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Items: 1 to 20 of 59

1.
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
ArticlePubReaderPDF–606KCite
2.
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
ArticlePubReaderPDF–505KCite
3.
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
ArticlePubReaderPDF–673KCite
4.
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
ArticlePubReaderPDF–763KCite
5.
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
ArticlePubReaderPDF–629KCite
6.
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
ArticlePubReaderPDF–1.2MCite
7.
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
ArticlePubReaderPDF–412KCite
8.
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
ArticlePubReaderPDF–276KCite
9.
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
ArticlePubReaderPDF–2.3MCite
10.
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
ArticlePubReaderPDF–1.5MCite
11.
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
ArticlePubReaderCite
12.
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
ArticlePubReaderPDF–206KCite
13.
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
SummaryPDF–689KCite
14.
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome
Jennefer Kohler, Kohei Omachi, Vivek Charu, Jeffrey H. Miner, Vivek Bhalla
Kidney360. 2022 Nov 24; 3(11): 1899–1908. Published online 2022 Oct 26. doi: 10.34067/KID.0005472022
PMCID:
PMC9717634
ArticlePubReaderPDF–3.1MCite
15.
“Prokaryotic Pathway” Is Not Prokaryotic: Noncyanobacterial Origin of the Chloroplast Lipid Biosynthetic Pathway Revealed by Comprehensive Phylogenomic Analysis
Naoki Sato, Koichiro Awai
Genome Biol Evol. 2017 Nov; 9(11): 3162–3178. Published online 2017 Nov 14. doi: 10.1093/gbe/evx238
PMCID:
PMC5716074
ArticlePubReaderPDF–610KCite
16.
Glycosulfatase-Encoding Gene Cluster in Bifidobacterium breve UCC2003
Muireann Egan, Hao Jiang, Mary O'Connell Motherway, Stefan Oscarson, Douwe van Sinderen
Appl Environ Microbiol. 2016 Nov 15; 82(22): 6611–6623. Prepublished online 2016 Sep 2. Published online 2016 Oct 27. doi: 10.1128/AEM.02022-16
PMCID:
PMC5086555
ArticlePubReaderPDF–2.0MCite
17.
Alport Syndrome in Women and Girls
Judy Savige, Deb Colville, Michelle Rheault, Susie Gear, Rachel Lennon, Sharon Lagas, Moira Finlay, Frances Flinter
Clin J Am Soc Nephrol. 2016 Sep 7; 11(9): 1713–1720. Published online 2016 Jun 10. doi: 10.2215/CJN.00580116
PMCID:
PMC5012472
ArticlePubReaderCite
18.
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome
Naohiro Kamiyoshi, Kandai Nozu, Xue Jun Fu, Naoya Morisada, Yoshimi Nozu, Ming Juan Ye, Aya Imafuku, Kenichiro Miura, Tomohiko Yamamura, Shogo Minamikawa, Akemi Shono, Takeshi Ninchoji, Ichiro Morioka, Koichi Nakanishi, Norishige Yoshikawa, Hiroshi Kaito, Kazumoto Iijima
Clin J Am Soc Nephrol. 2016 Aug 8; 11(8): 1441–1449. Published online 2016 Jun 8. doi: 10.2215/CJN.01000116
PMCID:
PMC4974872
ArticlePubReaderCite
19.
Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment
Munkyung Kim, Alessandro Piaia, Neeta Shenoy, David Kagan, Berangere Gapp, Benjamin Kueng, Delphine Weber, William Dietrich, Iwona Ksiazek
PLoS One. 2015; 10(11): e0141231. Published online 2015 Nov 10. doi: 10.1371/journal.pone.0141231
PMCID:
PMC4640715
ArticlePubReaderPDF–20MCite
20.
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
H H Lemmink, W N Nillesen, T Mochizuki, C H Schröder, H G Brunner, B A van Oost, L A Monnens, H J Smeets
J Clin Invest. 1996 Sep 1; 98(5): 1114–1118. doi: 10.1172/JCI118893
PMCID:
PMC507532
SummaryPDF–191KCite

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