Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. (wikipedia.org)
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (medscape.com)
Early-onset LAMA2 -related muscular dystrophy is apparent at birth or within the first few months of life. (medlineplus.gov)
Children with early-onset LAMA2 -related muscular dystrophy often do not develop the ability to walk. (medlineplus.gov)
Symptoms of late-onset LAMA2 -related muscular dystrophy become evident later in childhood or adulthood, and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. (medlineplus.gov)
In late-onset LAMA2 -related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. (medlineplus.gov)
Children with late-onset LAMA2 -related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. (medlineplus.gov)
The prevalence of LAMA2 -related muscular dystrophy is estimated at between 1 in 50,000 and 1 in 400,000 individuals worldwide. (medlineplus.gov)
As its name suggests, LAMA2 -related muscular dystrophy is caused by mutations in the LAMA2 gene. (medlineplus.gov)
Most LAMA2 gene mutations that cause the severe, early-onset form of LAMA2 -related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. (medlineplus.gov)
Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2 -related muscular dystrophy. (medlineplus.gov)
The Biozentrum spin-off develops an innovative gene therapy to treat congenital muscular dystrophy. (unibas.ch)
SEAL Therapeutics focuses on LAMA2-related muscular dystrophy ( LAMA2 MD ), a severe form of muscular dystrophy caused by the absence of laminin-alpha 2 in the muscle fibers. (unibas.ch)
MDC1A is sometimes referred to as LAMA2-related muscular dystrophy. (ricoverhoeven.com)
Congenital muscular dystrophy (CMD) with merosin deficiency (MDC1A) is an autosomal recessive disorder due to mutations in the laminin alpha-2 gene (LAMA2). (fsrmm.ch)
Mutations of the LAMA2 gene are the most common cause of congenital muscular dystrophy that frequently leads to death in early childhood (Domogatskaya, 2012). (biolamina.com)
Histopathology may show general signs of muscular dystrophy and endomysial fibrosis, and immunofluorescent staining for alpha 2 laminin will show an absence of staining. (wisdompanel.com)
LAMA2 nonsense variant in an Italian Greyhound with congenital muscular dystrophy. (wisdompanel.com)
Deficiency3
Cardiac complications are especially common in patients with a mutation in FKRP and occasionally in patients with laminin-α2 deficiency. (medscape.com)
Mutations that cause the milder, later-onset form usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. (medlineplus.gov)
Available data demonstrate that the simultaneous expression of two types of specifically designed linker proteins functionally corrects the underlying cause of laminin-alpha 2 deficiency, leads to sustained improvement in muscle histology, increased muscle mass and strength, improved body weight, and results in a remarkable increase in life span compared to untreated animals (see literature ). (unibas.ch)
Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). (medlineplus.gov)
The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers. (medlineplus.gov)
Laminins plays a major role in binding itself and other proteins together not only in the extracellular matrix but also to the muscle cell membrane. (cmdir.org)
Analysis by RNA sequencing revealed altered expression of genes associated with extracellular matrix remodeling, endo-lysosomal processing, and mitochondrial energy metabolism under pathophysiological flow conditions. (biomedcentral.com)
MECs synthesize key extracellular matrix (ECM) proteins of the meninges such as various collagens, as well as fibronectin, laminin and tenascin, important for pia basal lamina integrity and thus for neuronal support and function [ 7 ]. (biomedcentral.com)
Subunit4
Laminin subunit alpha-2 is a protein that in humans is encoded by the LAMA2 gene. (wikipedia.org)
This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. (medlineplus.gov)
There are several forms of each subunit, and each form is produced from instructions carried by a different gene. (medlineplus.gov)
The LAMA2 gene provides instructions for the alpha-2 subunit. (medlineplus.gov)
Collagen1
BMs are specialized structures that underlie epithelia and surround organs and mainly comprise collagen IV, laminins, and heparan sulfate proteoglycans (HSPG). (nature.com)
Defects3
This innovative gene therapy approach developed by Prof. Markus Rüegg and his team and with international collaborators overcomes the functional defects causing LAMA2 MD. The approach of SEAL Therapeutics involves delivering specifically designed linker proteins that compensate for the missing laminin-alpha 2 in the muscle fibers (see SEAL technology ). (unibas.ch)
A CMD Subtype that results from gene defects in the laminin-alpha2 gene affecting the production of merosin protein in the muscle cell. (cmdir.org)
A CMD Subtype that results from gene defects in the lamin A/C (LMNA) gene affectings production of lamin A and lamin C prteins within the nucleus of cells. (cmdir.org)
Proteins4
Two transcript variants encoding different proteins have been found for this gene. (wikipedia.org)
Laminin proteins are made of three different subunits called alpha, beta, and gamma. (medlineplus.gov)
