A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
about
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaA homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresiaHuman amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachmentMutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesClinical assessment incorporating a personal genomeA preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionLaminin 5 binds the NC-1 domain of type VII collagenPolymerized laminin-332 matrix supports rapid and tight adhesion of keratinocytes, suppressing cell migrationIntegrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresiaStructural requirement of carboxyl-terminal globular domains of laminin alpha 3 chain for promotion of rapid cell adhesion and migration by laminin-5Structural organization of the human and mouse laminin beta2 chain genes, and alternative splicing at the 5' end of the human transcriptE210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaFibulin-2 binds to the short arms of laminin-5 and laminin-1 via conserved amino acid sequencesPrimary structure, developmental expression, and immunolocalization of the murine laminin alpha4 chainDeletion of the laminin alpha4 chain leads to impaired microvessel maturationBeta4 integrin is required for hemidesmosome formation, cell adhesion and cell survivalBisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.Molecular pathology of the cutaneous basement membrane zone.Paraneoplastic cicatricial pemphigoid.Defining the role of laminin-332 in carcinoma.Adhesion receptors in health and disease.Laminins: structure and genetic regulation.Laminins and human disease.The genetics of human skin disease.Keratinocyte-targeted expression of human laminin γ2 rescues skin blistering and early lethality of laminin γ2 deficient mice.Laminin-5 beta3A expression in LNCaP human prostate carcinoma cells increases cell migration and tumorigenicity.Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partnerMaternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosaIncreased risk of squamous cell carcinoma in junctional epidermolysis bullosa.Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chainTargeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.alpha3beta1 Integrin is required for normal development of the epidermal basement membrane.Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)Down-regulation of laminin-5 in breast carcinoma cells.Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.The laminin binding integrin alpha6beta1 in prostate cancer perineural invasion.Do cell junction protein mutations cause an airway phenotype in mice or humans?Diagnosing epidermolysis bullosa type and subtype in infancy using immunofluorescence microscopy: the Stanford experience.
P2860
Q24308020-1AEEEA5F-07EE-4AC5-8213-71A9E44D4B7FQ24310172-72C47966-8E0F-448A-8946-C69E43FDE559Q24322819-88CEB04A-8345-4DBC-96D1-11A979B2948AQ24323215-C7E95D2D-808C-4634-A650-E592BE9CA858Q24612653-08075E48-CF01-4A51-86D0-A4B4A5537854Q24629476-BC4AB6F0-1781-4B27-99C0-714934291259Q24675846-7F4105F7-89CE-4054-B131-EA346C7B17A6Q24676762-69D729FA-9AC1-402D-BAE4-A3818A6FBE70Q27304390-0504E6D9-544C-4752-A03F-B170607C7525Q28118736-C66F5480-61A6-4859-956B-97235F12C392Q28143843-68E11F91-A718-442F-9A46-AC3242512536Q28281633-31C7406D-2A58-4F0B-BF1F-2CA324C87509Q28285044-DA9AFFBB-72C7-4923-86C5-B773E971B777Q28302021-42A47332-0D71-461B-A157-5B396BBE33B1Q28508382-4FA2CEA9-C875-4A94-8683-9870494BBF0BQ28589136-EF2B5C31-161B-4178-80C8-EE90ACC611BEQ28592841-EA41EC6A-2DF2-4929-AE25-F204AFCF7820Q30493173-49817440-CA1C-4E2B-A00E-DFE71B446855Q33610960-7CCD81ED-C4BE-4773-96BA-72FAAAA7C06AQ33693971-3E167C40-0F00-47B1-A6D7-4AE291364298Q33875126-9470A34D-3D6D-4BC8-B2B1-93EF41F196A6Q33888277-48A9B2F7-8823-4371-93DE-D38358B20DFCQ34071960-4D86CE10-6BD8-4746-AA51-E43BE88A6148Q34071975-163F6134-8865-4061-AF18-856548C243F7Q34355367-4212C250-40D8-4393-B05A-44A064AC875EQ34429347-E210D0F1-DFEE-4C60-A75F-7F50AD0FE4D5Q34928301-676C3E54-1C4F-461C-985E-C0F4DEE2AE8CQ35168077-9CB756C0-542E-4815-A8C0-1FFB66AE43D2Q35249537-692C3150-490F-42A5-9306-79E9E775A2A8Q35868532-1E6A4881-38B9-4CA9-83FD-2BFC7D72E5E7Q36255943-68FB2F1A-144A-45F5-A73D-E88ED282A426Q36256553-46DB071F-7456-4338-A49F-9504D42A170DQ36274145-DAF7905F-1D84-4012-A16E-50F2FF36040CQ36400620-D3A23BBD-5DA5-43E2-B552-B04B19DDA775Q36437677-F0547DAA-3237-4836-AFDD-81C26E3D3245Q36438250-5D1257D2-8289-4A88-8374-14A7207F39ECQ36930182-55E06E68-103E-4E28-B01C-440918BF781EQ37739999-1E11849C-6EB9-4A6D-A905-B6BEA4443DFAQ37836200-ECEDF8B7-580E-4D76-84A4-0450F4E2D543Q38086601-9A56B783-EB91-47E2-AED6-63CD3498E5CF
P2860
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
description
1994 nî lūn-bûn
@nan
1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@ast
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@en
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@nl
type
label
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@ast
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@en
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@nl
prefLabel
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@ast
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@en
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@nl
P2093
P356
P1433
P1476
A homozygous nonsense mutation ...... nctional epidermolysis bullosa
@en
P2093
A M Christiano
D W Wagman
L Pulkkinen
M R Pittelkow
R E Burgeson
P304
P356
10.1006/GENO.1994.1627
P407
P577
1994-11-15T00:00:00Z