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Literature DB >> 24344921

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

L Fachal¹, L Rodríguez-Pazos, M Ginarte, A Carracedo, J Toribio, A Vega.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 24344921 DOI： 10.1111/bjd.12757

Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302

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10 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. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

Authors: F Ahmad; M Ansar; S Mehmood; A Izoduwa; K Lee; A Nasir; M Abrar; S Mehmood; A Ullah; A Aziz; J D Smith; J Shendure; M J Bamshad; D A Nicekrson; R L P Santos-Cortez; S M Leal; W Ahmad
Journal: J Eur Acad Dermatol Venereol Date: 2015-12-21 Impact factor: 6.166

3. 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

4. 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

5. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.

Authors: Tetsuya Hirabayashi; Tatsuki Anjo; Arisa Kaneko; Yuuya Senoo; Akitaka Shibata; Hiroyuki Takama; Kohei Yokoyama; Yasumasa Nishito; Tomio Ono; Choji Taya; Kazuaki Muramatsu; Kiyoko Fukami; Agustí Muñoz-Garcia; Alan R Brash; Kazutaka Ikeda; Makoto Arita; Masashi Akiyama; Makoto Murakami
Journal: Nat Commun Date: 2017-03-01 Impact factor: 14.919

10. 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

10 in total

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

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

2. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

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

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

5. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.

6. PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.

Review 7. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

8. Collodion Baby with TGM1 gene mutation.

9. A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis.

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