Literature DB >> 26778108

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.

Eunji Lee1, Obaid Ur Rahman2, Muhammad Tariq Masood Khan3, Abdul Wadood4, Muhammad Naeem5, Changsoo Kang6, Musharraf Jelani7.   

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Year:  2015        PMID： 26778108     DOI： 10.1016/j.jdermsci.2015.12.012

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


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  5 in total

1.  Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

Authors:  L M Boyden; B G Craiglow; R H Hu; J Zhou; J Browning; L Eichenfield; Y L Lim; M Luu; L M Randolph; M Ginarte; L Fachal; L Rodriguez-Pazos; A Vega; D Kramer; G Yosipovitch; H Vahidnezhad; L Youssefian; J Uitto; R P Lifton; A S Paller; L M Milstone; K A Choate
Journal:  Br J Dermatol       Date:  2017-06-07       Impact factor: 9.302

2.  Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.

Authors:  Farooq Ahmad; Ishtiaq Ahmed; Qamre Alam; Tanveer Ahmad; Ammara Khan; Ijaz Ahmad; Muhammad Bilal; Amir Hayat; Amjad Khan; Ahmed Waqas; Misbahuddin M Rafeeq; Ziaullah M Sain; Muhammad Umair
Journal:  Mol Syndromol       Date:  2021-08-24

3.  PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.

Authors:  Susanne Grond; Thomas O Eichmann; Sandrine Dubrac; Dagmar Kolb; Matthias Schmuth; Judith Fischer; Debra Crumrine; Peter M Elias; Guenter Haemmerle; Rudolf Zechner; Achim Lass; Franz P W Radner
Journal:  J Invest Dermatol       Date:  2016-10-14       Impact factor: 8.551

Review 4.  PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

Authors:  Fansi Zeng; Wenzhen Qin; Feifei Huang; Pingan Chang
Journal:  Metabolites       Date:  2022-07-26

5.  Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Authors:  Liangshan Li; Wenmiao Liu; Yinglei Xu; Miaomiao Li; Qian Tang; Bo Yu; Renmei Cai; Shiguo Liu
Journal:  Mol Genet Genomic Med       Date:  2019-12-13       Impact factor: 2.183
  5 in total

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