Literature DB >> 11052238

Three unusual siblings with Harlequin icthyosis in an Indian family.

R Sarkar1, R C Sharma, S Sethi, S Basu, R Das, V Mendiratta, K Sardana, N Kakar.   

Abstract

Harlequin fetuses occurring as three siblings in an Indian family are described here. All three were preterm, low birth weight, and did not survive. There was no history of consanguinous marriage in the parents or in the family. Thus autosomal recessive inheritance appears to be a remote possibility, although not impossible or, as recently described, these recurrent harlequin fetuses could be the result of new dominant mutations with parental mosaicism.

Entities:  

Mesh:

Year:  2000        PMID: 11052238     DOI: 10.1111/j.1346-8138.2000.tb02237.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN: 0385-2407            Impact factor:   4.005


  4 in total

1.  Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.

Authors:  Anna C Thomas; Daniel Tattersall; Elizabeth E Norgett; Edel A O'Toole; David P Kelsell
Journal:  Am J Pathol       Date:  2009-01-29       Impact factor: 4.307

2.  Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Authors:  David P Kelsell; Elizabeth E Norgett; Harriet Unsworth; Muy-Teck Teh; Thomas Cullup; Charles A Mein; Patricia J Dopping-Hepenstal; Beverly A Dale; Gianluca Tadini; Philip Fleckman; Karen G Stephens; Virginia P Sybert; Susan B Mallory; Bernard V North; David R Witt; Eli Sprecher; Aileen E M Taylor; Andrew Ilchyshyn; Cameron T Kennedy; Helen Goodyear; Celia Moss; David Paige; John I Harper; Bryan D Young; Irene M Leigh; Robin A J Eady; Edel A O'Toole
Journal:  Am J Hum Genet       Date:  2005-03-08       Impact factor: 11.025

3.  Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.

Authors:  Jorge F Haller; Paul Cavallaro; Nicholas J Hernandez; Lee Dolat; Stephanie J Soscia; Ruth Welti; Gregory A Grabowski; Michael L Fitzgerald; Mason W Freeman
Journal:  J Lipid Res       Date:  2013-11-30       Impact factor: 5.922

4.  Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.

Authors:  Lei Zhang; Michael Ferreyros; Weiguo Feng; Melanie Hupe; Debra A Crumrine; Jiang Chen; Peter M Elias; Walter M Holleran; Lee Niswander; Daniel Hohl; Trevor Williams; Enrique C Torchia; Dennis R Roop
Journal:  PLoS One       Date:  2016-08-23       Impact factor: 3.240

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.