PMC Articles for MedGen (Select 863268) - PMC

Korbinian M. Riedhammer, Jasmina Ćomić, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Aleksandra Paripovic, Natasa Stajic, Thomas Meitinger, Valbona Nushi-Stavileci, Riccardo Berutti, Matthias C. Braunisch, Julia Hoefele

Eur J Hum Genet. 2023 Jun; 31(6): 674–680. Published online 2023 Mar 16. doi: 10.1038/s41431-023-01331-x

PMCID:: PMC10250376

Article PDF–862K

Select item 99626284.

PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database

Susanna Negrisolo, Elisa Benetti

Int J Mol Sci. 2023 Feb; 24(4): 4165. Published online 2023 Feb 19. doi: 10.3390/ijms24044165

PMCID:: PMC9962628

Article PDF–4.8M

Select item 83804665.

A mouse model displays host and bacterial strain differences in Aerococcus urinae urinary tract infection

Nicole M. Gilbert, Brian Choi, Jingjie Du, Christina Collins, Amanda L. Lewis, Catherine Putonti, Alan J. Wolfe

Biol Open. 2021 Aug 15; 10(8): bio058931. Published online 2021 Aug 13. doi: 10.1242/bio.058931

PMCID:: PMC8380466

Article PDF–10M

Select item 71964506.

Bilateral aniridia and congenital ureteral valve: Role of genetic testing

Lisa B. E. Shields, Dennis S. Peppas, Eran Rosenberg

Mol Genet Genomic Med. 2020 Apr; 8(4): e1183. Published online 2020 Feb 14. doi: 10.1002/mgg3.1183

PMCID:: PMC7196450

Article PDF–439K

Select item 66905797.

DNA copy number variations in children with vesicoureteral reflux and urinary tract infections

Dong Liang, Kirk M. McHugh, Pat D. Brophy, Nader Shaikh, J. Robert Manak, Peter Andrews, Inessa Hakker, Zihua Wang, Andrew L. Schwaderer, David S. Hains

PLoS One. 2019; 14(8): e0220617. Published online 2019 Aug 12. doi: 10.1371/journal.pone.0220617

PMCID:: PMC6690579

Article PDF–1.1M

Select item 66837098.

Sprouty1 Controls Genitourinary Development via its N-Terminal Tyrosine

Marta Vaquero, Sara Cuesta, Carlos Anerillas, Gisela Altés, Joan Ribera, M. Albert Basson, Jonathan D. Licht, Joaquim Egea, Mario Encinas

J Am Soc Nephrol. 2019 Aug; 30(8): 1398–1411. Published online 2019 Jul 12. doi: 10.1681/ASN.2018111085

PMCID:: PMC6683709

Article

Select item 65656009.

Diverse phenotypes in children with PAX2‐related disorder

Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Xiaoyu Liu, Baige Su, Hongwen Zhang, Ke Xu, Suxia Wang, Fang Wang, Jie Ding

Mol Genet Genomic Med. 2019 Jun; 7(6): e701. Published online 2019 May 6. doi: 10.1002/mgg3.701

PMCID:: PMC6565600

Article PDF–659K

Select item 653447510.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Jung-Hyun Kim, Eun Young Park, David Chitayat, David L. Stachura, Jörg Schaper, Kristin Lindstrom, Tamison Jewett, Dagmar Wieczorek, Jos M. Draaisma, Margje Sinnema, Christianne Hoeberigs, Maja Hempel, Kristine K. Bachman, Andrea H. Seeley, Joshua K. Stone, Hyun Kyung Kong, Lana Vukadin, Alexander Richard, Deepali N. Shinde, Kirsty McWalter, Yue Cindy Si, Ganka Douglas, Ssang-Taek Steve Lim, Lisenka E.L.M. Vissers, Mathieu Lemaire, Eun-Young Erin Ahn

Kidney Int. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Kidney Int. 2019 Jun; 95(6): 1494–1504. Published online 2019 Mar 15. doi: 10.1016/j.kint.2019.01.025

PMCID:: PMC6534475

Article PDF–1.4M

Select item 611565811.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw-yang Hwang, Julian Schulz, Daniela A. Braun, Johanna Magdalena Schmidt, David Schapiro, Ronen Schneider, Jillian K. Warejko, Ankana Daga, Amar J. Majmundar, Weizhen Tan, Tilman Jobst-Schwan, Tobias Hermle, Eugen Widmeier, Shazia Ashraf, Ali Amar, Charlotte A. Hoogstraaten, Hannah Hugo, Thomas M. Kitzler, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Leslie Spaneas, Kassaundra Amann, Deborah R. Stein, Michelle A. Baum, Michael J.G. Somers, Nancy M. Rodig, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Radovan Bogdanović, Natasa Stajić, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Muna Al-Saffar, Hazem S. Awad, Loai A. Eid, Aravind Selvin, Prabha Senguttuvan, Simone Sanna-Cherchi, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Michael W. Wilson, Shrikant M. Mane, Richard P. Lifton, Richard S. Lee, Stuart B. Bauer, Weining Lu, Heiko M. Reutter, Velibor Tasic, Shirlee Shril, Friedhelm Hildebrandt

J Am Soc Nephrol. 2018 Sep; 29(9): 2348–2361. Published online 2018 Aug 24. doi: 10.1681/ASN.2017121265

PMCID:: PMC6115658

Article

Select item 605747712.

