Literature DB >> 8004094

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

A Smahi1, C Hyden-Granskog, B Peterlin, P Vabres, S Heuertz, M C Fulchignoni-Lataud, N Dahl, P Labrune, B Le Marec, C Piussan.   

Abstract

Linkage data for familial incontinentia pigmenti (IP2) and 17 X chromosomal markers are reported. The linkage previously found between IP2 and the F8C locus is confirmed (Z max = 11.85 at theta = 0.028). Linkage is established with distal markers DXS1108 (Z max = 10.06 at theta = 0.00) and DXYS154 (Z = 9.07 at theta = 0.019). Multipoint analysis supports the distal localization of the IP2 gene with respect to the F8C locus.

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Year:  1994        PMID： 8004094     DOI： 10.1093/hmg/3.2.273

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  9 in total

Review 1.  Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

2.  X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Authors:  E Hatchwell; D Robinson; J A Crolla; A E Cockwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  Incontinentia pigmenti: a rare genodermatosis in a male child.

Authors:  Dinesh Kumar Narayana Swamy; Arulkumaran Arunagirinathan; Revathi Krishnakumar; Sivaraman Sangili
Journal:  J Clin Diagn Res       Date:  2015-02-01

4.  De novo mutation in three families with multigenerational incontinentia pigmenti.

Authors:  A Scheuerle; R A Lewis; M L Levy; D L Nelson
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

5.  X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Authors:  S W Knight; N S Heiss; T J Vulliamy; S Greschner; G Stavrides; G S Pai; G Lestringant; N Varma; P J Mason; I Dokal; A Poustka
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

6.  Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti.

Authors:  S Jean-Baptiste; E A O'Toole; M Chen; J Guitart; A Paller; L S Chan
Journal:  Clin Exp Immunol       Date:  2002-03       Impact factor: 4.330

7.  The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

Authors:  M Wijker; M J Ligtenberg; F Schoute; J C Defesche; G Pals; P A Bolhuis; H H Ropers; T J Hulsebos; F H Menko; B A van Oost
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

8.  Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Authors:  T T Kirchman; M L Levy; R A Lewis; M H Kanzler; D L Nelson; A E Scheuerle
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

9.  Case reports of incontinentia pigmenti in males.

Authors:  Khushboo D Gupta; Bela B Padhiar; Umesh K Karia; Bela J Shah
Journal:  Indian J Dermatol       Date:  2013-07       Impact factor: 1.494
  9 in total

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