Article
Urology & Nephrology
Gary Leggatt, Christine Gast, Rodney D. Gilbert, Kristin Veighey, Tahmina Rahman, Sarah Ennis
Summary: This article presents two brothers with only chronic kidney disease (CKD) as a symptom, but the presence of non-typical clinical features led to further assessment. Whole-genome sequencing revealed mutations in the CLCN5 gene, confirming the diagnosis of Dent disease. Therefore, Dent disease should be considered in patients with an incomplete phenotype, including unexplained CKD alone.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Genetics & Heredity
Ria Schoenauer, Lotte Scherer, Melanie Nemitz-Kliemchen, Tobias Hagemann, Elena Hantmann, Anna Seidel, Luise Mueller, Stephanie Kehr, Cornelia Voigt, Jens-Uwe Stolzenburg, Jan Halbritter
Summary: Kidney stone disease is a common condition associated with both genetic and environmental factors. This study used targeted next generation sequencing to identify hereditary kidney stone disorders in adults, providing insights into the underlying mechanisms of the disease and potential personalized treatments. Additionally, the study found that hereditary kidney stone disease is associated with increased disease severity.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Lin Huang, Chang Qi, Gaohong Zhu, Juanjuan Ding, Li Yuan, Jie Sun, Xuelian He, Xiaowen Wang
Summary: This study summarized the genotype-phenotype correlation of hereditary nephrolithiasis/nephrocalcinosis in pediatric patients and found that genetic testing and clinical phenotype evaluation enable precision medicine approach to treating patients.
MOLECULAR GENETICS AND GENOMICS
(2022)
Article
Genetics & Heredity
Ihsan Ullah, Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail, Hafiza Ammara, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Muhammad Yasir Zahoor, Amar J. Majmundar
Summary: A novel loss-of-function variant in the CaSR gene was discovered in Pakistani stone formers, further expanding the connection between the CaSR locus and nephrolithiasis.
BMC MEDICAL GENOMICS
(2021)
Article
Immunology
Hong Gao, Jiaqiong Lin, Fu Xiong, Zuhu Yu, Shilei Pan, Yuxin Huang
Summary: A study was conducted on urinary microbiome compositions and metabolic alterations in nephrolithiasis patients, revealing distinct profiles from healthy individuals. Potential diagnostic metabolites and differential metabolic pathways were identified, shedding new light on the disease pathogenesis and providing early clinical biomarkers for diagnosis.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Sunisa Yoodee, Paleerath Peerapen, Sirikanya Plumworasawat, Visith Thongboonkerd
Summary: This study found that heat-shock protein 90 (HSP90) and its four functional domains play important roles in the formation of kidney stones, promoting the crystallization, growth, aggregation, adhesion onto renal cells, and invasion through the extracellular matrix (ECM) of calcium oxalate monohydrate (COM) crystals.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Physiology
Heather A. L. Riddle, Shiqin Zhang, Feng Qian, James C. Williams, Jason R. Stubbs, Peter Stanley N. Rowe, Stephen C. Parnell
Summary: This study found that compound heterozygous Pkd1(VIRC) mice develop calcium phosphate-containing stones within cysts of the renal cortex by 13 weeks of age. This is the first animal model of polycystic kidney disease that exhibits spontaneous stone formation. Growing evidence suggests a link between renal stone formation and cystic kidney disease. This mouse model may be useful for studying the interplay between stone and cyst formation and the functional role of polycystins in mineral homeostasis.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
(2022)
Article
Endocrinology & Metabolism
Carolyn D. Seib, Calyani Ganesan, Katherine D. Arnow, Alan C. Pao, John T. Leppert, Nicolas B. Barreto, Electron Kebebew, Manjula Kurella Tamura
Summary: A longitudinal cohort study found that patients with primary hyperparathyroidism (PHPT) who underwent parathyroidectomy were at a higher risk of kidney stone events in the immediate years after treatment compared to those managed nonoperatively, although the adjusted risk declined over time.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Emergency Medicine
Lisa Feit, Delna John, Nayla Delgado Torres, Richard Sinert
Summary: A patient presenting with typical symptoms of nephrolithiasis was ultimately diagnosed with Page kidney causing secondary hypertension, with conservative treatment as the main management approach.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2021)
Article
Endocrinology & Metabolism
Zhongyu Jian, Yu Huang, Yazhou He, Xi Jin, Hong Li, Sheyu Li, Kunjie Wang
Summary: The study found that higher genetically predicted lifelong circulating 25(OH)D levels are associated with higher calcium levels and KSD risk. The effects of 25(OH)D on KSD were partially attenuated but still significant in MVMR.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Urology & Nephrology
Joseph Gutbrod, Charles Clayton Keys McKay, Lillian Coe, Kristin Bergsland, Fredric Coe, Elaine Worcester, Megan Prochaska
Summary: Physicians use 24-hour urine data to guide treatment strategy decisions for kidney stone patients, and these strategies have achieved the intended effects on urine composition and lowered kidney stone risk.
