Literature DB >> 23374899

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita.

Neil J Wilson, C David Hansen, Dilek Azkur, Can N Kocabas, Ayse Metin, Zeynep Coskun, Mary E Schwartz, Peter R Hull, W H Irwin McLean, Frances J D Smith.   

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Year:  2013        PMID： 23374899     DOI： 10.1016/j.jdermsci.2012.12.005

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  10 in total

Review 1.  Frizzled Receptors in Development and Disease.

Authors:  Yanshu Wang; Hao Chang; Amir Rattner; Jeremy Nathans
Journal:  Curr Top Dev Biol       Date:  2016-01-27       Impact factor: 4.897

2.  Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Authors:  Carin L Yates; Kristin G Monaghan; Deborah Copenheaver; Kyle Retterer; Julie Scuffins; Cathlin R Kucera; Bethany Friedman; Gabriele Richard; Jane Juusola
Journal:  Genet Med       Date:  2017-04-20       Impact factor: 8.822

3.  The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Authors:  N J Wilson; E A O'Toole; L M Milstone; C D Hansen; A A Shepherd; E Al-Asadi; M E Schwartz; W H I McLean; E Sprecher; F J D Smith
Journal:  Br J Dermatol       Date:  2014-08-06       Impact factor: 9.302

Review 4.  Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Authors:  C Kasparis; D Reid; N J Wilson; V Okur; C Cole; C D Hansen; K Bosse; R C Betz; M Khan; F J D Smith
Journal:  Clin Exp Dermatol       Date:  2016-10-27       Impact factor: 3.470

5.  Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism.

Authors:  Frances J D Smith; W H Irwin McLean
Journal:  J Dermatol       Date:  2017-08-16       Impact factor: 4.005

6.  Planar cell polarity genes frizzled4 and frizzled6 exert patterning influence on arterial vessel morphogenesis.

Authors:  Rene Markovič; Julien Peltan; Marko Gosak; Denis Horvat; Borut Žalik; Benjamin Seguy; Remi Chauvel; Gregoire Malandain; Thierry Couffinhal; Cécile Duplàa; Marko Marhl; Etienne Roux
Journal:  PLoS One       Date:  2017-03-02       Impact factor: 3.240

Review 7.  The role of GPCRs in bone diseases and dysfunctions.

Authors:  Jian Luo; Peng Sun; Stefan Siwko; Mingyao Liu; Jianru Xiao
Journal:  Bone Res       Date:  2019-07-08       Impact factor: 13.567

8.  A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

Authors:  Ceren Saygı; Yasemin Alanay; Uğur Sezerman; Aslı Yenenler; Nesrin Özören
Journal:  BMC Med Genet       Date:  2019-01-14       Impact factor: 2.103

9.  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

10.  Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting.

Authors:  Maurice A M van Steensel; Pierre A Coulombe; Roger L Kaspar; Leonard M Milstone; Irwin W H McLean; Dennis R Roop; Frances J D Smith; Eli Sprecher; Mary E Schwartz
Journal:  J Invest Dermatol       Date:  2014-03       Impact factor: 8.551
  10 in total

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