Moreover, integrins, laminins, NF-κB and other regulative molecules were found as crucial proteins. (nature.com)
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. (utsouthwestern.edu)
Isoforms2
Laminin 221 is important for muscle development and function and is together with laminin 211 one of the main laminin isoforms present in adult muscle tissue, including varying amounts of laminin 521 and laminin 421 depending on the tissue. (biolamina.com)
We further found that the pericytic laminin isoforms differentially regulate mouse β-cells. (nature.com)
Phenotype2
WES revealed a novel, homozygote 10-bp deletion in the donor splice site of 2nd exon of METTL5 gene (NM_014168:c.223_224?8del), which was found segregating with the phenotype in the pedigree. (bvsalud.org)
PHENOTYPE: Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission. (utsouthwestern.edu)
MDC1A1
MDC1A is caused by a defect in the LAMA2 gene which is responsible for the production of laminin a2 protein (previously called merosin). (ricoverhoeven.com)
Functional1
The human genome encodes 54 functional keratin genes , located in two clusters on chromosomes 12 and 17. (wikipedia.org)
Encodes1
This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). (wikipedia.org)
Skeletal2
Laminin 2 and laminin 4 play a particularly important role in the skeletal muscles. (medlineplus.gov)
For a review of α2-laminin in skeletal muscle function, see Holmberg and Durbeej, 2012. (biolamina.com)
Expression5
Gene expression analysis indicated that the expression levels of the CASP3, CASP9, and BAX genes were elevated after treating MCF-7 and HT-29 cells with LC-SNPs. (bvsalud.org)
Whereas α2 laminins promoted islet cell clustering, they did not affect gene expression. (nature.com)
In contrast, culturing on Laminin-421 induced the expression of β-cell genes, including Ins1 , MafA , and Glut2 , and significantly improved glucose-stimulated insulin secretion. (nature.com)
This gene and its expression are frequently disrupted in patients with multiple myeloma. (utsouthwestern.edu)
Weight discount plan Modifies Pioglitazone's Have an impact on on Hepatic PPAR γ-Regulated Mitochondrial Gene Expression Pioglitazone (Pio) is a thiazolidinedione (TZD) insulin-sensitizing drug whose outcomes end end result predominantly from its modulation of the transcriptional practice of peroxisome proliferator-activated-receptor-gamma (PPARγ). (scalegen.com)
Fibrosis1
A commonly prescribed FDA-approved medication (an angiotensin II receptor antagonist) for hypertension which demonstrated clinical improvement and amelioration of fibrosis in the LAMA2-CMD mouse model. (cmdir.org)
Chain2
Laminins containing the α2-chain (such as laminin 221) are expressed in the ventricular zone ECM in the developing mouse central nervous system. (biolamina.com)
This suggests that they originated from a series of gene duplications on these chromosomes. (wikipedia.org)
Clinical1
The research team continues to develop their treatment approach and aims to team-up with partners in the pharmaceutical industry for clinical development with LAMA2 MD patients (see collaborations ). (unibas.ch)
Protein-protein inte1
Proteomic results were analyzed with gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and protein-protein interactions (PPI). (nature.com)
Homozygous1
Up to now, four pathogenic homozygous variants of the METTL5 gene have been reported that are associated with ID. (bvsalud.org)
Mouse1
FUNCTION: [Summary is not available for the mouse gene. (utsouthwestern.edu)
MUTANT1
This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. (genome.jp)
Form1
Mutations in this gene may be associated with a form of autism. (utsouthwestern.edu)
Patients2
There is currently no specific treatment for patients with LAMA2 MD. (unibas.ch)
SEAL Therapeutics was founded to make this innovative gene therapy available to LAMA2 MD patients and to improve their quality of life. (unibas.ch)
Stability1
Laminins help to maintain muscle fiber stability. (cmdir.org)
List1
Not particularly helpful to dump a big list of KRT genes here. (wikipedia.org)
Muscle2
Cross-section through treated LAMA2 MD muscle with individual muscle fibers surrounded by laminin (green) and regenerated small muscle fibers (red). (unibas.ch)
Laminin 211 as well as laminin 221, are very important for cardiomyocytes and heart muscle development. (biolamina.com)
Source1
Using the source a bit more to explain what each gene and each zone of genes mean will be helpful, as we currently have no particular examples of a hair keratin. (wikipedia.org)
The laminin stock solution is long-term stable when stored at -20°C to -80°C. Please refer to the product-specific CoA for shelf life details. (biolamina.com)
Type1
Noen utvikler en spesiell type anfall med plutselig tap av muskeltonus utløst av taktil- eller hørselsstimulus (Stimulus Induced Drop Attacs/SIDA). (sjelden.no)
Stock2
2. Dilute the thawed laminin stock solution with 1xDPBS containing Ca2+ and Mg2+. (biolamina.com)
If desired, the laminin stock can be dispensed into working aliquots and stored at -20°C to -80°C. Thawed, undiluted laminin stock is stable for at least 3 months when stored at +2°C to +8°C under aseptic conditions. (biolamina.com)