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Laminin, beta 3

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CsF, LOCS, CAN, HAD, POLYMERASE
Papers on LAMB3
Genome-wide association study identifies candidate loci associated with postoperative fentanyl requirements after laparoscopic-assisted colectomy.
Hayashida et al., Saitama, Japan. In Pharmacogenomics, Jan 2016
RESULTS: A nonsynonymous SNP in the LAMB3 gene region, rs2076222, was strongly associated with postoperative opioid requirements.
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.
Telang et al., Boston, United States. In J Cutan Pathol, Aug 2015
Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by a split in the lamina lucida usually because of mutations in LAMA3, LAMB3 and LAMC2 resulting in absence or reduction of laminin-332.
[DNA methylation in the promoter regions of the laminin family genes in normal and breast carcinoma tissues].
Strelnikov et al., Moscow, Russia. In Mol Biol (mosk), Jul 2015
Genes, constitutively methylated in breast tissues include LAMA3A, LAMB2, LAMB3, and LAMC2.
High Diagnostic Accuracy Based on CLDN10, HMGA2, and LAMB3 Transcripts in Papillary Thyroid Carcinoma.
Kowalski et al., São Paulo, Brazil. In J Clin Endocrinol Metab, Jun 2015
An algorithm combining CLDN10, HMGA2, and LAMB3 transcripts was able to discriminate tumors from BTL samples (94% sensitivity and 96% specificity in validation set).
Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.
Qin et al., Beijing, China. In Plos One, 2014
Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases.
The role of components of the extracellular matrix and inflammation on oral squamous cell carcinoma metastasis.
Cakmakoglu et al., İstanbul, Turkey. In Arch Oral Biol, 2014
Consequently, we found statistically relevant expression results on extracellular matrix members on MMPs such as MMP3, MMP10, MMP1 and MMP9; on laminin such as LAMC2, LAMA3 and LAMB3; several genes in the collagen family; and also on chemokines from the inflammation process.
The impact of pri-miR-218 rs11134527 on the risk and prognosis of patients with esophageal squamous cell carcinoma.
Yu et al., Taizhou, China. In Int J Clin Exp Pathol, 2013
The aim of this study was to investigate whether polymorphisms in miR-218 LAMB3 pathway were associated with the risk and prognosis of esophageal squamous cell carcinoma (ESCC).
Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort.
Hoffjan et al., Bochum, Germany. In Bmc Dermatol, 2013
Laminin 5, playing an important role in skin integrity, is composed of three subunits encoded by the LAMA3, LAMB3 and LAMC2 genes in which biallelic mutations cause epidermolysis bullosa junctionalis.
Laminin 332 in junctional epidermolysis bullosa.
Bruckner-Tuderman et al., Freiburg, Germany. In Cell Adh Migr, 2013
Mutations in the LAMA3, LAMB3 and LAMC2 genes that encode the three constituent polypeptide chains, α3, β3 and γ2, abrogate or perturb the functions of laminin 332.
Polymerized laminin-332 matrix supports rapid and tight adhesion of keratinocytes, suppressing cell migration.
Miyazaki et al., Yokohama, Japan. In Plos One, 2011
Data show laminin-332 (alpha3ss3gamma2)(Lm332) matrix supported adhesion of keratinocytes much more strongly and stably than purified Lm332.
Aberrant up-regulation of LAMB3 and LAMC2 by promoter demethylation in gastric cancer.
Kim et al., Taejŏn, South Korea. In Biochem Biophys Res Commun, 2011
These results suggest that epigenetic activation of LAMB3 and LAMC2 may play an important role in gastric carcinogenesis.
Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.
Giudice et al., Milwaukee, United States. In Matrix Biol, 2011
Cell surface COL17 can interact with laminin 332 and, together, participate in the adherence of a cell to the extracellular matrix.
Polymorphisms involved in the miR-218-LAMB3 pathway and susceptibility of cervical cancer, a case-control study in Chinese women.
Hu et al., Nanjing, China. In Gynecol Oncol, 2010
The LAMB3 rs2566 variant CT/TT genotypes were associated with a significantly increased risk of cervical cancer, compared with the wild type CC genotype.
Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.
Gu et al., Sendai, Japan. In J Biol Chem, 2010
Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.
Herlitz junctional epidermolysis bullosa.
Bauer et al., Salzburg, Austria. In Dermatol Clin, 2010
Characterized by generalized, extensive mucocutaneous blistering at birth and early lethality, this devastating condition is most often caused by homozygous null mutations in the genes LAMA3, LAMB3, or LAMC2, each encoding for 1 of the 3 chains of the heterotrimer laminin-332.
Junctional Epidermolysis Bullosa
Lucky et al., Seattle, United States. In Unknown Journal, 2008
The four genes in which mutations are known to cause JEB are LAMB3 (70% of all JEB), COL17A1 (12%), LAMC2 (9%), and LAMA3 (9%).
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.
De Luca et al., Modena, Italy. In Nat Med, 2006
Epidermal stem cells from an adult patient affected by LAM5-beta3-deficient JEB were transduced with a retroviral vector expressing LAMB3 cDNA (encoding LAM5-beta3), and used to prepare genetically corrected cultured epidermal grafts.
Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature.
Garbe et al., Tübingen, Germany. In Eur J Pediatr, 2002
Markedly reduced staining for laminin 5 indicated the Herlitz type of JEB (OMIM 226700), which could be confirmed by mutation analysis in the LAMB3 gene, showing homozygous nonsense mutations.
Mutation analysis and molecular genetics of epidermolysis bullosa.
Uitto et al., Philadelphia, United States. In Matrix Biol, 1999
These include mutations in the type VII collagen gene (COL7A1) in the dystrophic (severely scarring) forms of EB; mutations in the laminin 5 genes (LAMA3, LAMB3 and LAMC2) in a lethal (Herlitz) variant of junctional EB; aberrations in the type XVII collagen gene (COL17A1) in non-lethal forms of junctional EB; mutations in the alpha6 and beta4 integrin genes in a distinct hemidesmosomal variant of EB with congenital pyloric atresia; and mutations in the plectin gene (PLEC1) in a form of EB associated with late-onset muscular dystrophy.
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
Uitto et al., Philadelphia, United States. In Nat Genet, 1995
Previously, in different JEB phenotypes, mutations have been found in the three genes for the anchoring filament component laminin 5 (LAMA3, LAMB3, and LAMC2) and in the gene for the hemidesmosome-associated integrin beta 4 subunit.
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