Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa☆
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Cited by (52)
The Molecular Revolution in Cutaneous Biology: Identification of Skin Disease Genes
2017, Journal of Investigative DermatologyCitation Excerpt :COL7A1 markers were subsequently used to map the recessive form of dystrophic epidermolysis bullosa to the same locus (Hovnanian et al., 1992), and causative mutations in COL7A1 for recessive (Christiano et al., 1993) and dominant (Christiano et al., 1994) dystrophic epidermolysis bullosa were published in the following 2 years. Only a few months later, and with the same candidate gene approach and rapid pace that surprisingly put pathogenesis reports ahead of those describing a gene’s cloning and characterization, recessive junctional epidermolysis bullosa was found to be caused by mutations in the genes encoding the three subunit polypeptides of laminin-5 (LAMA3 [Kivirikko et al., 1995], LAMB3 [Pulkkinen et al., 1994b, 1995], and LAMC2 [Aberdam et al., 1994; Pulkkinen et al., 1994a]) and the collagen gene COL17A1 (McGrath et al., 1995). Mutations in LAMB3 account for most junctional epidermolysis bullosa cases, because of the prevalence of two nonsense mutations that arise recurrently within mutational hotspots (Kivirikko et al., 1996).
Dynamic interactions of epidermal collagen XVII with the extracellular matrix: Laminin 332 as a major binding partner
2011, American Journal of PathologyCitation Excerpt :Skin biopsy specimens were obtained from healthy volunteers and from a female neonate with laminin 332–negative Herlitz junctional epidermolysis bullosa after informed consent was provided. The genetic and phenotypic features of patients with Herlitz junctional epidermolysis bullosa have been described elsewhere.21 This study was approved by the Ethical Committee of the University of Freiburg.
Defining the role of laminin-332 in carcinoma
2009, Matrix BiologyEssential and overlapping roles for laminin α chains in notochord and blood vessel formation
2006, Developmental BiologyDetection of laminin 5-specific auto-antibodies in mucous membrane and bullous pemphigoid sera by ELISA
2005, Journal of Investigative DermatologyLaminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa
2004, Journal of Investigative DermatologyCitation Excerpt :Long-range RT-PCR and/or Southern blot analyses may be helpful in identifying these types of genetic lesion, although they were unsuccessful when applied in patients 1 and 12. Furthermore, mutations in regulatory sequences not included in the routine screening of the LAMB3 gene and localized upstream from the first coding exon may also result in low or absent expression of the involved allele (Pulkkinen et al, 1995a). In conclusion, our study expands the repertoire of laminin-5 mutated alleles associated to JEB, discloses mutations confined to the Italian genetic background and contributes to a better understanding of the physiologic functions of laminin-5 that may be useful in predicting mutation consequences in JEB patients.
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This study was supported by USPHS/NIH Grants P01-AR38923 and T32-07561 and by the Dermatology Foundation. Sequence data from this article have been deposited in GenBank under Accession Nos. U17744–U17760.