Literature DB >> 12942186

[Genetically induced hair diseases].

T Wiederholt1, P Poblete-Gutiérrez, J Frank.   

Abstract

Over the last years, the rapid advance of discoveries in the field of molecular genetics has provided physicians and scientists with new insights into etiology and pathogenesis of several monogenetic and polygenetic human diseases. Along with remarkable progress regarding genodermatoses in general, different molecular mechanisms involved in hair growth have been elucidated and mutations causing several genetic hair disorders have been identified. We provide an overview of the molecular genetic basis and the clinical hallmarks of some diseases associated with hypertrichosis and hypotrichosis.

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Year:  2003        PMID： 12942186     DOI： 10.1007/s00105-003-0564-8

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


  56 in total

1.  Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Authors:  S Chavanas; C Garner; C Bodemer; M Ali; D H Teillac; J Wilkinson; J L Bonafé; M Paradisi; D P Kelsell; S i Ansai; Y Mitsuhashi; M Larrègue; I M Leigh; J I Harper; A Taïeb; Y d Prost; L R Cardon; A Hovnanian
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  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

Review 3.  Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge.

Authors:  P Poblete Gutiérrez; O Kunitz; C Wolff; J Frank
Journal:  Skin Pharmacol Appl Skin Physiol       Date:  2001 Nov-Dec

4.  Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum.

Authors:  J Liu; S Akoulitchev; A Weber; H Ge; S Chuikov; D Libutti; X W Wang; J W Conaway; C C Harris; R C Conaway; D Reinberg; D Levens
Journal:  Cell       Date:  2001-02-09       Impact factor: 41.582

5.  Congenital hypertrichosis lanuginosa.

Authors:  P Beighton
Journal:  Arch Dermatol       Date:  1970-06

6.  The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.

Authors:  U Radhakrishna; J L Blouin; H Mehenni; T Y Mehta; F J Sheth; J J Sheth; J V Solanki; S E Antonarakis
Journal:  Am J Med Genet       Date:  1997-07-11

Review 7.  Ectodermal dysplasias: not only 'skin' deep.

Authors:  M Priolo; M Silengo; M Lerone; R Ravazzolo
Journal:  Clin Genet       Date:  2000-12       Impact factor: 4.438

8.  New member of the winged-helix protein family disrupted in mouse and rat nude mutations.

Authors:  M Nehls; D Pfeifer; M Schorpp; H Hedrich; T Boehm
Journal:  Nature       Date:  1994-11-03       Impact factor: 49.962

Review 9.  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

10.  Alopecia areata in aging C3H/HeJ mice.

Authors:  J P Sundberg; W R Cordy; L E King
Journal:  J Invest Dermatol       Date:  1994-06       Impact factor: 8.551
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  2 in total

Review 1.  [Genetic hair diseases. An update].

Authors:  J Frank; P Poblete-Gutiérrez; K Giehl
Journal:  Hautarzt       Date:  2013-11       Impact factor: 0.751

Review 2.  [Hair anomalies in syndromic disorders].

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

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