Literature DB >> 12838398

Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22.

Wei Zhong1, Bin Cui, Yizhi Zhang, Haisong Jiang, Shengcai Wei, Lei Bu, Guoping Zhao, Landian Hu, Xiangyin Kong.   

Abstract

Ichthyosis vulgaris (IV) is an inherited scaling skin disorder with a prevalence estimated at 2.29% in China. The gene responsible for this disorder has not been elucidated. To find the disease gene, we ascertained two Chinese IV families. Linkage analysis identified an IV locus on chromosome 1q22 with a maximum two-point Lod score of 2.47 at D1S1653 (theta=0.00). Haplotype analysis placed the critical region in a 7-cM interval defined by D1S1653 and D1S2675. These results provide the basis for further identifying the gene responsible for IV disorder.

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Year:  2003        PMID: 12838398     DOI: 10.1007/s10038-003-0043-1

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


  11 in total

1.  Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.

Authors:  R S Wells; C B Kerr
Journal:  Br Med J       Date:  1966-04-16

2.  Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: chromosomal orientation, new markers, and a 6-Mb YAC contig.

Authors:  I Marenholz; A Volz; A Ziegler; A Davies; I Ragoussis; B P Korge; D Mischke
Journal:  Genomics       Date:  1996-11-01       Impact factor: 5.736

3.  Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.

Authors:  John G Compton; John J DiGiovanna; Kay A Johnston; Philip Fleckman; Sherri J Bale
Journal:  Exp Dermatol       Date:  2002-12       Impact factor: 3.960

Review 4.  X-linked ichthyosis: an update.

Authors:  A Hernández-Martín; R González-Sarmiento; P De Unamuno
Journal:  Br J Dermatol       Date:  1999-10       Impact factor: 9.302

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Authors:  R W Cottingham; R M Idury; A A Schäffer
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

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Authors:  A A Schäffer; S K Gupta; K Shriram; R W Cottingham
Journal:  Hum Hered       Date:  1994 Jul-Aug       Impact factor: 0.444

7.  Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris.

Authors:  R B Presland; D Boggess; S P Lewis; C Hull; P Fleckman; J P Sundberg
Journal:  J Invest Dermatol       Date:  2000-12       Impact factor: 8.551

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Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  Decreased profilaggrin expression in ichthyosis vulgaris is a result of selectively impaired posttranscriptional control.

Authors:  W Nirunsuksiri; R B Presland; S G Brumbaugh; B A Dale; P Fleckman
Journal:  J Biol Chem       Date:  1995-01-13       Impact factor: 5.157

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Authors:  M Okano; Y Kitano; K Yoshikawa; T Nakamura; Y Matsuzawa; T Yuasa
Journal:  Br J Dermatol       Date:  1988-12       Impact factor: 9.302

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  2 in total

Review 1.  Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.

Authors:  Matthias Schmuth; Robert Gruber; Peter M Elias; Mary L Williams
Journal:  Adv Dermatol       Date:  2007

2.  Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

Authors:  Xiong Wang; Lu Tan; Na Shen; Yanjun Lu; Ying Zhang
Journal:  BMC Med Genet       Date:  2018-07-18       Impact factor: 2.103

  2 in total

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