IsoformsLama1Muscular dystrophyLama4ProteinDeficiencyCollagenFibronectinMerosinGeneRecombinantExtracellularHomoRegulateDifferentiationProteinsCardiomyocytesExpressionMouseCellDevelopmentRoleMerosinAlpha2MDC1AMutationsDeficiencyAutosomal recessiveExtracellular proteinMuscularLate-onsetDeficientSubunitsPrenatalSkeletalEmbryonicStem cellMolecularHumanCellsContribute
Isoforms4
- His group has produced most laminins as recombinant human proteins and recently the group has shown that different laminin isoforms influence stem cell growth and differentiation. (wikipedia.org)
- We further found that the pericytic laminin isoforms differentially regulate mouse β-cells. (nature.com)
- This suggests that other α chains, and hence other isoforms, act redundantly to laminin 1 in posterior notochord and ISV development. (johnshopkins.edu)
- 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)
Lama11
- In this study we show that bashful (bal) encodes laminin α1 (lama1). (johnshopkins.edu)
Muscular dystrophy2
- Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (medscape.com)
- 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)
Lama41
- We identified cDNA sequences for lama2, lama4 and lama5 and disrupted the expression of each alone or in mutant embryos also lacking laminin α1. (johnshopkins.edu)
Protein3
- LML2_CAEEL Laminin-like protein K08C7.3 pre. (nig.ac.jp)
- Moreover, live imaging of transgenic embryos expressing enhanced green fluorescent protein in forming ISVs reveals that the vascular defects in these embryos are due to an inability of ISV sprouts to migrate correctly along the intersegmental, normally laminin-rich regions. (johnshopkins.edu)
- Laminin, an extracellular protein, is a major component of the basement membrane. (utsouthwestern.edu)
Deficiency1
- Cardiac complications are especially common in patients with a mutation in FKRP and occasionally in patients with laminin-α2 deficiency. (medscape.com)
Collagen1
- BMs are specialized structures that underlie epithelia and surround organs and mainly comprise collagen IV, laminins, and heparan sulfate proteoglycans (HSPG). (nature.com)
Fibronectin1
- 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)
Merosin1
- This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). (utsouthwestern.edu)
Gene2
- Whereas α2 laminins promoted islet cell clustering, they did not affect gene expression. (nature.com)
- GF BM hmmbuild HMM.ann SEED.ann #=GF SM hmmsearch -E 1000 --cpu 4 -Z 75585367 HMM pfamseq #=GF TP Domain #=GF WK Laminin #=GF CL CL0202 #=GF RN [1] #=GF RM 1975589 #=GF RT Structure of the human laminin B1 chain gene. (genome.jp)
Recombinant1
- 1. Slowly thaw recombinant laminins at +4°C before use. (biolamina.com)
Extracellular1
- In the developing heart both laminin 211 and laminin 221 are expressed in the extracellular matrix of cardiomyocytes as well as in the basement membrane zones of the endo- and pericardium and the capillaries (Roediger, 2010). (biolamina.com)
Homo3
Regulate1
- 2013 ) Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina. (neurotree.org)
Differentiation2
- We previously reported that two zebrafish loci, grumpy (gup) and sleepy (sly), encode laminin β1 and γ1, which are important both for notochord differentiation and for proper intersegmental blood vessel (ISV) formation. (johnshopkins.edu)
- When expression of laminin α4 and laminin α1 are simultaneously disrupted, notochord differentiation and ISVs are as severely affected as sly or gup mutants. (johnshopkins.edu)
Proteins1
- Moreover, integrins, laminins, NF-κB and other regulative molecules were found as crucial proteins. (nature.com)
Cardiomyocytes2
- His group has developed fully human and chemically defined laminin-based methods for generation of stem cell derived cardiomyocytes, retina RPE and photoreceptors, keratinocytes and pancreatic islet cells. (wikipedia.org)
- Laminin 211 as well as laminin 221, are very important for cardiomyocytes and heart muscle development. (biolamina.com)
Expression2
- 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)
- 2022 ) Mural Wnt/β-catenin signaling regulates Lama2 expression to promote neurovascular unit maturation. (neurotree.org)
Mouse3
- LMA3_MOUSE Laminin alpha-3 chain precursor. (nig.ac.jp)
- 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)
- Description: A competitive ELISA for quantitative measurement of Mouse fibrinogen alpha chain(FGA) in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (resourcerecovery.be)
Cell1
- In 2008 he was the co-founder of BioLamina AB, a Swedish biotechnology company that produces laminins for cell therapy and research in cell biology. (wikipedia.org)
Development1
- Laminins are major constituents of basement membranes and have wide ranging functions during development and in the adult. (johnshopkins.edu)
Role1
- 2017 ) Laminin-Dependent Interaction between Astrocytes and Microglia: A Role in Retinal Angiogenesis. (neurotree.org)
Merosin8
- A subgroup displays a specific deficiency in a protein of the extracellular matrix, the alpha2 chain of laminin-2 (merosin). (nih.gov)
- Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. (nih.gov)
- This subunit, together with the beta-1 and gamma-1 subunits, forms the laminin 2 protein, also known as merosin or laminin-211. (medlineplus.gov)
- The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. (medlineplus.gov)
- The congenital MDs are autosomal conditions, which in their purest form are due predominately to a total or partial deficiency of the extracellular protein merosin (laminin alpha-2). (uspharmacist.com)
