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Genetics

The Genetics section considers both interventional and non-interventional clinical research studies, including controlled trials, case control studies, and basic experimental research. This section does not consider large epidemiological studies, or case reports. Systematic reviews and meta-analyses should be directed to the Epidemiology and Health Outcomes section, and case reports should be directed to our dedicated Case Reports section. 

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  1. Balkan endemic nephropathy (BEN) represents a chronic progressive interstitial nephritis in striking correlation with uroepithelial tumours of the upper urinary tract. The disease has endemic distribution in t...

    Authors: Rada Staneva, Blaga Rukova, Savina Hadjidekova, Desislava Nesheva, Olga Antonova, Plamen Dimitrov, Valeri Simeonov, Georgi Stamenov, Rade Cukuranovic, Jovana Cukuranovic, Vladislav Stefanovic, Momir Polenakovic, Ivanka Dimova, Ruslan Hlushchuk, Valentin Djonov, Angel Galabov…

    Citation: BMC Nephrology 2013 14:225

    Content type: Research article

    Published on:

  2. To investigate gene expression of podocyte-specific proteins in urine of diabetes and prediabetes subjects and the association of these proteins with albuminuria.

    Authors: Jonathan Fraportti do Nascimento, Luis H Canani, Fernando Gerchman, Patricia G Rodrigues, Gabriel Joelsons, Mariane dos Santos, Sane Pereira and Francisco V Veronese

    Citation: BMC Nephrology 2013 14:214

    Content type: Research article

    Published on:

  3. HUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis. This syndrome was previously described in three patients with a ho...

    Authors: Henry Rivera, Elena Martín-Hernández, Aitor Delmiro, María Teresa García-Silva, Pilar Quijada-Fraile, Rafael Muley, Joaquín Arenas, Miguel A Martín and Francisco Martínez-Azorín

    Citation: BMC Nephrology 2013 14:195

    Content type: Case report

    Published on:

  4. Polycystic kidney diseases (PKD) are a group of monogenic disorders that are inherited dominantly (autosomal dominant PKD; ADPKD) or recessively, including, autosomal recessive PKD (ARPKD). A number of recessi...

    Authors: Reza Vazifehmand, Sandro Rossetti, Sassan Saber, Hamid Reza Khorram Khorshid and Peter C Harris

    Citation: BMC Nephrology 2013 14:190

    Content type: Case report

    Published on:

  5. Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for thi...

    Authors: Shoji Tsuji, Miyoko Yamashita, Gen Unishi, Reiko Takewa, Takahisa Kimata, Kiyoshi Isobe, Motoko Chiga, Shinichi Uchida and Kazunari Kaneko

    Citation: BMC Nephrology 2013 14:166

    Content type: Case report

    Published on:

  6. Recurrent episodes of venous thrombosis have been closely correlated with JAK2 V617F mutation. Upto date, JAK2 gene mutation has not been defined as a prothrombic risk factor in renal transplant recipients. He...

    Authors: Erhan Tatar, Adam Uslu, Ahmet Aykas, Funda Tasli, Ozgur Oztekin and Gulsum Akgun Cagliyan

    Citation: BMC Nephrology 2013 14:161

    Content type: Case report

    Published on:

  7. Renal interstitial fibrosis and glomerular sclerosis are hallmarks of diabetic nephropathy (DN) and several studies have implicated members of the WNT pathways in these pathological processes. This study compr...

    Authors: David H Kavanagh, David A Savage, Christopher C Patterson, Amy Jayne McKnight, John K Crean, Alexander P Maxwell and Gareth J McKay

    Citation: BMC Nephrology 2013 14:126

    Content type: Research article

    Published on:

  8. Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila ...

    Authors: Maddalena Gigante, Marilena d’Altilia, Eustacchio Montemurno, Sterpeta Diella, Francesca Bruno, Giuseppe S Netti, Elena Ranieri, Giovanni Stallone, Barbara Infante, Giuseppe Grandaliano and Loreto Gesualdo

    Citation: BMC Nephrology 2013 14:60

    Content type: Case report

    Published on:

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As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time. Thank you.

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