Results 11 to 20 of about 3,643 (133)

Novel LAMA2 variants identified in a patient with white matter abnormalities [PDF]

Human Genome Variation, 2020
AbstractComprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 
Keiko Yamamoto-Shimojima, Hiroaki Ono, Taichi Imaizumi, Toshiyuki Yamamoto   +3 more
openaire   +2 more sources

Severe Congenital Muscular Dystrophy in a LAMA2-Mutated Case [PDF]

Pediatric Neurology, 2007
Clinical features and molecular data are described for a patient with undetectable expression of laminin alpha2 chain (merosin) and severe congenital muscular dystrophy. Molecular analysis of the LAMA2 gene revealed two previously un-described mutations.
Blasi, C. Di, Alfen, N. van, Colleoni, F., Laak, H.J. ter, Mora, M.   +4 more
openaire   +3 more sources

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A) [PDF]

Journal of Neuropathology & Experimental Neurology, 2020
Abstract Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities.
Himali Jayakody, Sanam Zarei, Huy Nguyen, Joline Dalton, Kelly Chen, Louanne Hudgins, John Day, Kara Withrow, Arti Pandya, Jean Teasley, William B Dobyns, Katherine D Mathews, Steven A Moore   +12 more
openaire   +2 more sources

Outcome Measures for COL6 and LAMA2-Related Dystrophies

Pediatric Neurology Briefs, 2020
Investigators from the NIH performed a longitudinal, prospective, natural history study looking at patients with COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs), the two most common congenital muscular dystrophies (CMDs).
Schwaede, Abigail N., Kuntz, Nancy L.
openaire   +4 more sources

Child Neurology: LAMA2 muscular dystrophy without contractures [PDF]

Neurology, 2017
The limb-girdle muscular dystrophies (LGMD) comprise a large group of genetic disorders that lead to shoulder and pelvic girdle muscle weakness. Although these disorders are grouped together based on phenotypic presentation, there is extensive genetic variability among them.
Marissa, Dean, Salman, Rashid, William, Kupsky, Steven A, Moore, Huiyuan, Jiang   +4 more
openaire   +2 more sources

Staphylococcal Superantigens Use LAMA2 as a Coreceptor To Activate T Cells [PDF]

The Journal of Immunology, 2018
Abstract Canonical Ag-dependent TCR signaling relies on activation of the src-family tyrosine kinase LCK. However, staphylococcal superantigens can trigger TCR signaling by activating an alternative pathway that is independent of LCK and utilizes a Gα11-containing G protein–coupled receptor (GPCR) leading to PLCβ activation.
Zhigang Li, Joseph J Zeppa, Mark A Hancock, John K McCormick, Terence M Doherty, Geoffrey N Hendy, Joaquín Madrenas   +6 more
openaire   +2 more sources

Modulation of miR‐23b Wnt/β‐catenin Axis Strengthens Endothelial Barrier Properties

Advanced Science, EarlyView.
Early blood‐brain barrier (BBB) disruption contributes to stroke and CNS disease pathology. miR‐23b was identified as a regulator of BBB integrity in brain endothelial cells. Inhibition of miR‐23b enhanced barrier‐associated properties, promoted repair‐related signaling, and reduced BBB leakage in experimental stroke models, supporting further ...
Victor Anthony Martinez, Rose E. Presby, Sara Nakanishi, Pallavi Gaur, Ugur Akcan, Johannes Daugaard Krog, Iben Daugaard Krog, Lipi Das, David S. Johnson, Danny Jamoul, Douglas Jury, Brian Lawson, Jacob Körbelin, Lewis M. Brown, Vilas Menon, Dritan Agalliu, Irene Munk Pedersen   +16 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Editorial: Current Insights Into LAMA2 Disease [PDF]

Frontiers in Molecular Neuroscience, 2021
Stefano C. Previtali, Ronald D. Cohn, Ronald D. Cohn, Markus A. Ruegg   +3 more
openaire   +4 more sources

Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes [PDF]

Frontiers in Molecular Neuroscience, 2019
An understanding of basement membrane (BM) assembly at a molecular level provides a foundation with which to develop repair strategies for diseases with defects of BM structure. As currently understood, laminins become anchored to cell surfaces through receptor-mediated interactions and polymerize.
Yurchenco, Peter D., McKee, Karen K.
openaire   +3 more sources