Literature DB >> 18392643

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome.

Konstantinos Voskarides, Christiana Makariou, Gregory Papagregoriou, Nicolaos Stergiou, Nicoletta Printza, Efstathios Alexopoulos, Avraam Elia, Fotis Papachristou, Alkis Pierides, Eleni Georgaki, Constantinos Deltas.   

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Year:  2008        PMID： 18392643     DOI： 10.1007/s00467-008-0804-3

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  9 in total

1.  Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

Authors:  Bettina Mucha; Fatih Ozaltin; Bernward G Hinkes; Katrin Hasselbacher; Rainer G Ruf; Michael Schultheiss; Daniela Hangan; Bethan E Hoskins; Anne Schulze Everding; Radovan Bogdanovic; Thomas Seeman; Bernd Hoppe; Friedhelm Hildebrandt
Journal:  Pediatr Res       Date:  2006-02       Impact factor: 3.756

2.  Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.

Authors:  Z Birsin Ozçakar; F Başak Cengiz; Nilgün Cakar; Nermin Uncu; Nazli Kara; Banu Acar; Selçuk Yüksel; Mesiha Ekim; Mustafa Tekin; Fatoş Yalçinkaya
Journal:  Pediatr Nephrol       Date:  2006-06-30       Impact factor: 3.714

3.  Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.

Authors:  Arno Fuchshuber; Olivier Gribouval; Vera Ronner; Sabine Kroiss; Stephanie Karle; Matthias Brandis; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2001-02       Impact factor: 10.121

4.  NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Authors:  N Boute; O Gribouval; S Roselli; F Benessy; H Lee; A Fuchshuber; K Dahan; M C Gubler; P Niaudet; C Antignac
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

5.  Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

Authors:  Gianluca Caridi; Roberta Bertelli; Alba Carrea; Marco Di Duca; Paolo Catarsi; Mary Artero; Michele Carraro; Cristina Zennaro; Giovanni Candiano; Luca Musante; Marco Seri; Fabrizio Ginevri; Francesco Perfumo; Gian Marco Ghiggeri
Journal:  J Am Soc Nephrol       Date:  2001-12       Impact factor: 10.121

6.  Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.

Authors:  K Schwarz; M Simons; J Reiser; M A Saleem; C Faul; W Kriz; A S Shaw; L B Holzman; P Mundel
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

7.  Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Authors:  Rainer G Ruf; Anne Lichtenberger; Stephanie M Karle; Johannes P Haas; Franzisco E Anacleto; Michael Schultheiss; Isabella Zalewski; Anita Imm; Eva-Maria Ruf; Bettina Mucha; Arvind Bagga; Thomas Neuhaus; Arno Fuchshuber; Aysin Bakkaloglu; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2004-03       Impact factor: 10.121

8.  COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.

Authors:  Konstantinos Voskarides; Loukas Damianou; Vassos Neocleous; Ioanna Zouvani; Stalo Christodoulidou; Valsamakis Hadjiconstantinou; Kyriacos Ioannou; Yiannis Athanasiou; Charalampos Patsias; Efstathios Alexopoulos; Alkis Pierides; Kyriacos Kyriacou; Constantinos Deltas
Journal:  J Am Soc Nephrol       Date:  2007-10-17       Impact factor: 10.121

Review 9.  NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Authors:  Nora Franceschini; Kari E North; Jeffrey B Kopp; Louise McKenzie; Cheryl Winkler
Journal:  Genet Med       Date:  2006-02       Impact factor: 8.822
  9 in total
  5 in total

1.  Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

Authors:  Kálmán Tory; Dóra K Menyhárd; Stéphanie Woerner; Fabien Nevo; Olivier Gribouval; Andrea Kerti; Pál Stráner; Christelle Arrondel; Evelyne Huynh Cong; Tivadar Tulassay; Géraldine Mollet; András Perczel; Corinne Antignac
Journal:  Nat Genet       Date:  2014-02-09       Impact factor: 38.330

2.  Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.

Authors:  Konstantinos Voskarides; Constantinos Deltas
Journal:  J Mol Diagn       Date:  2009-06-12       Impact factor: 5.568

3.  Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Authors:  Louiza Papazachariou; Panayiota Demosthenous; Myrtani Pieri; Gregory Papagregoriou; Isavella Savva; Christoforos Stavrou; Michael Zavros; Yiannis Athanasiou; Kyriakos Ioannou; Charalambos Patsias; Alexia Panagides; Costas Potamitis; Kyproula Demetriou; Marios Prikis; Michael Hadjigavriel; Maria Kkolou; Panayiota Loukaidou; Androulla Pastelli; Aristos Michael; Akis Lazarou; Maria Arsali; Loukas Damianou; Ioanna Goutziamani; Andreas Soloukides; Lakis Yioukas; Avraam Elia; Ioanna Zouvani; Polycarpos Polycarpou; Alkis Pierides; Konstantinos Voskarides; Constantinos Deltas
Journal:  PLoS One       Date:  2014-12-16       Impact factor: 3.240

4.  A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis.

Authors:  Jiaojiao Fan; Rong Fu; Fuxian Ren; Junjie He; Shujing Wang; Mengfan Gou
Journal:  Medicine (Baltimore)       Date:  2018-09       Impact factor: 1.817

5.  A rapid identification technique for drug-resistant Mycobacterium tuberculosis isolates using mismatch specific cleavage enzyme.

Authors:  Luis Jaramillo; David Tarazona; Kelly Levano; Marco Galarza; Omar Caceres; Maximilian Becker; Heinner Guio
Journal:  Bioinformation       Date:  2018-07-31
  5 in total

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