An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
about
sameAs
Inherited epidermolysis bullosaNaegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Laminin 332 in junctional epidermolysis bullosaKeratin disorders: from gene to therapyA post-classical theory of enamel biomineralization… and why we need oneLaminin 332 processing impacts cellular behaviorCell proliferation and apoptosis in enamelin null micelaminin alpha 1 gene is essential for normal lens development in zebrafish.Spontaneous rescue from cystic fibrosis in a mouse model.Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantationTranslational benefits from research on rare genodermatoses.The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses.Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization.Adhesion and migration, the diverse functions of the laminin alpha3 subunit.Do cell junction protein mutations cause an airway phenotype in mice or humans?Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Kidney development and perspectives for organ engineering.Characterization of laminin 5B and NH2-terminal proteolytic fragment of its alpha3B chain: promotion of cellular adhesion, migration, and proliferation.Laminins: Roles and Utility in Wound Repair.Integrins in Wound Healing.A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration.A child with laryngo-onychocutaneous syndrome partially responsive to treatment with thalidomide.
P2860
Q21202884-A80E3A44-59D8-47AE-B848-FA91D728EA2BQ24671643-CECC0F70-4CF9-4A66-8703-BA7CC35A0C72Q26866946-0B08D2A3-B06B-430E-AF1C-09B9747EB82CQ27011750-C97C873C-DB19-4443-9399-F1F1A6E3A01BQ27014088-5F7C02DE-E5E6-4D7A-A4CC-65B1281A25F0Q27021764-97FA91E9-283F-4377-AC7F-D4CF241F2BC1Q28731563-F9060BFC-44C6-4235-B12A-A30937C8D1ABQ33235707-C42B26B3-855C-4CAB-B84F-C098116D81D0Q33237932-78469C3B-86EC-4A43-80E1-30C332BA51AFQ35593464-F650CA8B-66AA-4443-B29A-D6570849FB27Q35739736-A3DADD66-F808-4738-B695-C0D286934636Q36161429-2EAC0839-BB3F-48B3-BBFD-F35A2BB80B8AQ36930182-A29BC096-C0E2-4A47-8493-E2DDF6C8A4F4Q37467630-64B7A042-4B97-4ADA-93A5-0CF03E195BA6Q37640766-27E24E38-F967-4EEA-9CB6-78D2D97E6714Q37836200-580742A7-A1F9-42A8-8D90-9E94BEDC7E15Q38180485-1F460BBD-A652-488F-9D08-2DED2F708106Q38287144-490709AB-5DD6-475B-9911-73FDD07349B4Q39253947-8A93F793-C5F0-49F2-A06A-CBB47D6BBEA1Q40573476-44A92BA3-95E0-43C0-B81A-7BCC7F155C36Q42635302-5273A750-FB5D-438A-BBBE-DE6A265CA6DBQ43049043-FEFC3E0D-D0DA-4555-B9F3-4B71D43933C6Q43488868-3D911D93-055C-43E1-B9F9-DE8805BBD314Q47254579-7A99E286-1752-4DDD-95B9-4177D8D46E0DQ52646554-8DD5B0EF-C771-428B-8B35-14040EF286E0Q52854900-DEF007CE-CABD-4248-B075-F50F84911F27
P2860
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@ast
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@en
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@en-gb
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@nl
type
label
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@ast
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@en
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@en-gb
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@nl
prefLabel
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@ast
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@en
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@en-gb
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@nl
P2093
P50
P356
P1476
An unusual N-terminal deletion ...... yngo-onycho-cutaneous syndrome
@en
P2093
Brian Page
Carrie M Coleman-Campbell
Colin S Munro
David J Atherton
Frances J D Smith
Gabrielle S Ashton
Jemima E Mellerio
Kevin J Hamill
Khawar Khurshid
Neil V Whittock
P304
P356
10.1093/HMG/DDG234
P407
P577
2003-07-15T00:00:00Z