Literature DB >> 24045844

Clinical utility gene card for: cystinosis.

Elena Levtchenko1, Lambertus van den Heuvel2, Francesco Emma3, Corinne Antignac4.   

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Year:  2013        PMID： 24045844      PMCID： PMC3992566          DOI： 10.1038/ejhg.2013.204

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  23 in total

Review 1.  First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.

Authors:  Robert Kleta; Frederick Kaskel; Ranjan Dohil; Paul Goodyer; Lisa M Guay-Woodford; Erik Harms; Julie R Ingelfinger; Vera H Koch; Craig B Langman; Mary B Leonard; Roslyn B Mannon; Minnie Sarwal; Jerry A Schneider; Flemming Skovby; Barbara C Sonies; Jess G Thoene; Doris A Trauner; William A Gahl
Journal:  Pediatr Nephrol       Date:  2005-01-27       Impact factor: 3.714

2.  The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

Authors:  C Phornphutkul; Y Anikster; M Huizing; P Braun; C Brodie; J Y Chou; W A Gahl
Journal:  Am J Hum Genet       Date:  2001-08-14       Impact factor: 11.025

Review 3.  Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Authors:  W A Gahl; E M Kuehl; F Iwata; A Lindblad; M I Kaiser-Kupfer
Journal:  Mol Genet Metab       Date:  2000 Sep-Oct       Impact factor: 4.797

4.  Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Authors:  L Forestier; G Jean; M Attard; S Cherqui; C Lewis; W van't Hoff; M Broyer; M Town; C Antignac
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

5.  A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Authors:  M Town; G Jean; S Cherqui; M Attard; L Forestier; S A Whitmore; D F Callen; O Gribouval; M Broyer; G P Bates; W van't Hoff; C Antignac
Journal:  Nat Genet       Date:  1998-04       Impact factor: 38.330

6.  Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

Authors:  Vasiliki Kalatzis; Lola Cohen-Solal; Béatrice Cordier; Yaacov Frishberg; Markus Kemper; E Matti Nuutinen; Eric Legrand; Pierre Cochat; Corinne Antignac
Journal:  Hum Mutat       Date:  2002-12       Impact factor: 4.878

7.  Improved renal function in children with cystinosis treated with cysteamine.

Authors:  T C Markello; I M Bernardini; W A Gahl
Journal:  N Engl J Med       Date:  1993-04-22       Impact factor: 91.245

8.  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

9.  Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

Authors:  Mirjam M C Wamelink; Eduard A Struys; Erwin E W Jansen; Elena N Levtchenko; Fokje S M Zijlstra; Udo Engelke; Henk J Blom; Cornelis Jakobs; Ron A Wevers
Journal:  Hum Mutat       Date:  2008-04       Impact factor: 4.878

10.  Mutational spectrum of the CTNS gene in Italy.

Authors:  Silvia Mason; Guglielmina Pepe; Roberto Dall'Amico; Sara Tartaglia; Stefania Casciani; Marcella Greco; Paola Bencivenga; Luisa Murer; Gianfranco Rizzoni; Romano Tenconi; Maurizio Clementi
Journal:  Eur J Hum Genet       Date:  2003-07       Impact factor: 4.246
View more
  10 in total

1.  Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.

Authors:  Emma Hector; Donald Cairns; G Michael Wall
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303

2.  Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.

Authors:  Ahmed Reda; Ann Van Schepdael; Erwin Adams; Prasanta Paul; David Devolder; Mohamed A Elmonem; Koenraad Veys; Ingele Casteels; Lambertus van den Heuvel; Elena Levtchenko
Journal:  JIMD Rep       Date:  2017-12-07

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.  Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge.

Authors:  Bobbity Deepthi; Sriram Krishnamurthy; Pediredla Karunakar; Gowrishankar Barathidasan; Thiagarajan Narayanasamy Rajavelu
Journal:  CEN Case Rep       Date:  2022-01-20

5.  Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient.

Authors:  Antonella Conforti; Anna Taranta; Simone Biagini; Nadia Starc; Angela Pitisci; Francesco Bellomo; Valentina Cirillo; Franco Locatelli; Maria Ester Bernardo; Francesco Emma
Journal:  J Transl Med       Date:  2015-05-07       Impact factor: 5.531

6.  First report of CTNS mutations in a Chinese family with infantile cystinosis.

Authors:  Yong-jia Yang; Yuan Hu; Rui Zhao; Xinyu He; Liu Zhao; Ming Tu; Lijun Zhou; Jihong Guo; Linqian Wu; Tantai Zhao; Yi-min Zhu
Journal:  ScientificWorldJournal       Date:  2015-03-17

Review 7.  Improving the prognosis of nephropathic cystinosis.

Authors:  Martine Tp Besouw; Elena N Levtchenko
Journal:  Int J Nephrol Renovasc Dis       Date:  2014-07-17

Review 8.  Cystinosis: a review.

Authors:  Mohamed A Elmonem; Koenraad R Veys; Neveen A Soliman; Maria van Dyck; Lambertus P van den Heuvel; Elena Levtchenko
Journal:  Orphanet J Rare Dis       Date:  2016-04-22       Impact factor: 4.123

9.  Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report.

Authors:  Hala A Helmi; Jeylan El Mansoury; Selwa Al Hazzaa; Abdulaziz Al Zoba; Qais S Dirar
Journal:  Am J Case Rep       Date:  2019-09-04

10.  CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

Authors:  Svetlana Papizh; Victoria Serzhanova; Alexandra Filatova; Mikhail Skoblov; Vyacheslav Tabakov; Lambert van den Heuvel; Elena Levtchenko; Larisa Prikhodina
Journal:  BMC Nephrol       Date:  2019-10-31       Impact factor: 2.388
  10 in total

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