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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. 

  1. Content type: Research article

    The challenges in diagnosis of rare renal conditions can negatively impact patient prognosis, quality of life and result in significant healthcare costs. Differential methylation is emerging as an important bi...

    Authors: Katie Kerr, Helen McAneney, Cheryl Flanagan, Alexander P. Maxwell and Amy Jayne McKnight

    Citation: BMC Nephrology 2019 20:320

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  2. Content type: Research article

    Approximately 30% of Persian cats have a c.10063C > A variant in polycystin 1 (PKD1) homolog causing autosomal dominant polycystic kidney disease (ADPKD). The variant is lethal in utero when in the homozygous sta...

    Authors: Yoshihiko Yu, Kate L. Shumway, Jodi S. Matheson, Marie E. Edwards, Timothy L. Kline and Leslie A. Lyons

    Citation: BMC Nephrology 2019 20:259

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  3. Content type: Research article

    Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most...

    Authors: Lauren E. Woodard, Richard C. Welch, Ruth Ann Veach, Thomas M. Beckermann, Feng Sha, Edward J. Weinman, Talat Alp Ikizler, Jay A. Tischfield, Amrik Sahota and Matthew H. Wilson

    Citation: BMC Nephrology 2019 20:227

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  4. Content type: Research article

    Infection is the second most common cause of mortality for patients with end-stage renal disease (ESRD), accompanying with immune dysfunction. Endothelin (EDN) is known to be related to inflammation; however, it ...

    Authors: Chih-Chin Kao, Shih-Ying Cheng, Yu-Jia Wang, Shu-Chen Chien, Yu-Wen Hsu, Mei-Yi Wu, Hsing-Fang Lu, Sean Nam, Tao Sun, Mai-Szu Wu and Wei-Chiao Chang

    Citation: BMC Nephrology 2019 20:203

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  5. Content type: Research article

    Interleukin 17 is a proinflammatory cytokine involved in immune response after allograft transplantation. IL-17 family of proinflammatory cytokines includes IL-17A and IL-17F. Previous studies have demonstrated t...

    Authors: Leszek Domanski, Karolina Kłoda, Maciej Patrzyk, Magda Wisniewska, Krzysztof Safranow, Jerzy Sienko, Tadeusz Sulikowski, Marzena Staniszewska and Andrzej Pawlik

    Citation: BMC Nephrology 2019 20:124

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  6. Content type: Research article

    Alport syndrome is a clinically heterogeneous nephropathy characterized by severe symptomatology at kidney level due to ultrastructural lesions of the glomerular basement membrane (GBM) as consequence of mutat...

    Authors: S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri and A. M. Pinto

    Citation: BMC Nephrology 2019 20:70

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  7. Content type: Research article

    Congenital nephrotic syndrome (CNS) is characterised by increased proteinuria, hypoproteinemia, and edema beginning in the first 3 months of life. Recently, molecular genetic studies have identified several ge...

    Authors: Guo-min Li, Qi Cao, Qian Shen, Li Sun, Yi-hui Zhai, Hai-mei Liu, Yu An and Hong Xu

    Citation: BMC Nephrology 2018 19:382

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  8. Content type: Research article

    Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised. We aimed to establish the prevalence of genetic ki...

    Authors: Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis and G. Venkat-Raman

    Citation: BMC Nephrology 2018 19:301

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  9. Content type: Research article

    Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative. The SLC3A1/rB...

    Authors: Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth and Thomas Eggermann

    Citation: BMC Nephrology 2018 19:278

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  10. Content type: Research article

    Substrate reduction therapy with analogs reduces the accumulation of substrates by inhibiting the metabolic pathways involved in their biosynthesis, providing new treatment options for patients with primary hy...

    Authors: Huan Yang, Musa Male, Yang Li, Ning Wang, Chenming Zhao, Shan Jin, Juncheng Hu, Zhiqiang Chen, Zhangqun Ye and Hua Xu

    Citation: BMC Nephrology 2018 19:167

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  11. Content type: Research article

    About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the ...

    Authors: Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides and Constantinos Deltas

    Citation: BMC Nephrology 2018 19:114

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  12. Content type: Research article

    Genome wide association studies of patients with European descent have identified common variants associated with risk of reduced estimated glomerular filtration rate (eGFR). A panel of eight variants were sel...

    Authors: Cyril Cyrus, Samir Al-Mueilo, Chittibabu Vatte, Shahanas Chathoth, Yun R. Li, Hatem Qutub, Rudaynah Al Ali, Fahad Al-Muhanna, Matthew B. Lanktree, Khaled Riyad Alkharsah, Abdullah Al-Rubaish, Brian Kim-Mozeleski, Brendan Keating and Amein Al Ali

    Citation: BMC Nephrology 2018 19:88

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  13. Content type: Research article

    It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented...

    Authors: Ying Bai, Yibing Chen and Xiangdong Kong

    Citation: BMC Nephrology 2018 19:26

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  14. Content type: Research article

    Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis wi...