AMERICAN JOURNAL OF NEPHROLOGY
(2023)
Review
Endocrinology & Metabolism
Elvira O. Gosmanova, Pascal Houillier, Lars Rejnmark, Claudio Marelli, John P. Bilezikian
Summary: Patients with chronic hypoparathyroidism managed with conventional therapy, including oral calcium and active vitamin D, may have a higher risk of renal complications such as nephrolithiasis and nephrocalcinosis compared to the general population. Studies show an increased risk of chronic kidney disease in these patients, with rates varying depending on the duration of disease and treatment.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2021)
Article
Nutrition & Dietetics
Zhongyu Jian, Menghua Wang, Xi Jin, Hong Li, Kunjie Wang
Summary: This study found no significant associations between diet-derived antioxidants intake and KSD risk. Genetic factors and genetically predicted KSD risk also did not show significant correlations. The study did not support a causal relationship between circulating antioxidants levels and KSD risk. Further research with larger sample sizes is needed to validate these findings.
FRONTIERS IN NUTRITION
(2021)
Article
Medicine, Research & Experimental
Markus Ketteler, Kristina Chen, Elvira O. Gosmanova, James Signorovitch, Fan Mu, Joshua A. Young, Nicole Sherry, Lars Rejnmark
Summary: This retrospective cohort study using a managed care claims database in the United States found that patients with chronic hypoparathyroidism have a significantly increased risk of nephrolithiasis and nephrocalcinosis compared to those without chronic hypoparathyroidism during a 5-year follow-up period.
ADVANCES IN THERAPY
(2021)
Article
Medicine, Research & Experimental
Mario Basulto-Martinez, Barbara Pena-Espinoza, Rafael Valdez-Ortiz, Rachel Escalante-Sosa, Juan Pablo Flores-Tapia, Marta Menjivar
Summary: Common metabolic abnormalities in urinary stone patients in the Maya region of Mexico include hypocitraturia, hypercalciuria, hypomagnesuria, hyperoxaluria, and hyperuricosuria. Interestingly, a deficiency of inhibitors such as citrate and magnesium is highly prevalent and may be influenced by other metabolic conditions and malnutrition.
