Literature DB >> 27885487

Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis.

Anup Arunrao Deshpande1, Rajan Ravichandran2, Anand Kumar Bachhawat3.   

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Year:  2016        PMID： 27885487     DOI： 10.1007/s12098-016-2257-1

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  4 in total

1.  Common mutation causes cystinosis in the majority of black South African patients.

Authors:  E Patricia Owen; Jenisha Nandhlal; Felicity Leisegang; George Van der Watt; Peter Nourse; Priya Gajjar
Journal:  Pediatr Nephrol       Date:  2014-10-18       Impact factor: 3.714

2.  Characterization of CTNS mutations in Arab patients with cystinosis.

Authors:  Mohammed A Aldahmesh; Amal Humeidan; Hamad A Almojalli; Arif O Khan; Mohammed Rajab; Abbas A AL-Abbad; Brian F Meyer; Fowzan S Alkuraya
Journal:  Ophthalmic Genet       Date:  2009-12       Impact factor: 1.803

3.  Nephropathic cystinosis: an international consensus document.

Authors:  Francesco Emma; Galina Nesterova; Craig Langman; Antoine Labbé; Stephanie Cherqui; Paul Goodyer; Mirian C Janssen; Marcella Greco; Rezan Topaloglu; Ewa Elenberg; Ranjan Dohil; Doris Trauner; Corinne Antignac; Pierre Cochat; Frederick Kaskel; Aude Servais; Elke Wühl; Patrick Niaudet; William Van't Hoff; William Gahl; Elena Levtchenko
Journal:  Nephrol Dial Transplant       Date:  2014-09       Impact factor: 5.992

4.  Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Authors:  Vasiliki Kalatzis; Nathalie Nevo; Stéphanie Cherqui; Bruno Gasnier; Corinne Antignac
Journal:  Hum Mol Genet       Date:  2004-05-05       Impact factor: 6.150
  4 in total
  1 in total

1.  A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin.

Authors:  Anup Arunrao Deshpande; Anuj Shukla; Anand Kumar Bachhawat
Journal:  Sci Rep       Date:  2018-02-21       Impact factor: 4.379
  1 in total

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