Literature DB >> 22170492

Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm.

Regina C Betz1, Rita M Cabral, Angela M Christiano, Eli Sprecher.   

Abstract

The past two decades have seen significant and unprecedented progress in human genetics owing to the advent of novel molecular biological technologies and major developments in computational methods. Dermatology has benefited from and, in some cases, led these advances. In this article, we review major discoveries in the field of inherited hair diseases, which illustrate the changes that genodermatology has undergone in recent years from a mostly descriptive discipline through the elucidation of the molecular basis of numerous disorders, up to the first attempts at translating these new findings into novel preventive and therapeutic tools to the benefit of our patients.

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Year:  2011        PMID: 22170492     DOI: 10.1038/jid.2011.408

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  9 in total

1.  Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.

Authors:  Maria-Teresa Romano; Aylar Tafazzoli; Maximilian Mattern; Sugirthan Sivalingam; Sabrina Wolf; Alexander Rupp; Holger Thiele; Janine Altmüller; Peter Nürnberg; Jürgen Ellwanger; Reto Gambon; Alessandra Baumer; Nicolai Kohlschmidt; Dieter Metze; Stefan Holdenrieder; Ralf Paus; Dieter Lütjohann; Jorge Frank; Matthias Geyer; Marta Bertolini; Pavlos Kokordelis; Regina C Betz
Journal:  Am J Hum Genet       Date:  2018-10-25       Impact factor: 11.025

Review 2.  [Genetic hair diseases. An update].

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

Review 3.  [Hair anomalies in syndromic disorders].

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

4.  [Alopecia and hypotrichosis in childhood: clinical features and diagnosis].

Authors:  R C Betz
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

5.  A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle.

Authors:  Thibaud Kuca; Brandy M Marron; Joana G P Jacinto; Julia M Paris; Christian Gerspach; Jonathan E Beever; Cord Drögemüller
Journal:  Genes (Basel)       Date:  2021-04-26       Impact factor: 4.096

6.  In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.

Authors:  Syed Irfan Raza; Dost Muhammad; Abid Jan; Raja Hussain Ali; Mubashir Hassan; Wasim Ahmad; Sajid Rashid
Journal:  PLoS One       Date:  2014-08-13       Impact factor: 3.240

7.  Dermatology: Where are We Coming from and Where are We Going to?

Authors:  Peter C M van de Kerkhof
Journal:  Front Med (Lausanne)       Date:  2014-10-24

8.  Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.

Authors:  Thiviyani Maruthappu; Lisa A McGinty; Diana C Blaydon; Benjamin Fell; Arto Määttä; Rebecca Duit; Tim Hawkins; Kristin M Braun; Michael A Simpson; Edel A O'Toole; David P Kelsell
Journal:  J Invest Dermatol       Date:  2017-11-11       Impact factor: 8.551

9.  Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

Authors:  Annika E Schlaweck; Rachid Tazi-Ahnini; F Buket Ü Basmanav; Javed Mohungoo; Sandra M Pasternack-Ziach; Manuel Mattheisen; Ana-Maria Oprisoreanu; Aytaj Humbatova; Sabrina Wolf; Andrew Messenger; Regina C Betz
Journal:  PLoS One       Date:  2019-12-02       Impact factor: 3.240

  9 in total

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