ARCHIVES OF MEDICAL RESEARCH
(2022)
Letter
Hematology
Maria Weise, Annelie Siegemund, Lydia Boehme, Daniel Grey, Jan Halbritter, Sirak Petros, Christian Pfrepper
Article
Urology & Nephrology
Tilman Breiderhoff, Nina Himmerkus, Luca Meoli, Anja Fromm, Sebastian Sewerin, Natalia Kriuchkova, Oliver Nagel, Yury Ladilov, Susanne M. Krug, Catarina Quintanova, Meike Stumpp, Dieter Garbe-Schoenberg, Ulrike Westernstroeer, Cosima Merkel, Merle Annette Brinkhus, Janine Altmuller, Michal R. Schweiger, Dominik Muller, Kerim Mutig, Markus Morawski, Jan Halbritter, Susanne Milatz, Markus Bleich, Dorothee Guenzel
Summary: Recent study indicates that claudin-10a is the major paracellular anion channel in the proximal tubule, and its deficiency leads to excessive reabsorption of calcium and magnesium. Various analyses, including electrophysiological studies, suggest compensatory transcellular transport in proximal and distal tubule segments, as well as metabolic adaptation in the proximal tubule, to counterbalance the loss of paracellular anion permeability.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Urology & Nephrology
Johannes Muench, Marie Engesser, Ria Schoenauer, J. Austin Hamm, Christin Hartig, Elena Hantmann, Gulsen Akay, Davut Pehlivan, Tadahiro Mitani, Zeynep Coban Akdemir, Beyhan Tuysuz, Toshihiko Shirakawa, Sumito Dateki, Laura R. Claus, Albertien M. van Eerde, Thomas Smol, Louise Devisme, Helene Franquet, Tania Attie-Bitach, Timo Wagner, Carsten Bergmann, Anne Kathrin Hoehn, Shirlee Shril, Ari Pollack, Tara Wenger, Abbey A. Scott, Sarah Paolucci, Jillian Buchan, George C. Gabriel, Jennifer E. Posey, James R. Lupski, Florence Petit, Andrew A. McCarthy, Gregory J. Pazour, Cecilia W. Lo, Bernt Popp, Jan Halbritter
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney failure in children. However, the majority of cases remain etiologically unsolved. Recent research has identified genetic alterations in the ROBO1 gene associated with kidney and genitourinary defects, providing new insights for the diagnosis and treatment of CAKUT.
KIDNEY INTERNATIONAL
(2022)
Article
Biology
Thomas W. Winkler, Humaira Rasheed, Alexander Teumer, Mathias Gorski, Bryce X. Rowan, Kira J. Stanzick, Laurent F. Thomas, Adrienne Tin, Anselm Hoppmann, Audrey Y. Chu, Bamidele Tayo, Chris H. L. Thio, Daniele Cusi, Jin-Fang Chai, Karsten B. Sieber, Katrin Horn, Man Li, Markus Scholz, Massimiliano Cocca, Matthias Wuttke, Peter J. van der Most, Qiong Yang, Sahar Ghasemi, Teresa Nutile, Yong Li, Giulia Pontali, Felix Guenther, Abbas Dehghan, Adolfo Correa, Afshin Parsa, Agnese Feresin, Aiko P. J. de Vries, Alan B. Zonderman, Albert Smith, Albertine J. Oldehinkel, Alessandro De Grandi, Alexander R. Rosenkranz, Andre Franke, Andrej Teren, Andres Metspalu, Andrew A. Hicks, Andrew P. Morris, Anke Toenjes, Anna Morgan, Anna Podgornaia, Annette Peters, Antje Koerner, Anubha Mahajan, Archie Campbell, Barry Freedman, Beatrice Spedicati, Belen Ponte, Ben Schoettker, Ben Brumpton, Bernhard Banas, Bernhard K. Kraemer, Bettina Jung, Bjorn Olav Asvold, Blair H. Smith, Boting Ning, Brenda W. J. H. Penninx, Brett R. Vanderwerff, Bruce M. Psaty, Candace M. Kammerer, Carl D. Langefeld, Caroline Hayward, Cassandra N. Spracklen, Cassianne Robinson-Cohen, Catharina A. Hartman, Cecilia M. Lindgren, Chaolong Wang, Charumathi Sabanayagam, Chew-Kiat Heng, Chiara Lanzani, Chiea-Chuen Khor, Ching-Yu Cheng, Christian Fuchsberger, Christian Gieger, Christian M. Shaffer, Christina-Alexandra Schulz, Cristen J. Willer, Daniel Chasman, Daniel F. Gudbjartsson, Daniela Ruggiero, Daniela Toniolo, Darina Czamara, David J. Porteous, Dawn M. Waterworth, Deborah Mascalzoni, Dennis O. Mook-Kanamori, Dermot F. Reilly, E. Warwick Daw, Edith Hofer, Eric Boerwinkle, Erika Salvi, Erwin P. Bottinger, E-Shyong Tai, Eulalia Catamo, Federica Rizzi, Feng Guo, Fernando Rivadeneira, Franco Guilianini, Gardar Sveinbjornsson, Georg Ehret, Gerard Waeber, Ginevra Biino, Giorgia Girotto, Giorgio Pistis, Girish N. Nadkarni, Graciela E. Delgado, Grant