Literature DB >> 26691440

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

F Ahmad1, M Ansar1, S Mehmood1, A Izoduwa2, K Lee2, A Nasir1, M Abrar1, S Mehmood1, A Ullah1, A Aziz1, J D Smith2, J Shendure2, M J Bamshad2, D A Nicekrson2, R L P Santos-Cortez2, S M Leal2, W Ahmad1,3.   

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Year:  2015        PMID： 26691440      PMCID： PMC5093081          DOI： 10.1111/jdv.13540

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  9 in total

1.  SWISS-MODEL: An automated protein homology-modeling server.

Authors:  Torsten Schwede; Jürgen Kopp; Nicolas Guex; Manuel C Peitsch
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

Review 2.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Authors:  Vinzenz Oji; Gianluca Tadini; Masashi Akiyama; Claudine Blanchet Bardon; Christine Bodemer; Emmanuelle Bourrat; Philippe Coudiere; John J DiGiovanna; Peter Elias; Judith Fischer; Philip Fleckman; Michal Gina; John Harper; Takashi Hashimoto; Ingrid Hausser; Hans Christian Hennies; Daniel Hohl; Alain Hovnanian; Akemi Ishida-Yamamoto; Witold K Jacyk; Sancy Leachman; Irene Leigh; Juliette Mazereeuw-Hautier; Leonard Milstone; Fanny Morice-Picard; Amy S Paller; Gabriele Richard; Matthias Schmuth; Hiroshi Shimizu; Eli Sprecher; Maurice Van Steensel; Alain Taïeb; Jorge R Toro; Pierre Vabres; Anders Vahlquist; Mary Williams; Heiko Traupe
Journal:  J Am Acad Dermatol       Date:  2010-10       Impact factor: 11.527

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

Authors:  L Fachal; L Rodríguez-Pazos; M Ginarte; A Carracedo; J Toribio; A Vega
Journal:  Br J Dermatol       Date:  2014-04       Impact factor: 9.302

4.  A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

Authors:  Muhammad Ansar; Syed Irfan Raza; Kwanghyuk Lee; Shamim Shahi; Anushree Acharya; Hang Dai; Joshua D Smith; Jay Shendure; Michael J Bamshad; Deborah A Nickerson; Regie Lyn P Santos-Cortez; Wasim Ahmad; Suzanne M Leal
Journal:  J Med Genet       Date:  2015-07-09       Impact factor: 6.318

5.  Autosomal recessive congenital ichthyosis.

Authors:  Judith Fischer
Journal:  J Invest Dermatol       Date:  2009-06       Impact factor: 8.551

6.  Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Authors:  Sabba Mehmood; Abid Jan; Dost Muhammad; Farooq Ahmad; Hina Mir; Muhammad Younus; Ghazanfar Ali; Muhammad Ayub; Muhammad Ansar; Wasim Ahmad
Journal:  Australas J Dermatol       Date:  2014-03-13       Impact factor: 2.875

Review 7.  Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions.

Authors:  Petra C Kienesberger; Monika Oberer; Achim Lass; Rudolf Zechner
Journal:  J Lipid Res       Date:  2008-11-23       Impact factor: 5.922

8.  PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

Authors:  Anaïs Grall; Eric Guaguère; Sandrine Planchais; Susanne Grond; Emmanuelle Bourrat; Ingrid Hausser; Christophe Hitte; Matthieu Le Gallo; Céline Derbois; Gwang-Jin Kim; Laëtitia Lagoutte; Frédérique Degorce-Rubiales; Franz P W Radner; Anne Thomas; Sébastien Küry; Emmanuel Bensignor; Jacques Fontaine; Didier Pin; Robert Zimmermann; Rudolf Zechner; Mark Lathrop; Francis Galibert; Catherine André; Judith Fischer
Journal:  Nat Genet       Date:  2012-01-15       Impact factor: 38.330

9.  Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

Authors:  Franz P W Radner; Slaheddine Marrakchi; Peter Kirchmeier; Gwang-Jin Kim; Florence Ribierre; Bourane Kamoun; Leila Abid; Michael Leipoldt; Hamida Turki; Werner Schempp; Roland Heilig; Mark Lathrop; Judith Fischer
Journal:  PLoS Genet       Date:  2013-06-06       Impact factor: 5.917
  9 in total
  6 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.  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

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

Review 6.  PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

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

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