Literature DB >> 20815031

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis.

Fanny Morice-Picard1, Christine Léauté-Labrèze, Aude Décor, Franck Boralevi, Didier Lacombe, Alain Taieb, Judith Fischer.   

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Year:  2010        PMID: 20815031     DOI: 10.1002/ajmg.a.33648

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  6 in total

1.  Role of fatty acid transporters in epidermis: Implications for health and disease.

Authors:  Denis Khnykin; Jeffrey H Miner; Frode Jahnsen
Journal:  Dermatoendocrinol       Date:  2011-04-01

2.  The expression and function of fatty acid transport protein-2 and -4 in the murine placenta.

Authors:  Takuya Mishima; Jeffrey H Miner; Mayumi Morizane; Andreas Stahl; Yoel Sadovsky
Journal:  PLoS One       Date:  2011-10-20       Impact factor: 3.240

3.  FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.

Authors:  Maria Sobol; Niklas Dahl; Joakim Klar
Journal:  BMC Res Notes       Date:  2011-03-30

4.  Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.

Authors:  Ikuya Tsuge; Masashi Morishita; Takema Kato; Makiko Tsutsumi; Hidehito Inagaki; Yuji Mori; Kazuo Yamawaki; Chisato Inuo; Kuniko Ieda; Tamae Ohye; Akinori Hayakawa; Hiroki Kurahashi
Journal:  Hum Genome Var       Date:  2015-02-12

5.  A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

Authors:  Jianning Tao; Maranke I Koster; Wilbur Harrison; Jennifer L Moran; David R Beier; Dennis R Roop; Paul A Overbeek
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

Review 6.  Genetics of Inherited Ichthyoses and Related Diseases.

Authors:  Judith Fischer; Emmanuelle Bourrat
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

  6 in total

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