Literature DB >> 26596219

Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.

Iria Neri1, Annalucia Virdi1, Giada Tortora2, Sara Baldassari2, Marco Seri2, Annalisa Patrizi3.   

Abstract

Entities:  

Keywords:  ARCI11; Autosomal recessive congenital ichthyosis; Follicular atrophoderma and hypotrichosis

Mesh：

Substances：

Year:  2015        PMID： 26596219     DOI： 10.1016/j.jdermsci.2015.10.012

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  5 in total

1.  A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Authors:  Farooq Ahmad; Ishtaiq Ahmed; Abdul Nasir; Muhammad Umair; Shaheen Shahzad; Dost Muhammad; Regie Lyn P Santos-Cortez; Suzanne M Leal; Wasim Ahmad
Journal:  Eur J Dermatol       Date:  2018-04-01       Impact factor: 3.328

2.  Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Authors:  Regie Lyn P Santos-Cortez; Valeed Khan; Falak Sher Khan; Zaib-Un-Nisa Mughal; Imen Chakchouk; Kwanghyuk Lee; Memoona Rasheed; Rifat Hamza; Anushree Acharya; Ehsan Ullah; Muhammad Arif Nadeem Saqib; Izoduwa Abbe; Ghazanfar Ali; Muhammad Jawad Hassan; Saadullah Khan; Zahid Azeem; Irfan Ullah; Michael J Bamshad; Deborah A Nickerson; Isabelle Schrauwen; Wasim Ahmad; Muhammad Ansar; Suzanne M Leal
Journal:  Hum Genet       Date:  2018-08-22       Impact factor: 4.132

3.  A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Authors:  Leila Youssefian; Andrew Touati; Amir Hossein Saeidian; Omid Zargari; Sirous Zeinali; Hassan Vahidnezhad; Jouni Uitto
Journal:  Orphanet J Rare Dis       Date:  2017-12-06       Impact factor: 4.123

4.  Matriptase drives early-onset intestinal failure in a mouse model of congenital tufting enteropathy.

Authors:  Roman Szabo; LuLu K Callies; Thomas H Bugge
Journal:  Development       Date:  2019-11-18       Impact factor: 6.862

5.  Loss of HAI-2 in mice with decreased prostasin activity leads to an early-onset intestinal failure resembling congenital tufting enteropathy.

Authors:  Roman Szabo; Thomas H Bugge
Journal:  PLoS One       Date:  2018-04-04       Impact factor: 3.240
  5 in total

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