Literature DB >> 15744029

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

M A M van Steensel1, P M Steijlen, R S Bladergroen, M Vermeer, M van Geel.   

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Year:  2005        PMID： 15744029      PMCID： PMC1736019          DOI： 10.1136/jmg.2004.021030

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  17 in total

1.  Acquired nonscarring diffuse hair loss in a 3-year-old girl.

Authors:  Matthias Möhrenschlager; Ingrid Weichenmeier; Roger Lauener; Wolf-Ingo Worret; Johannnes Ring; Heidrun Behrendt
Journal:  Eur J Pediatr       Date:  2010-07-29       Impact factor: 3.183

2.  Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Authors:  Naveed Wasif; Syed Kamran ul-Hassan Naqvi; Sulman Basit; Nadir Ali; Muhammad Ansar; Wasim Ahmad
Journal:  Hum Genet       Date:  2010-12-28       Impact factor: 4.132

3.  PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.

Authors:  Andrew H Jheon; Pasha Mostowfi; Malcolm L Snead; Rebecca A Ihrie; Eli Sone; Tiziano Pramparo; Laura D Attardi; Ophir D Klein
Journal:  J Cell Sci       Date:  2011-02-01       Impact factor: 5.285

Review 4.  Keratin gene mutations in disorders of human skin and its appendages.

Authors:  Jean Christopher Chamcheu; Imtiaz A Siddiqui; Deeba N Syed; Vaqar M Adhami; Mirjana Liovic; Hasan Mukhtar
Journal:  Arch Biochem Biophys       Date:  2010-12-19       Impact factor: 4.013

5.  An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.

Authors:  Madoka Kato; Akira Shimizu; Yoko Yokoyama; Kyoichi Kaira; Yutaka Shimomura; Akemi Ishida-Yamamoto; Kiyoko Kamei; Fuminori Tokunaga; Osamu Ishikawa
Journal:  J Invest Dermatol       Date:  2015-01-23       Impact factor: 8.551

Review 6.  To grow or not to grow: hair morphogenesis and human genetic hair disorders.

Authors:  Olivier Duverger; Maria I Morasso
Journal:  Semin Cell Dev Biol       Date:  2013-12-17       Impact factor: 7.727

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

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

Review 8.  The molecular basis of human keratin disorders.

Authors:  Meral Julia Arin
Journal:  Hum Genet       Date:  2009-02-27       Impact factor: 4.132

9.  Frizzled6 deficiency disrupts the differentiation process of nail development.

Authors:  Chang-Yi Cui; Joakim Klar; Patrik Georgii-Heming; Anne-Sophie Fröjmark; Shahid M Baig; David Schlessinger; Niklas Dahl
Journal:  J Invest Dermatol       Date:  2013-02-25       Impact factor: 8.551

10.  A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix.

Authors:  Jin Wu; Yongli Lin; Wenrong Xu; Zhongming Li; Weixin Fan
Journal:  J Biomed Res       Date:  2011-01
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