Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility
about
Recently Identified Forms of Epidermolysis BullosaMonoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin FragilityRat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effectCALML5 is a ZNF750- and TINCR-induced protein that binds stratifin to regulate epidermal differentiation.Identification of Genetic and Epigenetic Variants Associated with Breast Cancer Prognosis by Integrative Bioinformatics Analysis.Rab27 effectors, pleiotropic regulators in secretory pathways.The long and winding road that leads to a cure for epidermolysis bullosa.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Next-generation sequencing applied to rare diseases genomics.Discovery in genetic skin disease: the impact of high throughput genetic technologiesA compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments.Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.Mutations in EXPH5 result in autosomal recessive inherited skin fragility.Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa.
P2860
Q26771524-D0E8B382-21AD-4328-AEC7-EB6698DF289EQ28975770-6CC2AC92-FB58-45A7-A4D3-7FB062A9E068Q34745503-2DB14FC6-14E4-429B-AC15-A3B977C2BC5BQ35834693-C3625E1D-7CC4-43A2-A060-3D6A61AA76D0Q37577093-9A0B8F41-CAE7-40BA-80E4-92275EE33017Q38107224-D5F74892-C2EB-435E-AB41-50937DEC80ACQ38119245-71F09D94-D47E-464A-B944-15CF6497CBF1Q38175288-9267A7FB-8C5A-4ABA-9EA2-D145355DB5C0Q38180485-2FF28FC1-806F-41A2-9455-68A91690A470Q38202142-DE1A2981-71B5-4A9E-A925-AD893D966598Q38237121-4F09F2D9-C6D4-4E90-9C7F-ABA2362C379AQ47152715-59D4342C-EC20-4216-B4AA-620B710A7097Q51073545-355E8869-497C-4218-A533-AC5CACCBD995Q51646144-4021B50E-E790-4754-BA57-668611EF85F4Q52647023-53B5B52A-0C6B-474F-AC47-C254C0017340Q53770761-87236192-538C-491F-8D75-B52F71A9000F
P2860
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@ast
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@en
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@en-gb
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@nl
type
label
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@ast
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@en
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@en-gb
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@nl
prefLabel
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@ast
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@en
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@en-gb
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@nl
P2093
P2860
P50
P1476
Germline Mutation in EXPH5 Imp ...... -b in Inherited Skin Fragility
@en
P2093
Andrew P South
Anna E Martinez
James R McMillan
Jemima E Mellerio
John A McGrath
Kristina L Stone
Patricia J Dopping-Hepenstal
Rumena Begum
W H Irwin McLean
P2860
P304
P356
10.1016/J.AJHG.2012.10.012
P407
P577
2012-12-07T00:00:00Z