    Authors: Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo and Kazumoto Iijima

    Citation: BMC Nephrology 2017 18:353

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  15. Content type: Research article

    Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated...

    Authors: C. Cervera-Acedo, A. Coloma, E. Huarte-Loza, M. Sierra-Carpio and E. Domínguez-Garrido

    Citation: BMC Nephrology 2017 18:325

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  16. Content type: Research article

    Cardiovascular (CV) complications are the main cause of death in end-stage renal disease (ESRD) patients. The high CV risks are attributable to the additive effects of multiple factors. Endothelin (EDN) is a p...

    Authors: Chih-Chin Kao, Shih-Ying Cheng, Mei-Yi Wu, Shu-Chen Chien, Hsing-Fang Lu, Yu-Wen Hsu, Yan-Feng Zhang, Mai-Szu Wu and Wei-Chiao Chang

    Citation: BMC Nephrology 2017 18:291

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  17. Content type: Research article

    Cisplatin (CP) is commonly used in the treatment of different types of cancer but nephrotoxicity has been a major limiting factor. Therefore, the present study aimed to study the possible protective effect of ...

    Authors: Ali R. Alhoshani, Mohamed M. Hafez, Sufia Husain, Abdel Malek Al-sheikh, Moureq R. Alotaibi, Salim S. Al Rejaie, Musaad A. Alshammari, Mashal M. Almutairi and Othman A. Al-Shabanah

    Citation: BMC Nephrology 2017 18:194

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  18. Content type: Research article

    Septic acute kidney injury affects 40–50% of all septic patients. Molecular differences between septic patients with and without acute kidney injury (AKI) are only poorly understood. Here, we investigated gene...

    Authors: Martin Matejovic, Lenka Valesova, Jan Benes, Roman Sykora, Roman Hrstka and Jiri Chvojka

    Citation: BMC Nephrology 2017 18:183

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  19. Content type: Research article

    Circulating pro-inflammatory cytokines were associated with increased relative mortality risk, while immune parameters reflecting improved T-cell function were predictors of survival in hemodialysis (HD) patie...

    Authors: Alicja E. Grzegorzewska, Monika K. Świderska, Adrianna Mostowska, Wojciech Warchoł and Paweł P. Jagodziński

    Citation: BMC Nephrology 2017 18:165

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  20. Content type: Research article

    Cystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, a...

    Authors: Abdulrahman Obaid, Marwan Nashabat, Khalid Al Fakeeh, Abdullah T. Al Qahtani and Majid Alfadhel

    Citation: BMC Nephrology 2017 18:50

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  21. Content type: Research article

    In Sri Lanka, there exists chronic kidney disease of both known (CKD) and unknown etiologies (CKDu). Identification of novel biomarkers that are customized to the specific causative factors would lead to early...

    Authors: Saravanabavan Sayanthooran, Dhammika N. Magana-Arachchi, Lishanthe Gunerathne and Tilak Abeysekera

    Citation: BMC Nephrology 2017 18:31

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  22. Content type: Research article

    Aboriginal Australians are at high risk of cardiovascular, metabolic and renal diseases, resulting in a marked reduction in life expectancy when compared to the rest of the Australian population. This is partl...

    Authors: David L. Duffy, Stephen P. McDonald, Beverley Hayhurst, Sianna Panagiotopoulos, Trudy J. Smith, Xing L. Wang, David E. Wilcken, Natalia L. Duarte, John Mathews and Wendy E. Hoy

    Citation: BMC Nephrology 2016 17:183

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  23. Content type: Research article

    Transcription factor Nrf2 protects from experimental acute kidney injury (AKI) and is promising to limit progression in human chronic kidney disease (CKD) by upregulating multiple antioxidant genes. We recentl...

    Authors: Sanjeev Noel, Lois J. Arend, Samatha Bandapalle, Sekhar P. Reddy and Hamid Rabb

    Citation: BMC Nephrology 2016 17:110

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  24. Content type: Research article

    Disruption of ROBO2 in humans causes vesicoureteral reflux (VUR)/congenital anomalies of the kidney and urinary tract (CAKUT). PiggyBac (PB) is a DNA transposon, and its insertion often reduces—but does not elimi...

    Authors: Jialu Liu, Li Sun, Qian Shen, Xiaohui Wu and Hong Xu

    Citation: BMC Nephrology 2016 17:98

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  25. Content type: Research article

    Increased urinary albumin excretion rate is the earliest clinical manifestation of diabetic nephropathy. The development of microalbuminuria in patients with type 1 diabetes mellitus (T1D) usually begins 5 to ...

    Authors: Dovilė Ražanskaitė-Virbickienė, Evalda Danytė and Rimantas Žalinkevičius

    Citation: BMC Nephrology 2016 17:38

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  26. Content type: Research article

    Mutations in several genes expressed in podocytes, including Cd2ap, have been associated with focal segmental glomerulosclerosis in humans. Mutant mouse models provide an opportunity to better understand the mole...

