Literature DB >> 28504827

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.

S Khan1,2, M Ansar2, A K Khan1, K Shah2, N Muhammad1, S Shahzad3, D A Nickerson4, M J Bamshad4,5, R L P Santos-Cortez6,7, S M Leal6, W Ahmad2.   

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Year:  2017        PMID： 28504827      PMCID： PMC5685937          DOI： 10.1111/bjd.15661

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


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  11 in total

1.  Age and sex variation in lipid composition of human fingernail plates.

Authors:  M Helmdach; A Thielitz; E M Röpke; H Gollnick
Journal:  Skin Pharmacol Appl Skin Physiol       Date:  2000 Mar-Apr

2.  The yeast mitochondrial carrier Leu5p and its human homologue Graves' disease protein are required for accumulation of coenzyme A in the matrix.

Authors:  C Prohl; W Pelzer; K Diekert; H Kmita; T Bedekovics; G Kispal; R Lill
Journal:  Mol Cell Biol       Date:  2001-02       Impact factor: 4.272

Review 3.  The mitochondrial transporter family SLC25: identification, properties and physiopathology.

Authors:  Ferdinando Palmieri
Journal:  Mol Aspects Med       Date:  2012-12-23

4.  Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.

Authors:  K Shah; T M Ferrara; A Jan; M Umair; S Khan; W Ahmad; R A Spritz
Journal:  Br J Dermatol       Date:  2017-06-22       Impact factor: 9.302

Review 5.  Genetics of human isolated hereditary nail disorders.

Authors:  S Khan; S Basit; R Habib; A Kamal; N Muhammad; W Ahmad
Journal:  Br J Dermatol       Date:  2015-09-08       Impact factor: 9.302

6.  Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

Authors:  Matthew A Lines; C Anthony Rupar; Jack W Rip; Berivan Baskin; Peter N Ray; Robert A Hegele; David Grynspan; Jean Michaud; Michael T Geraghty
Journal:  JIMD Rep       Date:  2013-07-31

Review 7.  SLC transporters as therapeutic targets: emerging opportunities.

Authors:  Lawrence Lin; Sook Wah Yee; Richard B Kim; Kathleen M Giacomini
Journal:  Nat Rev Drug Discov       Date:  2015-06-26       Impact factor: 84.694

8.  Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.

Authors:  Heng F Seow; Stefan Bröer; Angelika Bröer; Charles G Bailey; Simon J Potter; Juleen A Cavanaugh; John E J Rasko
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

9.  Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Authors:  B L Callewaert; A Willaert; W S Kerstjens-Frederikse; J De Backer; K Devriendt; B Albrecht; M A Ramos-Arroyo; M Doco-Fenzy; R C M Hennekam; R E Pyeritz; O N Krogmann; G Gillessen-kaesbach; E L Wakeling; S Nik-zainal; C Francannet; P Mauran; C Booth; M Barrow; R Dekens; B L Loeys; P J Coucke; A M De Paepe
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

10.  Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Authors:  Khadim Shah; Raja Hussain Ali; Muhammad Ansar; Kwanghyuk Lee; Muhammad Salman Chishti; Izoduwa Abbe; Biao Li; Joshua D Smith; Deborah A Nickerson; Jay Shendure; Paul J Coucke; Wouter Steyaert; Michael J Bamshad; Regie Lyn P Santos-Cortez; Suzanne M Leal; Wasim Ahmad
Journal:  BMC Med Genet       Date:  2016-02-16       Impact factor: 2.103
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  3 in total

Review 1.  Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Authors:  Ferdinando Palmieri; Pasquale Scarcia; Magnus Monné
Journal:  Biomolecules       Date:  2020-04-23

2.  A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs.

Authors:  G Diane Shelton; Katie M Minor; Kefeng Li; Jane C Naviaux; Jon Monk; Lin Wang; Elizabeth Guzik; Ling T Guo; Vito Porcelli; Ruggiero Gorgoglione; Francesco M Lasorsa; Peter J Leegwater; Antonio M Persico; James R Mickelson; Luigi Palmieri; Robert K Naviaux
Journal:  J Neuromuscul Dis       Date:  2019

3.  First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report.

Authors:  Mirsajjad Mousavi-Asl Germeh Cheshmeh; Ali Najizadeh; Saied Hosseini-Asl; Hooshang Zaimkohan; Roshanak Jazayeri
Journal:  Iran J Public Health       Date:  2019-07       Impact factor: 1.429
  3 in total

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