Literature DB >> 7512859

The gene for Darier's disease maps between D12S78 and D12S79.

E Parfitt1, S Burge, N Craddock, E Roberts, W H McLean, J Weissenbach, P McGuffin, M Owen.   

Abstract

Darier's disease is a dominantly inherited skin disorder in which there is abnormal adhesion between keratinocytes. We and others have recently mapped the disease gene to chromosome 12q23-q 24.1. In the present study we have established that the disease gene lies between the loci D12S78 and D12S79 which are 12cM apart. We have also obtained direct evidence that the disease is unlikely to result from a mutation in one of the members of the keratin gene cluster on chromosome 12q.

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Year:  1994        PMID: 7512859     DOI: 10.1093/hmg/3.1.35

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


  5 in total

1.  Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.

Authors:  S Monk; A Sakuntabhai; S A Carter; S D Bryce; R Cox; L Harrington; E Levy; V L Ruiz-Perez; E Katsantoni; A Kodvawala; C S Munro; S Burge; M Larrègue; G Nagy; J L Rees; M Lathrop; A P Monaco; T Strachan; A Hovnanian
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

2.  Linkage analysis between schizophrenia and the Darier's disease region on 12q.

Authors:  M P O'Malley; A S Bassett; W G Honer; J L Kennedy; N King; D Berg
Journal:  Psychiatr Genet       Date:  1996       Impact factor: 2.458

3.  Localization of the Darier disease gene to a 2-cM portion of 12q23-24.1.

Authors:  P Wakem; S Ikeda; A Haake; R Polakowska; N Ewing; Y Sarret; M Duvic; D Berg; A Bassett; J L Kennedy; A Tuskis; E H Epstein; L A Goldsmith
Journal:  J Invest Dermatol       Date:  1996-02       Impact factor: 8.551

Review 4.  Darier Disease - A Multi-organ Condition?

Authors:  Etty Bachar-Wikström; Jakob D Wikström
Journal:  Acta Derm Venereol       Date:  2021-04-15       Impact factor: 3.875

5.  Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.

Authors:  K Takahashi; J Folmer; P A Coulombe
Journal:  J Cell Biol       Date:  1994-10       Impact factor: 10.539

  5 in total

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