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Literature DB >> 28403545

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

L M Boyden¹, B G Craiglow^2,3, R H Hu², J Zhou², J Browning⁴, L Eichenfield⁵, Y L Lim⁶, M Luu⁷, L M Randolph⁸, M Ginarte⁹, L Fachal¹⁰, L Rodriguez-Pazos¹¹, A Vega¹⁰, D Kramer¹², G Yosipovitch¹³, H Vahidnezhad¹⁴, L Youssefian¹⁴, J Uitto¹⁴, R P Lifton¹, A S Paller¹⁵, L M Milstone², K A Choate^1,2,16.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2017 PMID： 28403545 PMCID： PMC5522355 DOI： 10.1111/bjd.15570

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

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9 in total

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

Authors: Eunji Lee; Obaid Ur Rahman; Muhammad Tariq Masood Khan; Abdul Wadood; Muhammad Naeem; Changsoo Kang; Musharraf Jelani
Journal: J Dermatol Sci Date: 2015-12-31 Impact factor: 4.563

2. Characterization of the human patatin-like phospholipase family.

Authors: Paul A Wilson; Scott D Gardner; Natalie M Lambie; Stephane A Commans; Daniel J Crowther
Journal: J Lipid Res Date: 2006-06-25 Impact factor: 5.922

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. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

Authors: Hassan Vahidnezhad; Leila Youssefian; Amir Hossein Saeidian; Sirous Zeinali; Parvin Mansouri; Soheila Sotoudeh; Mohammadreza Barzegar; Javad Mohammadi-Asl; Razieh Karamzadeh; Maryam Abiri; Kevin McCormick; Paolo Fortina; Jouni Uitto
Journal: J Invest Dermatol Date: 2016-11-21 Impact factor: 8.551

5. 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

6. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Authors: Maritta Hellström Pigg; Anette Bygum; Agneta Gånemo; Marie Virtanen; Flemming Brandrup; Andreas D Zimmer; Alrun Hotz; Anders Vahlquist; Judith Fischer
Journal: Acta Derm Venereol Date: 2016-11-02 Impact factor: 4.437

7. Autosomal dominant lamellar ichthyosis.

Authors: J Toribio; V Fernández Redondo; C Peteiro; A Zulaica; J M Fabeiro
Journal: Clin Genet Date: 1986-08 Impact factor: 4.438

8. Multiple local and recent founder effects of TGM1 in Spanish families.

Authors: Laura Fachal; Laura Rodríguez-Pazos; Manuel Ginarte; Jaime Toribio; Antonio Salas; Ana Vega
Journal: PLoS One Date: 2012-04-12 Impact factor: 3.240

9. 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 in total

7 in total

1. 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

Review 2. Insights into genetics, human biology and disease gleaned from family based genomic studies.

Authors: Jennifer E Posey; Anne H O'Donnell-Luria; Jessica X Chong; Tamar Harel; Shalini N Jhangiani; Zeynep H Coban Akdemir; Steven Buyske; Davut Pehlivan; Claudia M B Carvalho; Samantha Baxter; Nara Sobreira; Pengfei Liu; Nan Wu; Jill A Rosenfeld; Sushant Kumar; Dimitri Avramopoulos; Janson J White; Kimberly F Doheny; P Dane Witmer; Corinne Boehm; V Reid Sutton; Donna M Muzny; Eric Boerwinkle; Murat Günel; Deborah A Nickerson; Shrikant Mane; Daniel G MacArthur; Richard A Gibbs; Ada Hamosh; Richard P Lifton; Tara C Matise; Heidi L Rehm; Mark Gerstein; Michael J Bamshad; David Valle; James R Lupski
Journal: Genet Med Date: 2019-01-18 Impact factor: 8.822

3. Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

Authors: Leila Youssefian; Amir Hossein Saeidian; Fahimeh Palizban; Atefeh Bagherieh; Fahimeh Abdollahimajd; Soheila Sotoudeh; Nikoo Mozafari; Rahele A Farahani; Hamidreza Mahmoudi; Sadegh Babashah; Masoud Zabihi; Sirous Zeinali; Paolo Fortina; Julio C Salas-Alanis; Andrew P South; Hassan Vahidnezhad; Jouni Uitto
Journal: Clin Chem Date: 2021-06-01 Impact factor: 8.327

7. 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