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Laminin, alpha 2

LAMA2, Lamm, laminin alpha 2
Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, AGE, SLAM, OUT
Papers on LAMA2
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
Xiong et al., Beijing, China. In Brain Dev, Feb 2016
PURPOSE: LAMA2-related muscular dystrophy (LAMA2 MD) is an autosomal recessive inherited disease caused by LAMA2 gene mutation.
Dynamic Proteomic Analysis of Pancreatic Mesenchyme Reveals Novel Factors That Enhance Human Embryonic Stem Cell to Pancreatic Cell Differentiation.
Hebrok et al., San Francisco, United States. In Stem Cells Int, Dec 2015
Expression analysis of pancreata confirmed the presence of three potentially important factors in cell differentiation: Galectin-1 (LGALS1), Neuroplastin (NPTN), and the Laminin α-2 subunit (LAMA2).
Developmental pathways and endothelial to mesenchymal transition in canine myxomatous mitral valve disease.
Corcoran et al., Edinburgh, United Kingdom. In Vet J, Dec 2015
There was significant differential expression for genes typically associated with valvulogenesis and EndoMT, including markers of inflammation (IL6, IL18 and TLR4), basement membrane disarray (NID1, LAMA2 and CTSS), mesenchymal and endothelial cell differentiation (MYH11 and TAGLN) and EndoMT (ACTA2, SNAI1, CTNNB1, HAS2, CDH5, and NOTCH1), with fold changes from +15.35 (ACTA2) to -5.52 (LAMA2).
Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.
Yap et al., Singapore, Singapore. In Cancer Med, Dec 2015
which harbors two potential tumor suppressor genes, PTPRK and LAMA2, was also identified; this may increase tumor predisposition further.
Transcriptomic analyses of genes differentially expressed by high-risk and low-risk human papilloma virus E6 oncoproteins.
Ganguly et al., Bhubaneshwar, India. In Virusdisease, Sep 2015
The microarray results were confirmed by quantitative real-time PCR for some representative genes like IFI27, CTNNA1, OSMR, CYP1B1, TNFSF13, LAMA2 and COL5A3.
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Hammond et al., Rotterdam, Netherlands. In Nat Genet, 2013
The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56).
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.
Karayiorgou et al., New York City, United States. In Nat Genet, 2012
We found four genes (LAMA2, DPYD, TRRAP and VPS39) affected by recurrent de novo events within or across the two populations, which is unlikely to have occurred by chance.
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
Tekin et al., Seattle, United States. In Unknown Journal, 2012
CLINICAL CHARACTERISTICS: Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth).
Identification of cell adhesive sequences in the N-terminal region of the laminin α2 chain.
Nomizu et al., Hachiōji, Japan. In J Biol Chem, 2012
Identification of cell adhesive sequences in the N-terminal region of the laminin alpha2 chain.
LAMA2-Related Muscular Dystrophy
Rutkowski et al., Seattle, United States. In Unknown Journal, 2012
DIAGNOSIS/TESTING: Diagnosis of LAMA2 MD is based on: clinical findings; elevated serum CK concentration; specific abnormal white matter signal on T2-weighted MRI by age one year; complete or partial laminin α2 deficiency on immunohistochemical (IHC) staining of muscle and/or skin; and biallelic mutation of LAMA2, the gene encoding the laminin subunit alpha-2.
Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.
Toda et al., Kōbe, Japan. In J Biol Chem, 2012
-DG prepared from lung- or testis-derived cells lacks the post-phosphoryl moiety and shows little laminin a1 and a2 binding activity.
Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer.
An et al., Taejŏn, South Korea. In Int J Oncol, 2012
Aberrant methylation at target CpG sites in GABRA1 and LAMA2 was observed with high frequency in tumor tissues.
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
Pegoraro et al., Padova, Italy. In Muscle Nerve, 2011
This largest series of patients with limb-girdle muscular dystrophy due to laminin alpha2-deficiency expands the clinical phenotype associated with LAMA2 mutations.
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?
Marrosu et al., Cagliari, Italy. In Muscle Nerve, 2011
This is the first report to describe dilated cardiomyopathy with conduction defects and merosin deficiency in a patient carrying LAMA2 gene mutations.
The congenital muscular dystrophies: recent advances and molecular insights.
Martin et al., Columbus, United States. In Pediatr Dev Pathol, 2006
The diseases can be classified into 3 major groups based on the affected genes and the location of their expressed protein: abnormalities of extracellular matrix proteins (LAMA2, COL6A1, COL6A2, COL6A3), abnormalities of membrane receptors for the extracellular matrix (fukutin, POMGnT1, POMT1, POMT2, FKRP, LARGE, and ITGA7), and abnormal endoplasmic reticulum protein (SEPN1).
Analytical ultracentrifugation for the study of protein association and assembly.
Rivas et al., Melbourne, Australia. In Curr Opin Chem Biol, 2006
Improvements in global modeling based on numerical solutions of the Lamm equation have generated new sedimentation velocity applications with an emphasis on data interpretation using sedimentation coefficient or molar mass distributions.
Recent advances in intravesical drug/gene delivery.
Huang et al., Pittsburgh, United States. In Mol Pharm, 2006
(Lamm, D. L.; Griffith, J. G. Semin.
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.
Ruegg et al., Basel, Switzerland. In Nature, 2001
Most cases of congenital muscular dystrophy are caused by mutations in LAMA2, the gene encoding the alpha2 chain of the main laminin isoforms expressed by muscle fibres.
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
Tryggvason et al., Paris, France. In Nat Genet, 1995
The laminin alpha 2 chain gene (LAMA2) maps to the same region on chromosome 6q22-23 (ref.
Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene.
Engvall et al., Los Angeles, United States. In Nat Genet, 1994
We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2.
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