Literature DB >> 23985994

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Fanny Morice-Picard1, Eulalie Lasseaux2, Stéphane François3, Delphine Simon3, Caroline Rooryck1, Eric Bieth4, Estelle Colin5, Dominique Bonneau5, Hubert Journel6, Sophie Walraedt7, Bart P Leroy8, Francoise Meire9, Didier Lacombe1, Benoit Arveiler10.   

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Year:  2013        PMID： 23985994     DOI： 10.1038/jid.2013.360

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  14 in total

Review 1.  Genetics of pigmentary disorders.

Authors:  Yasushi Tomita; Tamio Suzuki
Journal:  Am J Med Genet C Semin Med Genet       Date:  2004-11-15       Impact factor: 3.908

2.  A genomewide association study of skin pigmentation in a South Asian population.

Authors:  Renee P Stokowski; P V Krishna Pant; Tony Dadd; Amelia Fereday; David A Hinds; Carl Jarman; Wendy Filsell; Rebecca S Ginger; Martin R Green; Frans J van der Ouderaa; David R Cox
Journal:  Am J Hum Genet       Date:  2007-10-15       Impact factor: 11.025

3.  Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Authors:  Karen Grønskov; Jakob Ek; Annie Sand; Rudolf Scheller; Anette Bygum; Kim Brixen; Karen Brondum-Nielsen; Thomas Rosenberg
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-05       Impact factor: 4.799

4.  OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.

Authors:  T Kausar; M A Bhatti; M Ali; R S Shaikh; Z M Ahmed
Journal:  Clin Genet       Date:  2012-10-10       Impact factor: 4.438

5.  Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism.

Authors:  C J Witkop
Journal:  Ala J Med Sci       Date:  1979-10

6.  Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

Authors:  M Mondal; M Sengupta; S Samanta; A Sil; K Ray
Journal:  Gene       Date:  2012-09-23       Impact factor: 3.688

7.  SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.

Authors:  Rebecca L Lamason; Manzoor-Ali P K Mohideen; Jason R Mest; Andrew C Wong; Heather L Norton; Michele C Aros; Michael J Jurynec; Xianyun Mao; Vanessa R Humphreville; Jasper E Humbert; Soniya Sinha; Jessica L Moore; Pudur Jagadeeswaran; Wei Zhao; Gang Ning; Izabela Makalowska; Paul M McKeigue; David O'donnell; Rick Kittles; Esteban J Parra; Nancy J Mangini; David J Grunwald; Mark D Shriver; Victor A Canfield; Keith C Cheng
Journal:  Science       Date:  2005-12-16       Impact factor: 47.728

8.  Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.

Authors:  Tamio Suzuki; Yoshinori Miyamura; Katsuhiko Inagaki; Yasushi Tomita
Journal:  J Dermatol Sci       Date:  2003-08       Impact factor: 4.563

9.  Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.

Authors:  P Vogel; R W Read; R B Vance; K A Platt; K Troughton; D S Rice
Journal:  Vet Pathol       Date:  2008-03       Impact factor: 2.221

10.  Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Authors:  Karen Grønskov; Christopher M Dooley; Elsebet Østergaard; Robert N Kelsh; Lars Hansen; Mitchell P Levesque; Kaj Vilhelmsen; Kjeld Møllgård; Derek L Stemple; Thomas Rosenberg
Journal:  Am J Hum Genet       Date:  2013-02-07       Impact factor: 11.025
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  14 in total

1.  Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Authors:  Lucia Mauri; Emanuela Manfredini; Alessandra Del Longo; Emanuela Veniani; Manuela Scarcello; Roberta Terrana; Adriano Egidio Radaelli; Donata Calò; Giuseppe Mingoia; Antonella Rossetti; Giovanni Marsico; Marco Mazza; Giovanni Pietro Gesu; Maria Cristina Patrosso; Silvana Penco; Elena Piozzi; Paola Primignani
Journal:  J Hum Genet       Date:  2016-10-13       Impact factor: 3.172

2.  Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production.

Authors:  Zhao Zhang; Juanjuan Gong; Elena V Sviderskaya; Aihua Wei; Wei Li
Journal:  J Cell Sci       Date:  2019-07-15       Impact factor: 5.285

3.  Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Authors:  Letizia Straniero; Valeria Rimoldi; Giulia Soldà; Lucia Mauri; Emanuela Manfredini; Elena Andreucci; Sara Bargiacchi; Silvana Penco; Giovanni P Gesu; Alessandra Del Longo; Elena Piozzi; Rosanna Asselta; Paola Primignani
Journal:  J Hum Genet       Date:  2015-05-28       Impact factor: 3.172

Review 4.  Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Authors:  Emily Z Ma; Albert E Zhou; Karl M Hoegler; Amor Khachemoune
Journal:  Arch Dermatol Res       Date:  2022-02-25       Impact factor: 3.017

Review 5.  Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Authors:  Muhammad Ikram Ullah
Journal:  Genes (Basel)       Date:  2022-06-16       Impact factor: 4.141

6.  Molecular genetic response of Xiphophorus maculatus-X. couchianus interspecies hybrid skin to UVB exposure.

Authors:  Yuan Lu; Mikki Bowswell; William Bowswell; Kuan Yang; Manfred Schartl; Ronald B Walter
Journal:  Comp Biochem Physiol C Toxicol Pharmacol       Date:  2015-08-06       Impact factor: 3.228

7.  A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

Authors:  Ali H Jalloul; Tatiana P Rogasevskaia; Robert T Szerencsei; Paul P M Schnetkamp
Journal:  J Biol Chem       Date:  2016-04-25       Impact factor: 5.157

8.  Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

Authors:  Sairah Yousaf; Saumil Sethna; Muhammad A Chaudhary; Rehan S Shaikh; Saima Riazuddin; Zubair M Ahmed
Journal:  Pigment Cell Melanoma Res       Date:  2020-04-27       Impact factor: 4.693

Review 9.  Melanosome Biogenesis in the Pigmentation of Mammalian Skin.

Authors:  Linh Le; Julia Sirés-Campos; Graça Raposo; Cédric Delevoye; Michael S Marks
Journal:  Integr Comp Biol       Date:  2021-10-14       Impact factor: 3.326

Review 10.  Mutational analysis of oculocutaneous albinism: a compact review.

Authors:  Balu Kamaraj; Rituraj Purohit
Journal:  Biomed Res Int       Date:  2014-06-29       Impact factor: 3.411
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