Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
about
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair textureA novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMDGenetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severityGenetic disorders of palm skin and nailIsolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophyIchthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.Epidermolytic Ichthyosis Sine EpidermolysisMutation analysis of human cytokeratin 8 gene in malignant rhabdoid tumor: a possible association with intracytoplasmic inclusion body formation.Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1Human keratin diseases: hereditary fragility of specific epithelial tissues.Keratin gene mutations in disorders of human skin and its appendages.Differential association of polymorphisms in the TNFalpha region with psoriatic arthritis but not psoriasis.Keratins and skin disorders.Intermediate filaments and disease: mutations that cripple cell strength.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disordersKeratin gene mutations in human skin disease.Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments.Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammalsA functional "knockout" of human keratin 14.Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.Expression of dominant-negative Fas-associated death domain blocks human keratinocyte apoptosis and vesication induced by sulfur mustard.A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.Disorders of KeratinizationNovel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1
P2860
Q24273442-F6EF287A-39FE-4910-AA35-E7B5F3450344Q24323765-D3ECC09A-8B19-4C8B-8527-03CF2680C958Q24606047-E30E1EF9-07D7-45D8-8D42-0D6D48BB29DAQ24675896-E619832A-CE9D-42CC-A2BC-0CD7E9E95593Q24677029-2A5618DA-EBF3-4D2E-B8B8-C2D6713C0F41Q33610815-D5559617-0DC2-4F3C-BE70-160258DA852AQ33850381-91DC7224-8116-4BAA-88B0-2E7CA3EA53B2Q34114635-92A81CBC-1D3D-4C78-85C9-E8316469BA56Q34389082-70749118-D704-4E5B-8C02-A507FBA00A2EQ34416078-E3C20633-BB5A-42FC-B29E-68576CAE1294Q35125858-C95FD701-92E4-4921-972D-45CA77E3CE5EQ35551429-7C54B4F0-575F-4F7C-BD6B-6CBB4AD9CD4FQ35923500-C492BCC0-B932-46AE-9821-2A08E502C1DCQ36233886-7F1D67F2-79F8-4498-A903-55E456C295BAQ36809911-51C59C24-EF81-4BBD-A43B-FCBBD0265BA0Q37045238-4EF2BF4E-98B9-4D18-B520-0A817D055CB5Q38634647-8EA6919A-1706-4240-A1F3-0EDEDB62B849Q39639706-7BFFA965-6BB8-413C-A389-2FDE42122110Q41216067-B89F2F18-2143-4D86-AD99-3E43A11A3918Q42476606-56DF4316-85D9-4439-840F-306EF66FF14AQ42485419-FABD93C5-417F-4DAF-A0C4-C33721BB1211Q43979664-E0015909-ECAB-4862-B09C-E3E8C00CA4B0Q44249688-D6C87F54-B2FF-46DC-B9F7-737EE8DBEFEAQ46856717-7CA124F2-E4D6-4BD8-84FE-F05935A1C439Q58859701-917F36C2-C8CA-48C6-81B5-0F79CEAB5C29Q58859934-ABE6F7A0-47DB-44DA-B01D-12A8E7BB2BC7
P2860
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mutations in the rod 1A domain ...... hyosiform erythroderma (BCIE).
@ast
Mutations in the rod 1A domain ...... hyosiform erythroderma (BCIE).
@en
Mutations in the rod 1A domain ...... tal ichthyosiform erythroderma
@nl
type
label
Mutations in the rod 1A domain ...... hyosiform erythroderma (BCIE).
@ast
Mutations in the rod 1A domain ...... hyosiform erythroderma (BCIE).
@en
Mutations in the rod 1A domain ...... tal ichthyosiform erythroderma
@nl
prefLabel
Mutations in the rod 1A domain ...... hyosiform erythroderma (BCIE).
@ast
Mutations in the rod 1A domain ...... hyosiform erythroderma (BCIE).
@en
Mutations in the rod 1A domain ...... tal ichthyosiform erythroderma
@nl
P2093
P1476
Mutations in the rod 1A domain ...... hyosiform erythroderma (BCIE).
@en
P2093
Dopping-Hepenstal PJ
McMillan JR
Navsaria HA
P2888
P356
10.1111/1523-1747.EP12371726
P407
P577
1994-01-01T00:00:00Z
P5875
P6179
1026115759