Mutation analysis and molecular genetics of epidermolysis bullosa.
about
BPAG1e maintains keratinocyte polarity through beta4 integrin-mediated modulation of Rac1 and cofilin activitiesMutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhereGenomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIaA compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiencyThe anatomical distribution of genetic associations.Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlationsProgress in epidermolysis bullosa: the phenotypic spectrum of plectin mutationsMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaInsight into interactions of the von-Willebrand-factor-A-like domain 2 with the FNIII-like domain 9 of collagen VII by NMR and SPRTyrosine phosphorylation of the beta 4 integrin cytoplasmic domain mediates Shc signaling to extracellular signal-regulated kinase and antagonizes formation of hemidesmosomes.Opposite Smad and chicken ovalbumin upstream promoter transcription factor inputs in the regulation of the collagen VII gene promoter by transforming growth factor-beta.Integrins as Therapeutic Targets for Respiratory DiseasesIdentification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosaDefining the role of laminin-332 in carcinoma.Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1.Collagens: building blocks at the end of the development line.Integrin alpha 7 interacts with high temperature requirement A2 (HtrA2) to induce prostate cancer cell death.Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.Cutaneous gene transfer and therapy: the present and the future.Collagens and collagen-related diseases.Epidermolysis bullosa: a series of 12 patients in kashmir valley.Bone marrow transplantation for recessive dystrophic epidermolysis bullosaKeratinocyte-targeted expression of human laminin γ2 rescues skin blistering and early lethality of laminin γ2 deficient mice.Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 geneEpidermolysis bullosa: directions for future research and new challenges for treatment.Integrins in regulation of tissue development and function.Integrin-dependent pathologies.Dystrophic epidermolysis bullosa.Novel ITGB6 mutation in autosomal recessive amelogenesis imperfectaOro-dental manifestations in Hallopeau-Siemens-type recessive dystrophic epidermolysis bullosa.Positioning the immune system: unexpected roles for alpha6-integrins.Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)A novel laminin β gene BmLanB1-w regulates wing-specific cell adhesion in silkworm, Bombyx mori.Phosphorylation of threonine 1736 in the C-terminal tail of integrin β4 contributes to hemidesmosome disassembly.Palmitoylation by DHHC3 is critical for the function, expression, and stability of integrin α6β4Laminins and their receptors in Schwann cells and hereditary neuropathies.
P2860
Q24320148-3BD3C070-095D-4C62-87C7-D2E2105C1BE2Q24532794-1296F042-7001-424A-9815-F4D4C6E10AF7Q24534377-9D5F4AB2-78FE-42DB-87CF-B79858188DD2Q24537227-C8724AF3-FEC1-48AA-B562-82FE19F85E6DQ24539119-57F2C282-B5FD-43B3-BF5D-E72F27341E02Q24685930-7E9AC6C1-5643-4957-A987-7103B38BAEF0Q27325381-58E307D3-EC17-42D4-B1FE-6CA554F17284Q28186379-F16AA852-CBEE-4428-B3D4-EAEE2F0C0990Q28243587-ED14371A-2587-4885-A5ED-16D243F4EF67Q28284115-94605028-4DF6-4057-A35A-92DDDBB249DAQ28508123-4159C016-29E9-4D63-901B-BED2616EC301Q31485514-FAD301BC-B343-452E-BF84-DE7ACAC688D6Q33200353-03064CE5-E066-48E5-A672-E907A1A43694Q33668635-1EBFEC81-FF90-4785-B645-59E91AA73B4DQ33675091-129A404B-0A36-4E6A-83AE-758266869B33Q33712943-6D7A4EAF-C083-4098-B641-70AD2B1C325FQ33813881-B736B96C-732D-4585-BAB7-423AE8453819Q33875126-2CD289F9-6F8E-480B-AD8B-81DAAB93A51BQ34067573-0FEF1C4D-B424-46F1-BF47-9A860424C042Q34081507-6A41B935-D15D-4523-92C1-F85CA5CA1B0BQ34086887-C9370700-0141-4C26-B5D0-E4BDD3637B45Q34184714-AC0DFB9F-3641-4814-8021-A609B34BE699Q34195600-5BD826B8-B99B-45F1-9008-68F0C294A9E2Q34224267-49F3E458-8474-402E-B284-9538EBE0A639Q34250347-7E522093-4102-463D-8371-C3D4CFCF3606Q34256616-5F8A598E-AF0B-4456-9FD1-021B6AA35869Q34429347-7BCD7D42-0D22-44FF-94CC-AE8D6988B312Q35083456-60CDC20A-5F9A-4770-9350-F231A3419AF4Q35099773-B0B72A1D-0F8E-4B3A-8274-137100744B68Q35170439-903A0636-3B28-410A-9649-414936DD66F4Q35170443-496E4A9C-B884-4898-A72D-73EAB783A499Q35630799-4A70464F-51A3-47ED-9BFA-69B009DD7BA8Q35633185-9CD57AEA-7767-496F-BFC1-F6E0AB6B39C0Q35677018-65827FC1-B3A9-41DD-A0BF-4862EDCDCB70Q35729226-A467FA1C-56BB-4DD0-B022-3EA2CE95586BQ35789863-96A4F5E7-FC12-4EA8-A8D2-040E829D9715Q35891192-04435497-9A75-448D-85F0-30EA6ACD080BQ35891231-DFDF1376-0C2F-43C0-86DA-56767749F303Q36120647-84E0295B-1449-48EB-A76D-57ABF92FB11BQ36164129-8D29E4F1-3288-42C4-955D-0BD1F1F2DD24
P2860
Mutation analysis and molecular genetics of epidermolysis bullosa.
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutation analysis and molecular genetics of epidermolysis bullosa.
@ast
Mutation analysis and molecular genetics of epidermolysis bullosa.
@en
type
label
Mutation analysis and molecular genetics of epidermolysis bullosa.
@ast
Mutation analysis and molecular genetics of epidermolysis bullosa.
@en
prefLabel
Mutation analysis and molecular genetics of epidermolysis bullosa.
@ast
Mutation analysis and molecular genetics of epidermolysis bullosa.
@en
P1433
P1476
Mutation analysis and molecular genetics of epidermolysis bullosa.
@en
P2093
P356
10.1016/S0945-053X(98)00005-5
P577
1999-02-01T00:00:00Z