Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
about
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresiaCloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosaDigenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosomeCompound 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 collagenThree novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosaHemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunitShedding of collagen XVII ectodomain depends on plasma membrane microenvironmentDemonstration of the molecular shape of BP180, a 180-kDa bullous pemphigoid antigen and its potential for trimer formationTwo forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomainE210K 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 sequencesExtracellular phosphorylation of collagen XVII by ecto-casein kinase 2 inhibits ectodomain sheddingCollagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15Esophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zoneBeta4 integrin is required for hemidesmosome formation, cell adhesion and cell survivalCo-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cellsRevertant mosaicism in skin: natural gene therapyRevertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutationMultiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.Type VII and XVII Collagen mRNA Expressions in Regenerated Epidermal Laminae in Chronic Equine Laminitis.Molecular pathology of the cutaneous basement membrane zone.The eye in epidermolysis bullosaGene therapy and dermatology: more than just skin deep.Laminins and human disease.Collagen XVII and BPAG1 expression in the retina: evidence for an anchoring complex in the central nervous system.Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.Cutaneous gene transfer and therapy: the present and the future.Bullous pemphigoid: end of the century overview.Expression of type XXIII collagen mRNA and protein.New laboratory techniques for the assessment of acquired immunobullous disorders.The Roles of ADAMs Family Proteinases in Skin DiseasesMultiple hits during early embryonic development: digenic diseases and holoprosencephalyType XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.Keratinocytes from patients lacking collagen XVII display a migratory phenotypeEpidermolysis bullosa: directions for future research and new challenges for treatment.Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partnerWhole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa
P2860
Q24310172-A137FE21-0FED-4CCE-BB11-FF8C3D3B20F5Q24315966-CF583CDB-B353-4522-97EC-A86552AB7EA5Q24534377-8C8485C8-8A30-426B-BEC1-C53FDDEF363FQ24548194-3650E533-AEE6-443E-93C8-4920C3187169Q24675846-5E3E062D-F390-4A61-B5B6-95E8DEA557E4Q24676762-5C0A263D-DC53-480C-BBD1-7AE2D1483934Q24676917-52DD369C-BF64-4894-8A36-097577A884D9Q24682604-1EE73A67-C79D-4BDE-8A86-E6463E995D6BQ24683842-AA1B4EA5-9FBE-44F5-9842-D3B03C72474BQ28261785-AF12DA8B-F3F6-4633-8D24-97AE183F30B7Q28281786-368A6753-F740-4D7A-B2F2-489E829D478BQ28283395-2514C258-B406-4ED9-9D7F-0C32D11244A4Q28285044-26DD731E-8727-4F93-9047-7FBFF2D4BFA5Q28302021-934E0DF8-7567-4CB5-87D2-62A3FDF5D7A3Q28304833-6CDDDBD6-3101-440B-BA90-4D8E718CC7E0Q28369420-DA7F5673-C072-4219-9CA5-4E2CC6D866BAQ28585359-A37116C3-749A-45DD-84A3-3AB7DC8A5568Q28592841-5B795DD4-6039-42DF-9604-18699E409490Q28593769-3ECCD378-C23B-4B88-8604-E6F03CEC8293Q28741264-D7C4FB16-2F9C-4F71-85FA-67C859F6BB02Q30630015-550BD480-FBA4-4FD9-A1F2-EE370DCB17A2Q33226033-735942E6-02C9-419C-9FC0-2730748FA44DQ33581760-87799F8F-A970-4BB5-9F3D-BC8C1B568A46Q33610960-4702E370-0D5B-49A7-BD2F-D1BAC5CC6FA8Q33655319-AB6D2AD9-9446-4453-83D2-F9A33E646680Q33669657-FA00E1C1-1F8B-4799-B3B8-628EA6830E8DQ34071975-31E51CA0-149E-49E3-B54A-FB2D314E72EFQ34079188-E5038A1F-5328-432F-A339-4820AD20036EQ34184714-EBF5E106-2B1B-4253-A674-4E60E505C051Q34195600-19FC18A2-51D1-4B8A-A5D3-8181C01C46F2Q34480487-A6C35A4F-745E-4AEC-8BFE-58B69C222ACCQ34530822-BB22A621-E5E9-4329-96FF-9E8C2BBE743BQ34600576-A049F951-03D6-48E3-B94A-0657D0D3CD81Q34669802-2C8A4048-E0A9-42DC-BDB1-D7FDB944517DQ34978312-F16EE025-2AA0-497F-876B-95C46DA249A4Q35056805-D3835732-63FE-4678-B151-E303CA2DA28FQ35098451-FA5D9641-396B-4224-8CE1-2799B1035FA6Q35099773-E61387AD-B9E5-40F0-9582-409FB2A73CE1Q35168077-7FB92957-C6AA-471B-A21E-31D7AE44E5F1Q35562483-21B187D2-649C-4B54-9738-650FCE53BDCC
P2860
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
description
1995 nî lūn-bûn
@nan
1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@ast
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@en
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@en-gb
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@nl
type
label
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@ast
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@en
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@en-gb
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@nl
prefLabel
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@ast
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@en
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@en-gb
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@nl
P2093
P2860
P921
P3181
P356
P1433
P1476
Mutations in the 180-kD bullou ...... c benign epidermolysis bullosa
@en
P2093
A M Christiano
B Gatalica
J A McGrath
J R McMillan
P2860
P2888
P3181
P356
10.1038/NG0995-83
P407
P577
1995-09-01T00:00:00Z
P5875
P6179
1021430809