Literature DB >> 15708289

Genetic hair and nail disorders.

Eli Sprecher1.   

Abstract

Hair and nails are skin appendages that share with other ectodermal tissues a common developmental pathway. Inherited disorders affecting these two structures therefore very often involve other epithelial components and present with multiple anomalies, generating both physical and psychological distress among patients and their families. The present review briefly describes major recent advances in our understanding of hair and nail genodermatoses.

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Year:  2005        PMID： 15708289     DOI： 10.1016/j.clindermatol.2004.09.009

Source DB:  PubMed          Journal:  Clin Dermatol        ISSN： 0738-081X            Impact factor:   3.541


  9 in total

1.  Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.

Authors:  Lina Basel-Vanagaite; Revital Attia; Akemi Ishida-Yamamoto; Limor Rainshtein; Dan Ben Amitai; Raziel Lurie; Metsada Pasmanik-Chor; Margarita Indelman; Alex Zvulunov; Shirley Saban; Nurit Magal; Eli Sprecher; Mordechai Shohat
Journal:  Am J Hum Genet       Date:  2007-01-23       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

3.  A case of ectopic cilia in nail-patella syndrome.

Authors:  Matthew R Edmunds; Athina Kipioti; Peter S Colloby; Tristan T Q Reuser
Journal:  Int Ophthalmol       Date:  2012-03-23       Impact factor: 2.031

4.  Proteomic analysis of human nail plate.

Authors:  Robert H Rice; Yajuan Xia; Rudy J Alvarado; Brett S Phinney
Journal:  J Proteome Res       Date:  2010-11-01       Impact factor: 4.466

5.  Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

Authors:  Janna Nousbeck; Ronen Spiegel; Akemi Ishida-Yamamoto; Margarita Indelman; Ayelet Shani-Adir; Noam Adir; Ehud Lipkin; Sivan Bercovici; Dan Geiger; Maurice A van Steensel; Peter M Steijlen; Reuven Bergman; Albrecht Bindereif; Mordechai Choder; Stavit Shalev; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2008-04-24       Impact factor: 11.025

6.  Mutation in Phospholipase C, δ1 (PLCD1) Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of the Literature.

Authors:  A K Khan; S A Khan; Na Muhammad; No Muhammad; J Ahmad; H Nawaz; A Nasir; S Farman; S Khan
Journal:  Balkan J Med Genet       Date:  2018-10-29       Impact factor: 0.519

7.  Physics of animal health: on the mechano-biology of hoof growth and form.

Authors:  Ramzi Al-Agele; Emily Paul; Sophie Taylor; Charlotte Watson; Craig Sturrock; Michael Drakopoulos; Robert C Atwood; Catrin S Rutland; Nicola Menzies-Gow; Edd Knowles; Jonathan Elliott; Patricia Harris; Cyril Rauch
Journal:  J R Soc Interface       Date:  2019-06-26       Impact factor: 4.118

8.  Characterization of the Onychomatricodermis Containing Onychofibroblasts of the Nail Unit : Histology, Immunohistochemistry, and Electron Microscopic Study.

Authors:  Dongyoun Lee; Gulimila Abudureyimu; Ji-Hye Park; Kee-Taek Jang; Ghee Young Kwon; Jong Sup Shim
Journal:  Ann Dermatol       Date:  2021-03-08       Impact factor: 1.444

9.  Genome array of hair follicle genes in lambskin with different patterns.

Authors:  Wei Sun; Rong Ni; Jin Feng Yin; Hassan H Musa; Tong jia Ding; Ling Chen
Journal:  PLoS One       Date:  2013-07-30       Impact factor: 3.240
  9 in total

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