PMC Articles for MedGen (Select 1648334) - PMC

Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova

Front Med (Lausanne) 2023; 10: 1096869. Published online 2023 Feb 8. doi: 10.3389/fmed.2023.1096869

PMCID:: PMC9948603

Abstract Article PDF–640K

Select item 88155924.

Heterozygous Urinary Abnormality–Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome

Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Rini Rossanti, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Kazumoto Iijima, Kandai Nozu

Kidney360. 2020 Sep 24; 1(9): 936–942. Published online 2020 Jul 16. doi: 10.34067/KID.0000372019

PMCID:: PMC8815592

Abstract Article PDF–606K

Select item 83709565.

Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome

Yanqin Zhang, Jan Böckhaus, Fang Wang, Suxia Wang, Diana Rubel, Oliver Gross, Jie Ding

Pediatr Nephrol. 2021; 36(9): 2719–2730. Published online 2021 Mar 27. doi: 10.1007/s00467-021-05040-9

PMCID:: PMC8370956

Abstract Article PDF–505K

Select item 70829476.

Autosomal Recessive Alport Syndrome Unveiled by Pregnancy

Erika R. Drury, Isaac E. Stillman, Martin R Pollak, Bradley M. Denker

Nephron. Author manuscript; available in PMC 2020 Aug 13.

Published in final edited form as: Nephron. 2019; 143(4): 288–292. Published online 2019 Aug 13. doi: 10.1159/000502147

PMCID:: PMC7082947

Abstract Article PDF–673K

Select item 69498187.

A novel mutation in a Chinese family with autosomal recessive Alport syndrome: a case report

Huili Sun, Xuewen Yu, Shunmin Li, Hua Xu, Jun Yang, Tiegang Yi, Pengxun Han, Mumin Shao

Int J Clin Exp Pathol. 2019; 12(9): 3565–3569. Published online 2019 Sep 1.

PMCID:: PMC6949818

Abstract Article PDF–763K

Select item 68521378.

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report

Petar Šenjug, Tamara Nikuševa Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Martin Ćuk, Slaven Abdović, Danica Galešić Ljubanović

Croat Med J. 2019 Oct; 60(5): 458–462. doi: 10.3325/cmj.2019.60.458

PMCID:: PMC6852137

Article PDF–629K

Select item 64066129.

Features of Autosomal Recessive Alport Syndrome: A Systematic Review

Jiwon M. Lee, Kandai Nozu, Dae Eun Choi, Hee Gyung Kang, II-Soo Ha, Hae II Cheong

J Clin Med. 2019 Feb; 8(2): 178. Published online 2019 Feb 3. doi: 10.3390/jcm8020178

PMCID:: PMC6406612

Abstract Article PDF–1.2M

Select item 541373310.

Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes

Jun-ya Kaimori, Naotsugu Ichimaru, Yoshitaka Isaka, Fusako Hashimoto, Xuejun Fu, Yuya Hashimura, Hiroshi Kaito, Kazumoto Iijima, Masahiro Kyo, Tomoko Namba, Yoshitsugu Obi, Masaki Hatanaka, Isao Matsui, Yoshitsugu Takabatake, Masayoshi Okumi, Koji Yazawa, Norio Nonomura, Hiromi Rakugi, Shiro Takahara

CEN Case Rep. 2013 May; 2(1): 98–101. Published online 2012 Dec 9. doi: 10.1007/s13730-012-0049-7

PMCID:: PMC5413733

Abstract Article PDF–412K

Select item 502311011.

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

PLoS One. 2016; 11(9): e0161802. Published online 2016 Sep 14. doi: 10.1371/journal.pone.0161802

PMCID:: PMC5023110

Abstract Article PDF–276K

Select item 493252112.

COL4A6 is dispensable for autosomal recessive Alport syndrome

Tomohiro Murata, Kan Katayama, Toshitaka Oohashi, Timo Jahnukainen, Tomoko Yonezawa, Yoshikazu Sado, Eiji Ishikawa, Shinsuke Nomura, Karl Tryggvason, Masaaki Ito

Sci Rep. 2016; 6: 29450. Published online 2016 Jul 5. doi: 10.1038/srep29450

PMCID:: PMC4932521

Abstract Article PDF–2.3M

Select item 478552113.

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

Xue J Fu, Naoya Morisada, Fusako Hashimoto, Mariko Taniguchi-Ikeda, Yuya Hashimura, Hiromi Ohtsubo, Takeshi Ninchoji, Hiroshi Kaito, Kandai Nozu, Eihiko Takahashi, Koichi Nakanishi, Hiroki Kurahashi, Kazumoto Iijima

Hum Genome Var. 2014; 1: 14006. Published online 2014 Aug 7. doi: 10.1038/hgv.2014.6

PMCID:: PMC4785521

Abstract Article PDF–1.5M

Select item 383954314.

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Helen Storey, Judy Savige, Vanessa Sivakumar, Stephen Abbs, Frances A. Flinter

J Am Soc Nephrol. 2013 Dec; 24(12): 1945–1954. Published online 2013 Sep 19. doi: 10.1681/ASN.2012100985

PMCID:: PMC3839543

Abstract Article

Select item 358227515.

A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Asli Subasioglu Uzak, Bulent Tokgoz, Munis Dundar, Mustafa Tekin

Genet Test Mol Biomarkers. 2013 Mar; 17(3): 260–264. doi: 10.1089/gtmb.2012.0340

PMCID:: PMC3582275

Abstract Article PDF–206K

Select item 137754316.

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

E Boye, G Mollet, L Forestier, L Cohen-Solal, L Heidet, P Cochat, J P Grünfeld, J B Palcoux, M C Gubler, C Antignac

Am J Hum Genet. 1998 Nov; 63(5): 1329–1340. doi: 10.1086/302106

PMCID:: PMC1377543

Summary PDF–689K

Select item 971803917.

Digenic Alport Syndrome

Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P. Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Lipska-Zietkiewicz, Joel T. Gibson

Clin J Am Soc Nephrol. 2022 Nov; 17(11): 1697–1706. Published online 2022 Nov. doi: 10.2215/CJN.03120322