W. Montgomery, Harold Snieder, Harry Campbell, Harvey D. White, He Gao, Heather M. Stringham, Helena Schmidt, Hengtong Li, Hermann Brenner, Hilma Holm, Holgen Kirsten, Holly Kramer, Igor Rudan, Ilja M. Nolte, Ioanna Tzoulaki, Isleifur Olafsson, Jade Martins, James P. Cook, James F. Wilson, Jan Halbritter, Janine F. Felix, Jasmin Divers, Jaspal S. Kooner, Jeannette Jen-Mai Lee, Jeffrey O'Connell, Jerome Rotter, Jianjun Liu, Jie Xu, Joachim Thiery, Johan Arnlov, Johanna Kuusisto, Johanna Jakobsdottir, Johanne Tremblay, John C. Chambers, John B. Whitfield, John M. Gaziano, Jonathan Marten, Josef Coresh, Jost B. Jonas, Josyf C. Mychaleckyj, Kaare Christensen, Kai-Uwe Eckardt, Karen L. Mohlke, Karlhans Endlich, Katalin Dittrich, Kathleen A. Ryan, Kenneth M. Rice, Kent D. Taylor, Kevin Ho, Kjell Nikus, Koichi Matsuda, Konstantin Strauch, Kozeta Miliku, Kristian Hveem, Lars Lind, Lars Wallentin, Laura M. Yerges-Armstrong, Laura M. Raffield, Lawrence S. Phillips, Lenore J. Launer, Leo-Pekka Lyytikainen, Leslie A. Lange, Lorena Citterio, Lucija Klaric, M. Arfan Ikram, Marcus Ising, Marcus E. Kleber, Margherita Francescatto, Maria Pina Concas, Marina Ciullo, Mario Piratsu, Marju Orho-Melander, Markku Laakso, Markus Loeffler, Markus Perola, Martin H. de Borst, Martin Gogele, Martina La Bianca, Mary Ann Lukas, Mary F. Feitosa, Mary L. Biggs, Mary K. Wojczynski, Maryam Kavousi, Masahiro Kanai, Masato Akiyama, Masayuki Yasuda, Matthias Nauck, Melanie Waldenberger, Miao-Li Chee, Miao-Ling Chee, Michael Boehnke, Michael H. Preuss, Michael Stumvoll, Michael A. Province, Michele K. Evans, Michelle L. O'Donoghue, Michiaki Kubo, Mika Kahonen, Mika Kastarinen, Mike A. Nalls, Mikko Kuokkanen, Mohsen Ghanbari, Murielle Bochud, Navya Shilpa Josyula, Nicholas G. Martin, Nicholas Y. Q. Tan, Nicholette D. Palmer, Nicola Pirastu, Nicole Schupf, Niek Verweij, Nina Hutri-Kahonen, Nina Mononen, Nisha Bansal, Olivier Devuyst, Olle Melander, Olli T. Raitakari, Ozren Polasek, Paolo Manunta, Paolo Gasparini, Pashupati P. Mishra, Patrick Sulem, Patrik K. E. Magnusson, Paul Elliott, Paul M. Ridker, Pavel Hamet, Per O. Svensson, Peter K. Joshi, Peter Kovacs, Peter P. Pramstaller, Peter Rossing, Peter Vollenweider, Pim van der Harst, Rajkumar Dorajoo, Ralene Z. H. Sim, Ralph Burkhardt, Ran Tao, Raymond Noordam, Reedik Magi, Reinhold Schmidt, Renee de Mutsert, Rico Rueedi, Rob M. van Dam, Robert J. Carroll, Ron T. Gansevoort, Ruth J. F. Loos, Sala Cinzia Felicita, Sanaz Sedaghat, Sandosh Padmanabhan, Sandra Freitag-Wolf, Sarah A. Pendergrass, Sarah E. Graham, Scott D. Gordon, Shih-Jen Hwang, Shona M. Kerr, Simona Vaccargiu, Snehal B. Patil, Stein Hallan, Stephan J. L. Bakker, Su-Chi Lim, Susanne Lucae, Suzanne Vogelezang, Sven Bergmann, Tanguy Corre, Tarunveer S. Ahluwalia, Terho Lehtimaki, Thibaud S. Boutin, Thomas Meitinger, Tien-Yin Wong, Tobias Bergler, Ton J. Rabelink, Tonu Esko, Toomas Haller, Unnur Thorsteinsdottir, Uwe Voelker, Valencia Hui Xian Foo, Veikko Salomaa, Veronique Vitart, Vilmantas Giedraitis, Vilmundur Gudnason, Vincent W. V. Jaddoe, Wei Huang, Weihua Zhang, Wen Bin Wei, Wieland Kiess, Winfried Marz, Wolfgang Koenig, Wolfgang Lieb, Xin Gao, Xueling Sim, Ya Xing Wang, Yechiel Friedlander, Yih-Chung Tham, Yoichiro Kamatani, Yukinori Okada, Yuri Milaneschi, Zhi Yu, Klaus J. Stark, Kari Stefansson, Carsten A. Boeger, Adriana M. Hung, Florian Kronenberg, Anna Koettgen, Cristian Pattaro, Iris M. Heid
Summary: A large-scale GWAS study identified significant genetic effects of diabetes and genes on glomerular filtration rate, with potential loci associated with diabetic kidney disease. The study also highlighted genes that may inform the development of reno-protective drugs.
COMMUNICATIONS BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Jonathan de Fallois, Soeren Schenk, Jan Kowald, Tom H. Lindner, Marie Engesser, Johannes Muench, Christof Meigen, Jan Halbritter
