Literature DB >> 24071003

The interface of genetics with pathology in alport nephritis.

Helen Liapis1, Sanjay Jain.   

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Year:  2013        PMID： 24071003      PMCID： PMC3839561          DOI： 10.1681/ASN.2013080913

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


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  12 in total

1.  COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Authors:  Helen Storey; Judy Savige; Vanessa Sivakumar; Stephen Abbs; Frances A Flinter
Journal:  J Am Soc Nephrol       Date:  2013-09-19       Impact factor: 10.121

Review 2.  Alport syndrome--insights from basic and clinical research.

Authors:  Jenny Kruegel; Diana Rubel; Oliver Gross
Journal:  Nat Rev Nephrol       Date:  2012-11-20       Impact factor: 28.314

3.  Plasma leakage through glomerular basement membrane ruptures triggers the proliferation of parietal epithelial cells and crescent formation in non-inflammatory glomerular injury.

Authors:  Mi Ryu; Adriana Migliorini; Nicolai Miosge; Oliver Gross; Stuart Shankland; Paul T Brinkkoetter; Henning Hagmann; Paola Romagnani; Helen Liapis; Hans-Joachim Anders
Journal:  J Pathol       Date:  2012-07-26       Impact factor: 7.996

4.  Advances in Alport syndrome diagnosis using next-generation sequencing.

Authors:  Rosangela Artuso; Chiara Fallerini; Laura Dosa; Francesca Scionti; Maurizio Clementi; Guido Garosi; Laura Massella; Maria Carmela Epistolato; Roberta Mancini; Francesca Mari; Ilaria Longo; Francesca Ariani; Alessandra Renieri; Mirella Bruttini
Journal:  Eur J Hum Genet       Date:  2011-09-07       Impact factor: 4.246

5.  X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Authors:  Jean Philippe Jais; Bertrand Knebelmann; Iannis Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; Manfred Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; Karin Dahan; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; Paula Martin; Jens Michael Hertz; Cornelis Schröder; Marek Sanak; Maria Fernanda Carvalho; Juan Saus; Corinne Antignac; Hubert Smeets; Marie Claire Gubler
Journal:  J Am Soc Nephrol       Date:  2003-10       Impact factor: 10.121

6.  Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants.

Authors:  Helen Liapis; Neriman Gökden; Paul Hmiel; Jeffrey H Miner
Journal:  Hum Pathol       Date:  2002-08       Impact factor: 3.466

7.  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 8.  The renal biopsy in the genomic era.

Authors:  Helen Liapis; Joseph P Gaut
Journal:  Pediatr Nephrol       Date:  2012-11-21       Impact factor: 3.714

Review 9.  Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy.

Authors:  Clifford E Kashtan
Journal:  Curr Opin Pediatr       Date:  2004-04       Impact factor: 2.856

10.  Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative.

Authors:  Clifford E Kashtan; Jie Ding; Martin Gregory; Oliver Gross; Laurence Heidet; Bertrand Knebelmann; Michelle Rheault; Christoph Licht
Journal:  Pediatr Nephrol       Date:  2012-03-30       Impact factor: 3.714
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  2 in total

1.  Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.

Authors:  Joseph P Gaut; Sanjay Jain; John D Pfeifer; Katinka A Vigh-Conrad; Meagan Corliss; Mukesh K Sharma; Jonathan W Heusel; Catherine E Cottrell
Journal:  Mod Pathol       Date:  2017-07-28       Impact factor: 7.842

2.  Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.

Authors:  Yongzhen Li; Ying Wang; Qingnan He; Xiqiang Dang; Yan Cao; Xiaochuan Wu; Shuanghong Mo; Xiaoxie He; Zhuwen Yi
Journal:  Mol Med Rep       Date:  2017-11-10       Impact factor: 2.952
  2 in total

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