Literature DB >> 24177665

[Genetic hair diseases. An update].

J Frank1, P Poblete-Gutiérrez, K Giehl.   

Abstract

Patients suffering from hair loss or undesirable excessive hair growth are a challenge for dermatologists because the pathogenesis of most hair diseases is not well understood and therapeutic options are limited. This particularly holds true for genetic hair disorders, in which all current treatment attempts are unsuccessful. Furthermore, these diseases also pose a diagnostic challenge due to a broad range of clinical and genetic heterogeneity. However, the enormous progress in molecular biology over the past 20 years, in particular the availability of different new techniques such as whole exome and genome sequencing, has enabled us to elucidate the genetic basis of most monogenic hair disorders, given the availability of suitable index patients and families as well as adequate technical equipment and sufficient financial resources. In this review we provide an update on clinical and genetic aspects of selected monogenic and polygenic hair diseases manifesting with hypertrichosis and hypotrichosis.

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Year:  2013        PMID: 24177665     DOI: 10.1007/s00105-013-2578-1

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  91 in total

1.  Exposing the human nude phenotype.

Authors:  J Frank; C Pignata; A A Panteleyev; D M Prowse; H Baden; L Weiner; L Gaetaniello; W Ahmad; N Pozzi; P B Cserhalmi-Friedman; V M Aita; H Uyttendaele; D Gordon; J Ott; J L Brissette; A M Christiano
Journal:  Nature       Date:  1999-04-08       Impact factor: 49.962

2.  Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.

Authors:  Amalia Martinez-Mir; Abraham Zlotogorski; Derek Gordon; Lynn Petukhova; Jianhong Mo; T Conrad Gilliam; Douglas Londono; Chad Haynes; Jurg Ott; Maria Hordinsky; Krassimira Nanova; David Norris; Vera Price; Madeleine Duvic; Angela M Christiano
Journal:  Am J Hum Genet       Date:  2007-01-05       Impact factor: 11.025

Review 3.  Ectodermal dysplasias: clinical and molecular review.

Authors:  Atila F Visinoni; Toni Lisboa-Costa; Nina A B Pagnan; Eleidi A Chautard-Freire-Maia
Journal:  Am J Med Genet A       Date:  2009-09       Impact factor: 2.802

Review 4.  Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.

Authors:  B Ruhin; V Martinot; P Lafforgue; B Catteau; S Manouvrier-Hanu; J Ferri
Journal:  Cleft Palate Craniofac J       Date:  2001-09

5.  Hair-nail dysplasia--a new pure autosomal dominant ectodermal dysplasia.

Authors:  M Pinheiro; N Freire-Maia
Journal:  Clin Genet       Date:  1992-06       Impact factor: 4.438

Review 6.  Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)

Authors:  F A Baumeister; J Egger; M T Schildhauer; S Stengel-Rutkowski
Journal:  Clin Genet       Date:  1993-09       Impact factor: 4.438

7.  A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

Authors:  Muhammad Ayub; Sulman Basit; Musharraf Jelani; Fazal Ur Rehman; Muhammad Iqbal; Masoom Yasinzai; Wasim Ahmad
Journal:  Am J Hum Genet       Date:  2009-09-17       Impact factor: 11.025

8.  Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.

Authors:  M Tadin-Strapps; D Warburton; F A M Baumeister; S G Fischer; J Yonan; T C Gilliam; A M Christiano
Journal:  Cytogenet Genome Res       Date:  2004       Impact factor: 1.636

9.  A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

Authors:  M Naeem; M Wajid; K Lee; S M Leal; W Ahmad
Journal:  J Med Genet       Date:  2006-03       Impact factor: 6.318

Review 10.  The genetic signatures of noncoding RNAs.

Authors:  John S Mattick
Journal:  PLoS Genet       Date:  2009-04-24       Impact factor: 5.917

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  1 in total

Review 1.  [Hair anomalies in syndromic disorders].

Authors:  J Frank; R C Betz
Journal:  Hautarzt       Date:  2019-07       Impact factor: 0.751

  1 in total

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