigner, Francisco J. Rivera, Francisco J. Rivera, Francisco J. Rivera, Francisco J. Rivera   +29 more
doaj   +1 more source

Diseased muscles that lack dystrophin or laminin-α2 have altered compositions and proliferation of mononuclear cell populations

BMC Neurology, 2005
Background Multiple types of mononucleate cells reside among the multinucleate myofibers in skeletal muscles and these mononucleate cells function in muscle maintenance and repair.
Miller Jeffrey, Kostek Christine A, Girgenrath Mahasweta   +2 more
doaj   +1 more source

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 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

Case Reports in Genetics, 2018
Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
Ivanka Dimova, Ivo Kremensky
doaj   +1 more source

Novel sequence variations in LAMA2 and SGCG genes modulating cis-acting regulatory elements and RNA secondary structure

Genetics and Molecular Biology, 2010
In this study, we detected new sequence variations in LAMA2 and SGCG genes in 5 ethnic populations, and analysed their effect on enhancer composition and mRNA structure.
Olfa Siala, Ikhlass Hadj Salem, Abdelaziz Tlili, Imen Ammar, Hanen Belguith, Faiza Fakhfakh   +5 more
doaj  

Evaluation of Some Proteins as Potential Markers in Different Durations of Diabetic Patients Type 2  

Ibn Al-Haitham Journal for Pure and Applied Sciences
Type 2 diabetic mellitus (T2DM) is growing rapidly around the world, due in large part to significant changes in the modern human lifestyle. T2DM and its complications are affected by a complex interplay of genetic, life course, ecological, cultural ...
Sarah Sameer Sami, Ekhlass M. Taha
doaj   +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