- Merosin-deficient congenital muscular dystrophy type-1A (MDC1A) is characterized by progressive muscular dystrophy and dysmyelinating neuropathy caused by mutations of the α2 chain of laminin-211, the predominant laminin isoform of muscles and nerves. (biomedcentral.com)
- MDC1A is caused by mutations in the LAMA2 gene, which encodes the α2 chain of laminin-211 (or merosin), the major component of the basement membrane of muscles and peripheral nerves [ 3 ]. (biomedcentral.com)
- This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). (nih.gov)
Alpha21
MDC1A4
- The clinical manifestations of LAMA2 muscular dystrophy ( LAMA2 -MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2 -MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. (nih.gov)
- The phenotypic spectrum of LAMA2 muscular dystrophy ( LAMA2 -MD) ranges from congenital muscular dystrophy type 1A (MDC1A) to LAMA2 -MD with onset ranging from early childhood to adulthood (referred to as late-onset LAMA2 -MD). (nih.gov)
- MAG reconnects orphan laminin-211 receptors to other laminin isoforms available in the extracellular matrix of MDC1A mice. (biomedcentral.com)
- MABs engineered to deliver MAG and injected in muscles of MDC1A mice showed amelioration of muscle histology, increased expression of laminin receptors in muscle, and attenuated deterioration of motor performances. (biomedcentral.com)
Mutations7
- Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families. (nih.gov)
- More than 100 LAMA2 gene mutations have been identified in individuals with LAMA2 -related muscular dystrophy, a disorder that causes weakness and wasting (atrophy) of skeletal muscles. (medlineplus.gov)
- Most LAMA2 gene mutations that cause early-onset LAMA2 -related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. (medlineplus.gov)
- Mutations that cause late-onset LAMA2 -related muscular dystrophy usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. (medlineplus.gov)
- Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (medscape.com)
- Caused by mutations in the LAMA2 gene coding for the alpha-2 laminin chain. (cdc.gov)
- LAMA2-congenital muscular dystrophy (LAMA2-CMD) is caused by mutations in the LAMA2 gene, encoding the ?2 chain of laminins 211/221, components of the extracellular matrix. (mdaconference.org)
Deficiency2
- 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)
- Cardiac complications are especially common in patients with a mutation in FKRP and occasionally in patients with laminin-α2 deficiency. (medscape.com)
Autosomal recessive1
- LAMA2 -MD is inherited in an autosomal recessive manner. (nih.gov)
Extracellular protein1
- Laminin, an extracellular protein, is a major component of the basement membrane. (nih.gov)
Muscular1
- The diagnosis of LAMA2 muscular dystrophy is established in a proband with suggestive findings and biallelic ( homozygous or compound heterozygous ) pathogenic variants in LAMA2 identified by molecular genetic testing . (nih.gov)
Late-onset1
- In late-onset LAMA2 -MD onset of manifestations range from early childhood to adulthood. (nih.gov)
Deficient4
- Moreover, we generated a Lama2-deficient C2C12 myoblast cell line to use as a parallel model. (mdaconference.org)
- Skeletal muscles from dyW-/- fetuses and Lama2-deficient C2C12 cells both showed changes in the expression of genes linked to cell cycle regulation and cell survival. (mdaconference.org)
- Furthermore, we found that Lama2-deficient C2C12 cells exhibit a decreased proliferation rate in vitro, possibly explained by cell cycle arrest at G1/G0 phase. (mdaconference.org)
- DNA damage can be a major consequence of oxidative stress in cells, and Lama2-deficient C2C12 cells show increased levels of DNA damage markers. (mdaconference.org)
Subunits2
- Laminin proteins are made of three different subunits called alpha, beta, and gamma. (medlineplus.gov)
- The alpha-2 subunit, along with the beta-2 and gamma-1 subunits, also forms another laminin called laminin 4, sometimes known as laminin-221. (medlineplus.gov)
Prenatal1
- Once the LAMA2 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal and preimplantation genetic testing are possible. (nih.gov)
Skeletal1
- Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). (medlineplus.gov)
Embryonic2
- Using the dyW mouse model for LAMA2-CMD, we have previously shown that LAMA2-CMD starts in utero between embryonic day 17.5 and 18.5 with a reduction in the pool of muscle stem cells (MuSCs)/myoblasts and impaired muscle growth. (mdaconference.org)
- Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. (nih.gov)
Stem cell1
- His group has developed fully human and chemically defined laminin-based methods for generation of stem cell derived cardiomyocytes, retina RPE and photoreceptors, keratinocytes and pancreatic islet cells. (wikipedia.org)
Molecular1
- Description: JTB Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 98 amino acids (31-105 a.a.) and having a molecular mass of 10.7kDa. (2sars.com)
Human1
- Description: Quantitativesandwich ELISA kit for measuring Human Tubulin beta-1 chain (TUBB1) in samples from serum, plasma, tissue homogenates, cell lysates. (scalegen.com)
Cells1
- There, the laminins help regulate cell growth, cell movement (motility), and the attachment of cells to one another (adhesion). (medlineplus.gov)
Contribute2
- These results are particularly important since they contribute for a better understanding of the first stages of LAMA2-CMD onset, which is essential to design therapies that specifically target the primary events underlying this incurable, and often lethal, disease. (mdaconference.org)
- Secreted molecules also contribute to the extracellular matrix (fibronectin, laminin, reelin). (frontiersin.org)