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Select item 111441761.

Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant

Yuko Yamada, Hiroki Yokoyama, Ryo Kinoshita, Koichi Kitamoto, Yasuo Kawaba, Shinichi Okada, Takashi Horie, China Nagano, Kandai Nozu, Noriyuki Namba

CEN Case Rep. 2024 Jun; 13(3): 204–208. Published online 2023 Oct 28. doi: 10.1007/s13730-023-00830-6

PMCID:: PMC11144176

Abstract Article PDF–1.2M

Select item 111161632.

33例不同程度肾损伤Alport综合征患儿远期听力监测分析

郭丽宁, 刘薇, 陈敏, 徐佳童, 马宁, 张晓, 段清川, 刘珊珊, 王晓旭, 甄俊淞, 倪鑫, 张杰

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 44–49. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.007

PMCID:: PMC11116163

Abstract Article PDF–2.1M

Select item 110465543.

Genomics in the kidney clinic

Gabriel T Doctor, Daniel P Gale, Melanie MY Chan

Clin Med (Lond) 2023 May; 23(3): 246–249. Published online 2024 Apr 11. doi: 10.7861/clinmed.2023-RM2

PMCID:: PMC11046554

Abstract Article PDF–355K

Select item 110410104.

GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract

Xuanjin Du, Chunyan Wang, Jialu Liu, Minghui Yu, Haixin Ju, Shanshan Xue, Yaxin Li, Jiaojiao Liu, Rufeng Dai, Jing Chen, Yihui Zhai, Jia Rao, Xiang Wang, Yubo Sun, Lei Sun, Xiaohui Wu, Hong Xu, Qian Shen

Hum Genomics. 2024; 18: 41. Published online 2024 Apr 24. doi: 10.1186/s40246-024-00606-8

PMCID:: PMC11041010

Abstract Article PDF–9.8M

Select item 110404535.

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease

Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L. Vora, Kelly L. Gilmore, Jessica L. Giordano, Ronald J. Wapner, Simone Sanna-Cherchi, Alex Lyford, Angie C. Jelin, Ali G. Gharavi, Thomas Hays

Prenat Diagn. Author manuscript; available in PMC 2024 Apr 24.

Published in final edited form as: Prenat Diagn. 2024 Mar; 44(3): 343–351. Published online 2024 Jan 29. doi: 10.1002/pd.6527

PMCID:: PMC11040453

Abstract Article PDF–748K

Select item 109900296.

Alport syndrome and Alport kidney diseases – elucidating the disease spectrum

Pongpratch Puapatanakul, Jeffrey H. Miner

Curr Opin Nephrol Hypertens. 2024 May; 33(3): 283–290. Published online 2024 Mar 13. doi: 10.1097/MNH.0000000000000983

PMCID:: PMC10990029

Abstract Article PDF–1.4M

Select item 109848147.

Inhibition of pannexin‐1 does not restore electrolyte balance in precystic Pkd1 knockout mice

Wouter H. van Megen, Teun J. van Houtert, Caro Bos, Dorien J. M. Peters, Jeroen H. F. de Baaij, Joost G. J. Hoenderop

Physiol Rep. 2024 Apr; 12(7): e15956. Published online 2024 Apr 1. doi: 10.14814/phy2.15956

PMCID:: PMC10984814

Abstract Article PDF–1.9M

Select item 109794588.

Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Dalia Pantel, Nils D. Mertens, Ronen Schneider, Selina Hölzel, Jameela A. Kari, Sherif El Desoky, Mohamed A. Shalaby, Tze Y. Lim, Simone Sanna-Cherchi, Shirlee Shril, Friedhelm Hildebrandt

Pediatr Nephrol. Author manuscript; available in PMC 2024 Mar 29.

Published in final edited form as: Pediatr Nephrol. 2024 Feb; 39(2): 455–461. Published online 2023 Sep 5. doi: 10.1007/s00467-023-06134-2

PMCID:: PMC10979458

Abstract Article PDF–827K

Select item 109159309.

Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center

Amir Emami, Fatemeh Nili, Maryam Sotoudeh Anvari, Samaneh Salarvand, Golnar Seirafi

Arch Iran Med. 2024 Jan; 27(1): 8–14. Published online 2024 Jan 1. doi: 10.34172/aim.2024.02

PMCID:: PMC10915930

Abstract Article PDF–751K

Select item 1091021310.

Genetic diagnosis of Alport syndrome in 16 Chinese families

Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang

Mol Genet Genomic Med. 2024 Mar; 12(3): e2406. Published online 2024 Mar 3. doi: 10.1002/mgg3.2406

PMCID:: PMC10910213

Abstract Article PDF–994K

Select item 1090060311.