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Walter L Miller, Deborah P Merke

Horm Res Paediatr. Author manuscript; available in PMC 2019 May 7.

Published in final edited form as: Horm Res Paediatr. 2018; 89(5): 352–361. Published online 2018 May 7. doi: 10.1159/000481911

PMCID:: PMC6057477

Article PDF–1.4M

Select item 571218713.

Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism

Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi

BMC Urol. 2017; 17: 112. Published online 2017 Dec 2. doi: 10.1186/s12894-017-0300-9

PMCID:: PMC5712187

Article PDF–470K

Select item 474710814.

RARE VARIANTS IN TENASCIN GENES IN A COHORT OF CHILDREN WITH PRIMARY VESICOURETERIC REFLUX

Shan Elahi, Alison Homstad, Himani Vaidya, Jennifer Stout, Gentzon Hall, Guanghong Wu, Peter Conlon, jr, Jonathan C. Routh, John S. Wiener, Sherry S. Ross, Shashi Nagaraj, Delbert Wigfall, John Foreman, Adebowale Adeyemo, Indra R. Gupta, Patrick D. Brophy, C. Egla Rabinovich, Rasheed A. Gbadegesin

Pediatr Nephrol. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: Pediatr Nephrol. 2016 Feb; 31(2): 247–253. Published online 2015 Sep 25. doi: 10.1007/s00467-015-3203-6

PMCID:: PMC4747108

Article PDF–655K

Select item 449785715.

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract

Daw-Yang Hwang, Stefan Kohl, Xueping Fan, Asaf Vivante, Stefanie Chan, Gabriel C Dworschak, Julian Schulz, Albertien M van Eerde, Alina C Hilger, Heon Yung Gee, Tracie Pennimpede, Bernhard G Herrmann, Glenn van de Hoek, Kirsten Y Renkema, Christoph Schell, Tobias B Huber, Heiko M Reutter, Neveen A Soliman, Natasa Stajic, Radovan Bogdanovic, Elijah O Kehinde, Richard P Lifton, Velibor Tasic, Weining Lu, Friedhelm Hildebrandt

Hum Genet. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: Hum Genet. 2015 Aug; 134(8): 905–916. Published online 2015 May 31. doi: 10.1007/s00439-015-1570-5

PMCID:: PMC4497857

Article PDF–2.5M

Select item 414797216.

Mutations in PAX2 Associate with Adult-Onset FSGS

Moumita Barua, Emilia Stellacci, Lorenzo Stella, Astrid Weins, Giulio Genovese, Valentina Muto, Viviana Caputo, Hakan R. Toka, Victoria T. Charoonratana, Marco Tartaglia, Martin R. Pollak

J Am Soc Nephrol. 2014 Sep; 25(9): 1942–1953. Published online 2014 Mar 27. doi: 10.1681/ASN.2013070686

PMCID:: PMC4147972

Article

Select item 379493717.

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain

PLoS One. 2013; 8(10): e76360. Published online 2013 Oct 10. doi: 10.1371/journal.pone.0076360

PMCID:: PMC3794937

Article PDF–1.0M

Select item 373671718.

TNXB Mutations Can Cause Vesicoureteral Reflux

Rasheed A. Gbadegesin, Patrick D. Brophy, Adebowale Adeyemo, Gentzon Hall, Indra R. Gupta, David Hains, Bartlomeij Bartkowiak, C. Egla Rabinovich, Settara Chandrasekharappa, Alison Homstad, Katherine Westreich, Guanghong Wu, Yutao Liu, Danniele Holanda, Jason Clarke, Peter Lavin, Angelica Selim, Sara Miller, John S. Wiener, Sherry S. Ross, John Foreman, Charles Rotimi, Michelle P. Winn

J Am Soc Nephrol. 2013 Jul 31; 24(8): 1313–1322. Published online 2013 Apr 25. doi: 10.1681/ASN.2012121148

PMCID:: PMC3736717

Article

Select item 370069719.

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Raymonde Bouvier, Philippe Loget, Jelena Martinovic, Pierre Dechelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michele Mathieu, Bruno Turlin, Tania Attie-Bitach, Rémi Salomon, Marie-Claire Gübler, Corinne Antignac, Laurence Heidet

Clin J Am Soc Nephrol. 2013 Jul 3; 8(7): 1179–1187. Published online 2013 Mar 28. doi: 10.2215/CJN.10221012

PMCID:: PMC3700697

Article

Select item 359926120.

Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

Elisa Brandigi, Francesco Molinaro, Anna Lavinia Bulotta, Rossella Angotti, Maria Pavone, Mario Messina

Ital J Pediatr. 2013; 39: 6. Published online 2013 Jan 23. doi: 10.1186/1824-7288-39-6

PMCID:: PMC3599261

Article PDF–467K

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