Laminin, beta 3

Laminin, beta 3, also known as LAMB3, is a human gene.cite web | title = Entrez Gene: LAMB3 laminin, beta 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3914| accessdate = ]

PBB_Summary
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summary_text = LAMB3 encodes the beta 3 subunit of laminin. Laminin is composed of three subunits (alpha, beta, and gamma), and refers to a family of basement membrane proteins. For example, LAMB3 serves as the beta chain in laminin-5. Mutations in LAMB3 have been identified as the cause of various types of epidermolysis bullosa. Two alternatively spliced transcript variants encoding the same protein have been found for this gene.cite web | title = Entrez Gene: LAMB3 laminin, beta 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3914| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gerecke DR, Wagman DW, Champliaud MF, Burgeson RE |title=The complete primary structure for a novel laminin chain, the laminin B1k chain. |journal=J. Biol. Chem. |volume=269 |issue= 15 |pages= 11073–80 |year= 1994 |pmid= 7512558 |doi=
*cite journal | author=Pulkkinen L, McGrath JA, Christiano AM, Uitto J |title=Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). |journal=Hum. Mutat. |volume=6 |issue= 1 |pages= 77–84 |year= 1995 |pmid= 7550237 |doi= 10.1002/humu.1380060115
*cite journal | author=McGrath JA, Gatalica B, Christiano AM, "et al." |title=Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. |journal=Nat. Genet. |volume=11 |issue= 1 |pages= 83–6 |year= 1995 |pmid= 7550320 |doi= 10.1038/ng0995-83
*cite journal | author=Pulkkinen L, Christiano AM, Gerecke D, "et al." |title=A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. |journal=Genomics |volume=24 |issue= 2 |pages= 357–60 |year= 1995 |pmid= 7698759 |doi= 10.1006/geno.1994.1627
*cite journal | author=McGrath JA, Pulkkinen L, Christiano AM, "et al." |title=Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. |journal=J. Invest. Dermatol. |volume=104 |issue= 4 |pages= 467–74 |year= 1995 |pmid= 7706760 |doi=
*cite journal | author=Pulkkinen L, Gerecke DR, Christiano AM, "et al." |title=Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. |journal=Genomics |volume=25 |issue= 1 |pages= 192–8 |year= 1995 |pmid= 7774918 |doi=
*cite journal | author=Rousselle P, Golbik R, van der Rest M, Aumailley M |title=Structural requirement for cell adhesion to kalinin (laminin-5). |journal=J. Biol. Chem. |volume=270 |issue= 23 |pages= 13766–70 |year= 1995 |pmid= 7775432 |doi=
*cite journal | author=Vailly J, Szepetowski P, Mattei MG, "et al." |title=The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31. |journal=Genomics |volume=21 |issue= 1 |pages= 286–8 |year= 1994 |pmid= 8088808 |doi= 10.1006/geno.1994.1263
*cite journal | author=Morishima Y, Ariyama T, Yamanishi K, "et al." |title=Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization. |journal=Genomics |volume=28 |issue= 2 |pages= 273–9 |year= 1996 |pmid= 8530036 |doi= 10.1006/geno.1995.1141
*cite journal | author=Kivirikko S, McGrath JA, Pulkkinen L, "et al." |title=Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. |journal=Hum. Mol. Genet. |volume=5 |issue= 2 |pages= 231–7 |year= 1996 |pmid= 8824879 |doi=
*cite journal | author=Ashton GH, Mellerio JE, Dunnill MG, "et al." |title=A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. |journal=Br. J. Dermatol. |volume=136 |issue= 5 |pages= 674–7 |year= 1997 |pmid= 9205497 |doi=
*cite journal | author=Pulkkinen L, Meneguzzi G, McGrath JA, "et al." |title=Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. |journal=J. Invest. Dermatol. |volume=109 |issue= 2 |pages= 232–7 |year= 1997 |pmid= 9242513 |doi=
*cite journal | author=Takizawa Y, Shimizu H, Pulkkinen L, "et al." |title=Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. |journal=J. Invest. Dermatol. |volume=110 |issue= 2 |pages= 174–8 |year= 1998 |pmid= 9457915 |doi= 10.1046/j.1523-1747.1998.00105.x
*cite journal | author=Posteraro P, Sorvillo S, Gagnoux-Palacios L, "et al." |title=Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. |journal=Biochem. Biophys. Res. Commun. |volume=243 |issue= 3 |pages= 758–64 |year= 1998 |pmid= 9501007 |doi= 10.1006/bbrc.1998.8180
*cite journal | author=Takizawa Y, Pulkkinen L, Shimizu H, "et al." |title=Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. |journal=J. Invest. Dermatol. |volume=110 |issue= 5 |pages= 828–31 |year= 1998 |pmid= 9579554 |doi= 10.1046/j.1523-1747.1998.00186.x
*cite journal | author=Mellerio JE, Eady RA, Atherton DJ, "et al." |title=E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. |journal=Br. J. Dermatol. |volume=139 |issue= 2 |pages= 325–31 |year= 1999 |pmid= 9767254 |doi=
*cite journal | author=Aho S, Uitto J |title=Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1. |journal=Matrix Biol. |volume=17 |issue= 6 |pages= 401–12 |year= 1999 |pmid= 9840442 |doi=
*cite journal | author=Pulkkinen L, Uitto J |title=Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. |journal=J. Invest. Dermatol. |volume=111 |issue= 6 |pages= 1244–6 |year= 1999 |pmid= 9856855 |doi= 10.1046/j.1523-1747.1998.00399.x
*cite journal | author=Chen M, Marinkovich MP, Jones JC, "et al." |title=NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats. |journal=J. Invest. Dermatol. |volume=112 |issue= 2 |pages= 177–83 |year= 1999 |pmid= 9989793 |doi= 10.1046/j.1523-1747.1999.00491.x
*cite journal | author=Floeth M, Bruckner-Tuderman L |title=Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. |journal=Am. J. Hum. Genet. |volume=65 |issue= 6 |pages= 1530–7 |year= 2000 |pmid= 10577906 |doi=

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