Literature DB >> 21677404

Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

Zoran Gucev1, Nadica Ristoska-Bojkovska, Katerina Popovska-Jankovic, Emilija Sukarova-Stefanovska, Velibor Tasic, Dijana Plaseska-Karanfilska, Georgi D Efremov.   

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Year:  2011        PMID： 21677404     DOI： 10.1007/s12041-011-0045-2

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  11 in total

1.  Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

Authors:  Zuzana Skopková; Eva Hrabincová; Sylvie Stástná; Libor Kozák; Tomás Adam
Journal:  Ann Hum Genet       Date:  2005-09       Impact factor: 1.670

2.  Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

Authors:  L Harnevik; E Fjellstedt; A Molbaek; H G Tiselius; T Denneberg; P Söderkvist
Journal:  Hum Mutat       Date:  2001-12       Impact factor: 4.878

3.  Cystinuria: genetic heterogeneity and allelism.

Authors:  L E Rosenberg
Journal:  Science       Date:  1966-12-09       Impact factor: 47.728

4.  New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

Authors:  M Font-Llitjós; M Jiménez-Vidal; L Bisceglia; M Di Perna; L de Sanctis; F Rousaud; L Zelante; M Palacín; V Nunes
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

5.  Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

Authors:  Elke Botzenhart; Udo Vester; Christa Schmidt; Albrecht Hesse; Marc Halber; Carsten Wagner; Florian Lang; Peter Hoyer; Klaus Zerres; Thomas Eggermann
Journal:  Kidney Int       Date:  2002-10       Impact factor: 10.612

6.  Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Authors:  Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis; Orazio Palumbo; Bartolomeo Augello; Pietro Stanziale; Massimo Carella; Leopoldo Zelante
Journal:  Mol Genet Metab       Date:  2010-01       Impact factor: 4.797

7.  Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

Authors:  Michele Di Perna; Eirini Louizou; Lucia Fischetti; George V Z Dedoussis; Pietro Stanziale; Helen Michelakakis; Leopoldo Zelante; Elon Pras; Luigi Bisceglia
Journal:  Genet Test       Date:  2008-09

8.  Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

Authors:  M A Font; L Feliubadaló; X Estivill; V Nunes; E Golomb; Y Kreiss; E Pras; L Bisceglia; A P d'Adamo; L Zelante; P Gasparini; M T Bassi; A L George ; M Manzoni; M Riboni; A Ballabio; G Borsani; N Reig; E Fernández; A Zorzano; J Bertran; M Palacín
Journal:  Hum Mol Genet       Date:  2001-02-15       Impact factor: 6.150

9.  Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

Authors:  L Bisceglia; M J Calonge; L Dello Strologo; G Rizzoni; L de Sanctis; M Gallucci; E Beccia; X Testar; A Zorzano; X Estivill; L Zelante; M Palacin; P Gasparini; V Nunes
Journal:  Hum Genet       Date:  1996-10       Impact factor: 4.132

10.  Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Authors:  Luca Dello Strologo; Elon Pras; Claudia Pontesilli; Ercole Beccia; Vittorino Ricci-Barbini; Luisa de Sanctis; Alberto Ponzone; Michele Gallucci; Luigi Bisceglia; Leopoldo Zelante; Maite Jimenez-Vidal; Mariona Font; Antonio Zorzano; Ferran Rousaud; Virginia Nunes; Paolo Gasparini; Manuel Palacín; Gianfranco Rizzoni
Journal:  J Am Soc Nephrol       Date:  2002-10       Impact factor: 10.121
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  4 in total

1.  Molecular characterization of cystinuria in south-eastern European countries.

Authors:  Katerina Popovska-Jankovic; Velibor Tasic; Radovan Bogdanovic; Predrag Miljkovic; Emilija Golubovic; Alper Soylu; Marjan Saraga; Snezana Pavicevic; Esra Baskin; Ipek Akil; Alojz Gregoric; Marusia Lilova; Rezan Topaloglu; Emilija Sukarova Stefanovska; Dijana Plaseska-Karanfilska
Journal:  Urolithiasis       Date:  2012-12-27       Impact factor: 3.436

Review 2.  Cystinuria-a urologist's perspective.

Authors:  Kay Thomas; Kathie Wong; John Withington; Matthew Bultitude; Angela Doherty
Journal:  Nat Rev Urol       Date:  2014-03-25       Impact factor: 14.432

3.  Digenic Inheritance in Cystinuria Mouse Model.

Authors:  Meritxell Espino; Mariona Font-Llitjós; Clara Vilches; Eduardo Salido; Esther Prat; Miguel López de Heredia; Manuel Palacín; Virginia Nunes
Journal:  PLoS One       Date:  2015-09-11       Impact factor: 3.240

4.  Predicting disease-causing variant combinations.

Authors:  Sofia Papadimitriou; Andrea Gazzo; Nassim Versbraegen; Charlotte Nachtegael; Jan Aerts; Yves Moreau; Sonia Van Dooren; Ann Nowé; Guillaume Smits; Tom Lenaerts
Journal:  Proc Natl Acad Sci U S A       Date:  2019-05-24       Impact factor: 11.205
  4 in total

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