Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
about
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
Q27316898-84BE0EB3-C399-497B-8B59-E2BB5B85CF18Q33389852-C0639A2F-AC01-4E47-8D75-F42D2E4E0B09Q35077054-2C63BC84-1D37-4AFB-9CB9-B373A4186EC0Q36071413-A11E71F3-0B52-42A0-BC25-A6BDE5A2138BQ36217172-56EC8FCE-AB96-4EDC-BE76-E6A016CEA599Q36274598-46A1DB1C-6A03-4B7C-A33A-EB339F90A2C4Q37362050-D7A24C5B-AF13-45E9-A8D2-CDE6F77F2407Q37424498-E92129B3-D01B-4265-A3F4-C206C55D43DBQ37936391-5F541861-85B2-4EC2-A682-DA4D1D1B8E89Q39430706-E7C3EC3D-5282-4FA0-B09F-AE7E21E2A0BEQ45159389-33F8943C-937B-4462-A51D-19119ACE6A5AQ47947053-73180B3D-17A1-433F-80F3-3BC39B9F6E9FQ50283025-C50DC914-C5EF-46E1-9282-B60936E1C0B7Q53643432-62C8A132-C60C-4113-A00A-858090B47E87
P2860
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
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
P2093
P1433
P1476
Novel KIND1 gene mutation in K ...... rointestinal tract involvement
@en
P2093
Alfred Klausegger
Christoph Lanschuetzer
Elke Sadler
Gabriele Pohla-Gubo
Helmut Hintner
Johann W Bauer
Martin Laimer
Ursula Deinsberger
P304
P356
10.1001/ARCHDERM.142.12.1619
P577
2006-12-01T00:00:00Z