    Authors: Eric W. Brunskill and S. Steven Potter

    Citation: BMC Nephrology 2015 16:71

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  27. Content type: Research article

    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows s...

    Authors: Hamad Ali, Naser Hussain, Medhat Naim, Mohamed Zayed, Fahd Al-Mulla, Elijah O Kehinde, Lauren M Seaburg, Jamie L Sundsbak and Peter C Harris

    Citation: BMC Nephrology 2015 16:26

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  28. Content type: Research article

    Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5. Diagnosis of these conditions can be hindere...

    Authors: Fujun Lin, Fan Bian, Jun Zou, Xiangru Wu, Jianping Shan, Wei Lu, Yao Yao, Gengru Jiang and Daniel Philip Gale

    Citation: BMC Nephrology 2014 15:175

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  29. Content type: Research article

    Genetic factors are suspected in the pathogenesis of IgA nephropathy, as well as in the course of IgA nephropathy progression towards end stage renal failure. UMOD polymorphism rs12917707 is known to associate wi...

    Authors: Miriana Dinic, Lidia Ghisdal, Judith Racapé, Lise Thibaudin, Philippe Gatault, Marie Essig, Yann Le Meur, Christian Noël, Guy Touchard, Pierre Merville, Zineb Ajarchouh, Christophe Mariat, Marc Abramowicz, Daniel Abramowicz and Eric Alamartine

    Citation: BMC Nephrology 2014 15:138

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  30. Content type: Case report

    Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8...

    Authors: Rea Valaperta, Vittoria Rizzo, Fortunata Lombardi, Chiara Verdelli, Marco Piccoli, Andrea Ghiroldi, Pasquale Creo, Alessio Colombo, Massimiliano Valisi, Elisabetta Margiotta, Rossella Panella and Elena Costa

    Citation: BMC Nephrology 2014 15:102

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  31. Content type: Research article

    Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to h...

    Authors: Guo-min Li, Hong Xu, Qian Shen, Yi-nv Gong, Xiao-yan Fang, Li Sun, Hai-mei Liu and Yu An

    Citation: BMC Nephrology 2014 15:92

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  32. Content type: Case report

    Familial juvenile hyperuricaemic nephropathy is a rare inherited nephropathy with genetic heterogeneity. Categorised by genetic defect, mutations in uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1β...

    Authors: Lucy A Plumb, Matko Marlais, Agnieszka Bierzynska, Howard Martin, Kim Brugger, Stephen Abbs and Moin A Saleem

    Citation: BMC Nephrology 2014 15:76

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  33. Content type: Case report

    Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused...

    Authors: Luisa Santangelo, Maddalena Gigante, Giuseppe Stefano Netti, Sterpeta Diella, Flora Puteo, Vincenza Carbone, Giuseppe Grandaliano, Mario Giordano and Loreto Gesualdo

    Citation: BMC Nephrology 2014 15:41

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  34. Content type: Research article

    The presence of glutathione transferase (GST) M1 null genotype (GSTM1-null) in end-stage renal disease (ESRD) patients is associated with lower overall survival rate in comparison to those with GSTM1-active varia...

    Authors: Sonja Suvakov, Tatjana Damjanovic, Tatjana Pekmezovic, Jovana Jakovljevic, Ana Savic-Radojevic, Marija Pljesa-Ercegovac, Slavica Radovanovic, Dragan V Simic, Steva Pljesa, Milos Zarkovic, Jasmina Mimic-Oka, Nada Dimkovic and Tatjana Simic

    Citation: BMC Nephrology 2014 15:12

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  35. Content type: Technical advance

    Traditionally, for DNA analyses, DNA is recovered from buffy coats. Since DNA in urine has been reported to deteriorate quickly, this option is often not considered. To complete our DNA database in patients wi...

    Authors: Marc Hilhorst, Ruud Theunissen, Henk van Rie, Pieter van Paassen and Jan Willem Cohen Tervaert

    Citation: BMC Nephrology 2013 14:238

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  36. Content type: Technical advance

    Accumulated to-date microarray data on ischemia reperfusion injury (IRI) of kidney represent a powerful source for identifying new targets and mechanisms of kidney IRI. In this study, we conducted a meta-analy...

    Authors: Dmitry N Grigoryev, Dilyara I Cheranova, Daniel P Heruth, Peixin Huang, Li Q Zhang, Hamid Rabb and Shui Q Ye

    Citation: BMC Nephrology 2013 14:231

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  37. Content type: Research article

    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

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  38. Content type: Research article

    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

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  39. Content type: Case report

    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

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  40. Content type: Case report

    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

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  41. Content type: Case report

    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

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  42. Content type: Case report

    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

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  43. Content type: Research article

    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

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  44. Content type: Case report

    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

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