Literature DB >> 6221990

A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2.

J Greiner, J Krüger, L Palden, E G Jung, F Vogel.   

Abstract

As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of the AKE family. Loose linkage is possible between AKE and ACP1, IGKC, and Jk, but the estimated recombination fractions do not reach significant deviations from 0.5. However, since the three marker loci have been previously assigned to chromosome 2, the AKE locus might be assigned tentatively to the same chromosome. Of the provisionally and inconsistently assigned markers, only blood group P is seen to be in linkage with HLA.

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Year:  1983        PMID: 6221990     DOI: 10.1007/bf00284653

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  17 in total

1.  [Not Available].

Authors:  O G COSTA
Journal:  Ann Dermatol Syphiligr (Paris)       Date:  1956 Mar-Apr

2.  Akrokerato-elastoidosis; a hitherto undescribed skin disease.

Authors:  O G COSTA
Journal:  Dermatologica       Date:  1953

3.  Acrokerato-elastoidosis in a Somerset mother and her two sons.

Authors:  C N Matthews; R R Harman
Journal:  Br J Dermatol       Date:  1977-07       Impact factor: 9.302

4.  Acrokeratoelastoidosis mimicking palmo-plantar xanthomata.

Authors:  E G Jung; F U Beil
Journal:  Nutr Metab       Date:  1973       Impact factor: 4.169

5.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

6.  [Acrokeratoelastoidosis].

Authors:  E G Jung; F U Beil; I Anton-Lamprecht; H Greten; T Nemetschek
Journal:  Hautarzt       Date:  1974-03       Impact factor: 0.751

7.  Acrokeratoelastoidosis.

Authors:  E G Jung
Journal:  Humangenetik       Date:  1973

8.  The human genome through the eyes of a clinical geneticist.

Authors:  V A McKusick
Journal:  Cytogenet Cell Genet       Date:  1982

9.  Report of the committee on the genetic constitution of chromosomes 2, 3, 4, and 5. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.

Authors:  P J McAlpine; D Bootsma
Journal:  Cytogenet Cell Genet       Date:  1982

10.  The 1981 catalogue of assigned human genetic markers and report of the nomenclature committee. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.

Authors:  T B Shows; P J McAlpine
Journal:  Cytogenet Cell Genet       Date:  1982
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  3 in total

1.  A sporadic case of unilateral acrokeratoelastoidosis in Saudi Arabia: a case report.

Authors:  Hassan S AlKahtani; Ahmed A AlHumidi; Abdullah H Al-Hargan; Ahmed A Al-Sayed
Journal:  J Med Case Rep       Date:  2014-05-08

2.  New-onset acrokeratoelastoidosis in an immunosuppressed patient.

Authors:  Aamir Hussain; Ashley Jenkins; Ashley Feneran; Farah Abdulla
Journal:  JAAD Case Rep       Date:  2017-12-19

3.  Perfluorooctane sulfonate (PFOS) and perfluorooctanoate (PFOA) acutely affect human α1β2γ2L GABAA receptor and spontaneous neuronal network function in vitro.

Authors:  Anke M Tukker; Lianne M S Bouwman; Regina G D M van Kleef; Hester S Hendriks; Juliette Legler; Remco H S Westerink
Journal:  Sci Rep       Date:  2020-03-24       Impact factor: 4.379

  3 in total

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