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Select item 115947091.

Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study

Juyun Nam, Hyuntaek Jung, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung

J Clin Med. 2024 Nov; 13(22): 6639. Published online 2024 Nov 5. doi: 10.3390/jcm13226639

PMCID:: PMC11594709

Abstract Article PDF–990K

Select item 115569342.

Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome

Yuta Inoki, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, China Nagano, Kandai Nozu

Kidney360. 2024 Oct; 5(10): 1510–1517. Published online 2024 Aug 13. doi: 10.34067/KID.0000000000000547

PMCID:: PMC11556934

Abstract Article PDF–341K

Select item 113618063.

Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants

Mónica Furlano, Melissa Pilco-Teran, Marc Pybus, Víctor Martínez, Miriam Aza-Carmona, Asunción Rius Peris, Vanessa Pérez-Gomez, Gerson Berná, Jaime Mazon, Jonathan Hernández, Leonor Fayos de Arizón, Elizabet Viera, Ignasi Gich, Hugo Vergara Pérez, Elena Gomá-Garcés, José Luis Albero Dolon, Elisabet Ars, Roser Torra

Nephrol Dial Transplant. 2024 Sep; 39(9): 1442–1448. Published online 2024 Feb 5. doi: 10.1093/ndt/gfae031

PMCID:: PMC11361806

Abstract Article PDF–1.7M

Select item 113539004.

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children

Vasileia Christodoulaki, Konstantina Kosma, Nikolaos M. Marinakis, Faidon-Nikolaos Tilemis, Nikolaos Stergiou, Afroditi Kampouraki, Charalampos Kapogiannis, Vasiliki Karava, Andromachi Mitsioni, Maria Mila, Christina Kanaka-Gantenbein, Periklis Makrythanasis, Maria Tzetis, Joanne Traeger-Synodinos

Genes (Basel) 2024 Aug; 15(8): 1016. Published online 2024 Aug 2. doi: 10.3390/genes15081016

PMCID:: PMC11353900

Abstract Article PDF–228K

Select item 111503035.

X-linked Alport syndrome presenting in mother and son with the same unique histopathological features

Nicolas A. D. Bergeron, Alexandre P. Garneau, Mathieu Rousseau-Gagnon, Julie Riopel, Paul Isenring

J Nephrol. 2024; 37(3): 769–772. Published online 2024 Apr 26. doi: 10.1007/s40620-024-01942-7

PMCID:: PMC11150303

Abstract Article PDF–934K

Select item 111215276.

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease

Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli

Genes (Basel) 2024 May; 15(5): 597. Published online 2024 May 8. doi: 10.3390/genes15050597

PMCID:: PMC11121527

Abstract Article PDF–1.9M

Select item 111161637.

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 110889948.

Explaining Alport syndrome—lessons from the adult nephrology clinic

Holly Mabillard, Rebecca Ryan, Nik Tzoumas, Susie Gear, John A. Sayer

J Rare Dis (Berlin) 2024; 3(1): 14. Published online 2024 May 13. doi: 10.1007/s44162-024-00036-z

PMCID:: PMC11088994

Abstract Article PDF–3.2M

Select item 110467439.

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family

Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li

BMC Med Genomics. 2024; 17: 108. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01878-8

PMCID:: PMC11046743

Abstract Article PDF–1.8M

Select item 1104655410.

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 1102017611.

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng

BMC Med Genomics. 2024; 17: 89. Published online 2024 Apr 16. doi: 10.1186/s12920-024-01858-y

PMCID:: PMC11020176

Abstract Article PDF–1.5M

Select item 1101770512.

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings

Clara Schott, Samantha Colaiacovo, Cadence Baker, Matthew A. Weir, Dervla M. Connaughton

Can J Kidney Health Dis. 2024; 11: 20543581241242562. Published online 2024 Apr 14. doi: 10.1177/20543581241242562

PMCID:: PMC11017705

Abstract Article PDF–911K

Select item 1099002913.

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 1091593014.

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 1060601915.

Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome

Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Maya

Genes (Basel) 2023 Oct; 14(10): 1854. Published online 2023 Sep 23. doi: 10.3390/genes14101854

PMCID:: PMC10606019

Abstract Article PDF–435K

Select item 1057732116.

The Phenotypic Spectrum of COL4A3 Heterozygotes

Kaushal V. Solanki, Yirui Hu, Bryn S. Moore, Vida Abedi, Venkatesh Avula, Tooraj Mirshahi, the Regeneron Genetics Center, Natasha T. Strande, Ion D. Bucaloiu, Alexander R. Chang

Kidney Int Rep. 2023 Oct; 8(10): 2088–2099. Published online 2023 Jul 25. doi: 10.1016/j.ekir.2023.07.010

PMCID:: PMC10577321

Abstract Article PDF–976K

Select item 1053021417.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, A. Neil Turner

Genes (Basel) 2023 Sep; 14(9): 1686. Published online 2023 Aug 25. doi: 10.3390/genes14091686

PMCID:: PMC10530214

Abstract Article PDF–848K

Select item 1043662918.

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome

Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

BMC Med Genomics. 2023; 16: 192. Published online 2023 Aug 18. doi: 10.1186/s12920-023-01623-7

PMCID:: PMC10436629

Abstract Article PDF–2.4M

Select item 1026744719.

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report

Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann

Front Genet. 2023; 14: 1211858. Published online 2023 Jun 1. doi: 10.3389/fgene.2023.1211858

PMCID:: PMC10267447

Abstract Article PDF–600K

Select item 1013326220.

Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea

Ji Hyun Kim, Seon Hee Lim, Ji Yeon Song, Myung Hyun Cho, HyeSun Hyun, Eun Mi Yang, Jung Won Lee, Min Hyun Cho, Min Ji Park, Joo Hoon Lee, Jiwon Jung, Kee Hwan Yoo, Kyung Mi Jang, Ki Soo Pai, Jin-Soon Suh, Mee Kyung Namgoong, Woo Yeong Chung, Su Jin Kim, Eun Young Cho, Kyung Min Kim, Nam Hee Kim, Minsun Kim, Jin Ho Paik, Hee Gyung Kang, Yo Han Ahn, Hae Il Cheong

Sci Rep. 2023; 13: 6827. Published online 2023 Apr 26. doi: 10.1038/s41598-023-34053-7

PMCID:: PMC10133262

Abstract Article PDF–1.3M

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