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Literature DB >> 29315490

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

D Vodo^1,2, E A O'Toole³, N Malchin¹, A Lahav⁴, N Adir⁴, O Sarig¹, K J Green⁵, F J D Smith⁶, E Sprecher^1,2.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2018 PMID： 29315490 PMCID： PMC6035112 DOI： 10.1111/bjd.16320

Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302

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15 in total

1. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

Authors: Neil V Whittock; Frances J Smith; Hong Wan; Rajeev Mallipeddi; W Andrew Griffiths; Patricia Dopping-Hepenstal; Gabrielle H Ashton; Robin A Eady; W H Irwin McLean; John A McGrath
Journal: J Invest Dermatol Date: 2002-05 Impact factor: 8.551

2. C-cadherin ectodomain structure and implications for cell adhesion mechanisms.

Authors: Titus J Boggon; John Murray; Sophie Chappuis-Flament; Ellen Wong; Barry M Gumbiner; Lawrence Shapiro
Journal: Science Date: 2002-04-18 Impact factor: 47.728

3. The molecular architecture of cadherins in native epidermal desmosomes.

Authors: Ashraf Al-Amoudi; Daniel Castaño Díez; Matthew J Betts; Achilleas S Frangakis
Journal: Nature Date: 2007-12-06 Impact factor: 49.962

4. Structural basis of adhesive binding by desmocollins and desmogleins.

Authors: Oliver J Harrison; Julia Brasch; Gorka Lasso; Phinikoula S Katsamba; Goran Ahlsen; Barry Honig; Lawrence Shapiro
Journal: Proc Natl Acad Sci U S A Date: 2016-06-13 Impact factor: 11.205

5. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.

Authors: L Rickman; D Simrak; H P Stevens; D M Hunt; I A King; S P Bryant; R A Eady; I M Leigh; J Arnemann; A I Magee; D P Kelsell; R S Buxton
Journal: Hum Mol Genet Date: 1999-06 Impact factor: 6.150

Review 6. Palmoplantar keratodermas.

Authors: Peter H Itin; Susanna K Fistarol
Journal: Clin Dermatol Date: 2005 Jan-Feb Impact factor: 3.541

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

1. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

2. C-cadherin ectodomain structure and implications for cell adhesion mechanisms.

3. The molecular architecture of cadherins in native epidermal desmosomes.

4. Structural basis of adhesive binding by desmocollins and desmogleins.

5. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.

Review 6. Palmoplantar keratodermas.

7. Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.

8. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

9. The Phyre2 web portal for protein modeling, prediction and analysis.

10. LOMETS: a local meta-threading-server for protein structure prediction.

1. Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes.

2. Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.