Literature DB >> 24232312

Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5.

S Vaz-Pereira1, K Dansingani2, G E Holder2, A R Webster3.   

Abstract

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Year:  2013        PMID： 24232312      PMCID： PMC3890770          DOI： 10.1038/eye.2013.247

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  5 in total

Review 1.  Ion channels in the RPE.

Authors:  Sönke Wimmers; Mike O Karl; Olaf Strauss
Journal:  Prog Retin Eye Res       Date:  2007-01-26       Impact factor: 21.198

Review 2.  Calcium-activated chloride channels in the retina.

Authors:  Mélanie R Lalonde; Melanie E Kelly; Steven Barnes
Journal:  Channels (Austin)       Date:  2008-07-30       Impact factor: 2.581

3.  Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

Authors:  Véronique Bolduc; Gareth Marlow; Kym M Boycott; Khalil Saleki; Hiroshi Inoue; Johan Kroon; Mitsuo Itakura; Yves Robitaille; Lucie Parent; Frank Baas; Kuniko Mizuta; Nobuyuki Kamata; Isabelle Richard; Wim H J P Linssen; Ibrahim Mahjneh; Marianne de Visser; Rumaisa Bashir; Bernard Brais
Journal:  Am J Hum Genet       Date:  2010-01-21       Impact factor: 11.025

Review 4.  Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels.

Authors:  H Criss Hartzell; Kuai Yu; Qinhuan Xiao; Li-Ting Chien; Zhiqiang Qu
Journal:  J Physiol       Date:  2008-11-17       Impact factor: 5.182

5.  A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Authors:  Debbie Hicks; Anna Sarkozy; Nuria Muelas; Katrin Köehler; Angela Huebner; Gavin Hudson; Patrick F Chinnery; Rita Barresi; Michelle Eagle; Tuomo Polvikoski; Geraldine Bailey; James Miller; Aleksander Radunovic; Paul J Hughes; Richard Roberts; Sabine Krause; Maggie C Walter; Steven H Laval; Volker Straub; Hanns Lochmüller; Kate Bushby
Journal:  Brain       Date:  2011-01       Impact factor: 13.501
  5 in total
  1 in total

1.  A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

Authors:  Jing Xu; Li Xu; Yeh S Lau; Yandi Gao; Steven A Moore; Renzhi Han
Journal:  J Pathol Clin Res       Date:  2018-03-01
  1 in total

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