Summary: In adults with low-grade or subnephrotic proteinuria, the diagnostic value of kidney biopsy as a first-line diagnostic test is not well-established. This retrospective analysis of 639 kidney biopsies found that subnephrotic proteinuria patients had a higher risk of primary glomerulopathies, and the amount of proteinuria at biopsy was linearly associated with renal and overall survival.
Article
Immunology
Claudia Lehmann, Sarah Pehnke, Antje Weimann, Anette Bachmann, Katalin Dittrich, Friederike Petzold, Daniel Fuerst, Jonathan de Fallois, Ramona Landgraf, Reinhard Henschler, Tom H. H. Lindner, Jan Halbritter, Ilias Doxiadis, Bernt Popp, Johannes Muench
Summary: High resolution HLA genotyping can identify previously missed HLA mismatches and corresponding antibodies in kidney transplantation, resulting in more sensitive HLA matching information and improved discrimination between donor and non-donor HLA directed immune reactions. It also allows for better prediction of potential donor-specific antibodies and selection of the most suitable donors.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Urology & Nephrology
Frank B. Cortazar, John L. Niles, David R. W. Jayne, Peter A. Merkel, Annette Bruchfeld, Huibin Yue, Thomas J. Schall, Pirow Bekker
Summary: In the ADVOCATE trial, avacopan showed better improvement of eGFR compared to prednisone in treating ANCA-associated vasculitis, especially in patients with baseline eGFR <= 20 ml/min/1.73 m2.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Genetics & Heredity
Ria Schonauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Poschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Munch, Henrik Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noe, Christian Wolfrum, Emily Woods, Michael J. Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A. Paolucci, Jillian G. Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Bluher, John A. Sayer, Jan Halbritter
Summary: Monogenic forms of obesity, characterized by dysregulation of food intake and satiety in the central nervous system, often accompanied by neurodevelopmental delay and autism spectrum disorder, provide insights into the underlying mechanisms of common obesity. A truncating variant in the POU3F2 gene was identified in a family with syndromic obesity, and further research found ultra-rare truncating and missense variants in other individuals with obesity and neurodevelopmental disorders. These variants lead to transcriptional dysregulation associated with hyperphagic obesity and variable neurodevelopmental delay.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Floranne Boulogne, Laura R. Claus, Henry Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, Shuang Li, Harm-Jan Westra, Bert van der Zwaag, Franka van Reekum, Dana Sierks, Ria Schoenauer, Zhigui Li, Emilia K. Bijlsma, Willem Jan W. Bos, Jan Halbritter, Nine V. A. M. Knoers, Whitney Besse, Patrick Deelen, Lude Franke, Albertien M. van Eerde
Summary: Researchers have developed KidneyNetwork, a method that utilizes tissue-specific expression to prioritize candidate genes for kidney diseases. By integrating kidney RNA-sequencing co-expression network with a multi-tissue network, KidneyNetwork predicts genes related to kidney disease phenotypes using expression patterns and gene-phenotype associations. Applying KidneyNetwork to patients with undiagnosed kidney disease, it accurately predicts kidney-specific gene functions and identifies ALG6 as a plausible candidate gene for kidney and liver cysts.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Nutrition & Dietetics
Friederike Petzold, Ria Schoenauer, Andreas Werner, Jan Halbritter
Summary: Apart from increased fluid intake, specific metaphylaxis is required for patients with kidney stone disease (KSD) due to renal phosphate wasting. Genetic alterations impacting NaPi2a, NaPi2c, and NHERF1 have been found in monogenic hypophosphatemia with a risk of KSD. This study identified cases of oligo- and digenicity in patients with hereditary KSD, showing the importance of digenicity and gene dosage in the severity of renal phosphate wasting.
