Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

Item
http://www.wikidata.org/entity/Q34592857
Kindlin-1 regulates integrin dynamics and adhesion turnoverLoss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.Emergence and subsequent functional specialization of kindlins during evolution of cell adhesiveness.Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease.A molecular mechanism for the requirement of PAT-4 (integrin-linked kinase (ILK)) for the localization of UNC-112 (Kindlin) to integrin adhesion sites.A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.Localization and potential function of kindlin-1 in periodontal tissues.Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.The role of monogenic disease in children with very early onset inflammatory bowel disease.Genetic susceptibility in IBD: overlap between ulcerative colitis and Crohn's disease.Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis.KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage.Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm.
P2860

Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

Item
http://www.wikidata.org/entity/Q34592857
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@ast
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@en
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@nl
type
label
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@ast
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@en
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@nl
prefLabel
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@ast
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@en
Novel KIND1 gene mutation in K ...... ointestinal tract involvement.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Novel KIND1 gene mutation in K ...... rointestinal tract involvement
@en
P2093
P304
P31
P356
10.1001/ARCHDERM.142.12.1619
P433
P478
P50
P577
P5875
P698