A preliminary study of the miRNA restitution effect on CNV-induced miRNA downregulation in CAKUT

Kristina Mitrovic, Ivan Zivotic, Ivana Kolic, Jelena Zakula, Maja Zivkovic, Aleksandra Stankovic, Ivan Jovanovic

BMC Genomics. 2024; 25: 218. Published online 2024 Feb 27. doi: 10.1186/s12864-024-10121-8

PMCID:: PMC10900603

Abstract Article PDF–2.5M

Select item 1089975112.

Genetic and environmental factors driving congenital solitary functioning kidney

Sander Groen in ‘t Woud, Marleen M H J van Gelder, Iris A L M van Rooij, Wout F J Feitz, Nel Roeleveld, Michiel F Schreuder, Loes F M van der Zanden, for the SOFIA study group

Nephrol Dial Transplant. 2024 Mar; 39(3): 463–472. Published online 2023 Sep 20. doi: 10.1093/ndt/gfad202

PMCID:: PMC10899751

Abstract Article PDF–1.0M

Select item 1081784413.

Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis

Victor Zhu, Tess Huang, David Wang, Deb Colville, Heather Mack, Judy Savige

Pediatr Nephrol. 2024; 39(3): 655–679. Published online 2023 Aug 14. doi: 10.1007/s00467-023-06073-y

PMCID:: PMC10817844

Abstract Article PDF–1.6M

Select item 1081577814.

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort

Valeria Aiello, Francesca Ciurli, Amalia Conti, Carlotta Pia Cristalli, Sarah Lerario, Francesca Montanari, Nicola Sciascia, Gisella Vischini, Benedetta Fabbrizio, Roberta Di Costanzo, Giulia Olivucci, Andrea Pietra, Antonia Lopez, Loretta Zambianchi, Gaetano La Manna, Irene Capelli

Genes (Basel) 2024 Jan; 15(1): 3. Published online 2023 Dec 19. doi: 10.3390/genes15010003

PMCID:: PMC10815778

Abstract Article PDF–1.1M

Select item 1065959615.

Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports

Xiaoli Gao, Meilu Li, Kan Wang, Zengyan Li, Cha Han

Medicine (Baltimore) 2023 Nov 17; 102(46): e36057. Published online 2023 Nov 17. doi: 10.1097/MD.0000000000036057

PMCID:: PMC10659596

Abstract Article PDF–792K

Select item 1046440516.

Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases

Zhilang Lin, Jie Li, Yuxin Pei, Ying Mo, Xiaoyun Jiang, Lizhi Chen

BMC Nephrol. 2023; 24: 248. Published online 2023 Aug 23. doi: 10.1186/s12882-023-03193-3

PMCID:: PMC10464405

Abstract Article PDF–1.4M

Select item 1022713417.

Urinary epidermal growth factor/monocyte chemotactic peptide 1 ratio as non-invasive predictor of Mayo clinic imaging classes in autosomal dominant polycystic kidney disease

Maria Teresa Rocchetti, Francesco Pesce, Silvia Matino, Giovanni Piscopo, Ighli di Bari, Francesco Trepiccione, Giovanna Capolongo, Maria Antonietta Perniola, Xuewen Song, Saima Khowaja, Amirreza Haghighi, Dorien Peters, Simona Paolicelli, Paola Pontrelli, Giuseppe Stefano Netti, Elena Ranieri, Giovambattista Capasso, Marco Moschetta, York Pei, Loreto Gesualdo, (Studio PRE. MED. (MEDicina di PREcisione) Prog.n.F/050065/01-02/X32)

J Nephrol. 2023; 36(4): 987–997. Published online 2022 Nov 7. doi: 10.1007/s40620-022-01468-w

PMCID:: PMC10227134

Abstract Article PDF–1.7M

Select item 1020613018.

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II

Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street

Front Endocrinol (Lausanne) 2023; 14: 1018441. Published online 2023 May 10. doi: 10.3389/fendo.2023.1018441

PMCID:: PMC10206130

Abstract Article PDF–3.5M

Select item 1010335519.

HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes

Kelli Grand, Martine Stoltz, Ludovica Rizzo, Ruth Röck, Michael M. Kaminski, Gabriela Salinas, Maike Getwan, Thomas Naert, Roman Pichler, Soeren S. Lienkamp

J Am Soc Nephrol. 2023 Mar; 34(3): 412–432. Published online 2022 Dec 15. doi: 10.1681/ASN.2022010076

PMCID:: PMC10103355

Abstract Article

Select item 1010327020.

PPARδ Agonism Ameliorates Renal Fibrosis in an Alport Syndrome Mouse Model

Kohei Omachi, Colin O'Carroll, Jeffrey H. Miner

Kidney360. 2023 Mar; 4(3): 341–348. Published online 2022 Nov 29. doi: 10.34067/KID.0006662022

PMCID:: PMC10103270

Abstract Article PDF–1.4M

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