Article
Multidisciplinary Sciences
Lotte Scherer, Ria Schoenauer, Melanie Nemitz-Kliemchen, Tobias Hagemann, Elena Hantmann, Jonathan de Fallois, Friederike Petzold, Matthias Blueher, Jan Halbritter
Summary: The risk of enteric hyperoxaluria is significantly increased after malabsorptive bariatric surgery. Clinical factors such as weight loss and malabsorption parameters are more predictive of the risk than genetic factors. Prevalence of hyperoxaluria is high after bariatric surgery, but genetic variation in known hyperoxaluria genes has little impact on its development.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Amar J. Majmundar, Eugen Widmeier, John F. Heneghan, Ankana Daga, Chen-Han Wilfred Majmundar, Florian Buerger, Hannah Heneghan, Ihsan Ullah, Ali Amar, Isabel Ottlewski, Daniela A. Braun, Tilman Jobst-Schwan, Jennifer A. Lawson, Muhammad Yasir Zahoor, Nancy M. Rodig, Velibor Tasic, Caleb P. Nelson, Shagufta Khaliq, Ria Schoenauer, Jan Halbritter, John A. Sayer, Hanan M. Fathy, Michelle A. Baum, Shirlee Shril, Shrikant Mane, Seth L. Alper, Friedhelm Hildebrandt
Summary: Rare, dominant loss-of-function OXGR1 variants are associated with recurrent calcium oxalate nephrolithiasis and nephrocalcinosis. OXGR1 encodes alpha-ketoglutarate (AKG) receptor 1 in the distal nephron and plays a crucial role in calcium transport. The study provides evidence for the involvement of OXGR1 in the pathogenesis of NL/NC.
GENETICS IN MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Dana Sierks, Ria Schoenauer, Anja Friedrich, Elena Hantmann, Jonathan de Fallois, Nikolas Linder, Janett Fischer, Adam Herber, Carsten Bergmann, Thomas Berg, Jan Halbritter
Summary: Polycystic liver disease (PLD) is a highly variable condition that can be asymptomatic or severe. Currently, it is difficult to predict clinical outcomes in individual patients. The study investigates the clinical value of genetic confirmation and an age-adjusted total liver volume classification for individual disease prediction.
Article
Biochemistry & Molecular Biology
Sebastian Sewerin, Jorg Piontek, Ria Schonauer, Sonja Grunewald, Angelika Rauch, Steffen Neuber, Carsten Bergmann, Dorothee Gunzel, Jan Halbritter
Summary: This study investigated the molecular basis and phenotypic consequences of a CLDN10 gene variant, which disrupts the assembly of tight junction (TJ) strands. The mutant proteins compromised the function of TJ and exhibited tissue-specific insertion into TJs.
Meeting Abstract
Biochemistry & Molecular Biology
Floranne Boulogne, Laura R. Claus, Henry Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, Shuang Li, Harm-Jan Westra, Bert van der Zwaag, Franka van Reekum, Dana Sierks, Ria Schoenauer, Jan Halbritter, Nine V. A. M. Knoers, Patrick Deelen, Lude Franke, Albertien M. van Eerde
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
