Results 11 to 20 of about 3,708 (153)

Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene

Stem Cell Research, 2022
LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui, Jing Tan, Jing Jin, Weijiao Ye, Yaping Zhou, Junqing Chen   +5 more
doaj   +3 more sources

LAMA2 and LOXL4 are candidate FSGS genes [PDF]

BMC Nephrology, 2021
Background Focal and segmental glomerulosclerosis (FSGS) is a histologic pattern of injury that characterizes a wide spectrum of diseases. Many genetic causes have been identified in FSGS but even in families with comprehensive testing, a significant ...
Poornima Vijayan, Saidah Hack, Tony Yao, Mohammad Azfar Qureshi, Andrew D. Paterson, Rohan John, Bernard Davenport, Rachel Lennon, York Pei, Moumita Barua   +9 more
doaj   +6 more sources

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. [PDF]

J Clin Lab Anal, 2021
Khorrami A, Goleij P, Karamad V, Taheri E, Shadman B, Emami P, Jahangirzadeh G, Hajazimian S, Isazadeh A, Baradaran B, Heidari M.   +10 more
europepmc   +2 more sources

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study [PDF]

Frontiers in Neurology
BackgroundLAMA2-related congenital muscular dystrophy (LAMA2-MD) is a genetically heterogeneous disorder defined by progressive muscle weakness, brain structural abnormalities, epilepsy, and multisystem involvement.
Jian Zha, Ying Yu, Fangfang Cao, Zhaoshi Yi, Huaping Wu, Yong Chen, Jianmin Zhong, Xiongying Yu   +7 more
doaj   +2 more sources

A Spectrum of Pathogenic Variants in the <i>LAMA2</i> Gene in the Russian Federation. [PDF]

Int J Mol Sci
LAMA2-associated muscular dystrophy is a rare genetic disorder caused by pathogenic or likely pathogenic variants in the LAMA2 gene. The aim of this study is to characterize the spectrum of pathogenic/likely pathogenic variants in the LAMA2 gene among Russian patients, identify frequent pathogenic variants specific to this population, and estimate the ...
Chausova P, Cherevatova T, Dadali E, Murtazina A, Bulakh M, Kurbatov S, Anisimova I, Kanivets I, Udalova V, Rudenskaya G, Demina N, Sharkova I, Monakhova A, Tsygankova P, Markova T, Ryzhkova O, Shatohina O, Galkina V, Borovikov A, Mishina I, Shchagina O, Chukhrova A, Polyakov A.   +22 more
europepmc   +3 more sources

An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy. [PDF]

Cureus
Mutations in the alpha-2 subunits of the laminin gene (LAMA2) cause an autosomal recessive congenital muscular dystrophy (CMD) subtype known as laminin a2-related muscular dystrophies (LAMA2-RD). LAMA2-RD can present with a wide range of phenotypes ranging from severe infantile congenital muscular dystrophy to milder adult-onset limb-girdle muscular ...
Saluja A, Ghotekar LH, Anees S, Haque A, Dhamija RK.   +4 more
europepmc   +3 more sources

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

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   +5 more sources

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants [PDF]

SAGE Open Medical Case Reports
Laminin α2-related muscular dystrophy is a rare autosomal recessive condition caused by mutations in the LAMA2 gene, with clinical presentations ranging from severe congenital forms to milder phenotypes resembling limb-girdle muscular dystrophy.
Azita Tavasoli, Shayan Eghdami, Maryam Kachuei, Saman Rouzbeh   +3 more
doaj   +2 more sources

Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2–deficient muscle [PDF]

JCI Insight
Laminin-α2–related congenital muscular dystrophy (LAMA2-CMD) is a severe neuromuscular disorder caused by mutations in the LAMA2 gene, leading to loss of heterotrimers laminin-211/221, key components of the skeletal muscle extracellular matrix.
Hailey J. Hermann, Ryan D. Wuebbles, Marisela Dagda, Axel Muñoz, Lauren L. Parker, Paula C. Guzman, Lola T. Byrne, Steven A. Moore, Dean J. Burkin   +8 more
doaj   +2 more sources

Derivation of human pluripotent stem cell line via CRISPR/Cas9 mediated deletion of exon 3 LAMA2 gene (DMBi001-A-1)

Stem Cell Research, 2021
LAMA2-related muscular dystrophy (LAMA2-MD) results from mutations in LAMA2 gene, encoding laminin α-2. It is a congenital disease characterized by muscle wasting, with the most severe version being diagnosed within first few months after birth.
Sarka Jelinkova, Alicja Martyniak, Józef Dulak, Jacek Stępniewski   +3 more
doaj   +1 more source