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Select item 108914381.

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao

Mol Genet Genomic Med. 2024 Feb; 12(2): e2395. Published online 2024 Feb 23. doi: 10.1002/mgg3.2395

PMCID:: PMC10891438

Article PDF–3.0M

Select item 104446392.

Collagen Type IV Alpha 5 Chain in Bronchiolitis Obliterans Syndrome After Lung Transplant: The First Evidence

M. Armati, S. Cattelan, M. Guerrieri, M. Messina, B. Perea, M. Genovese, M. d’Alessandro, S. Gangi, P. Cameli, F. Perillo, D. Bennett, A. Fossi, Tuscany Transplant Group, E. Bargagli, L. Bergantini

Lung. 2023; 201(4): 363–369. Published online 2023 Jul 4. doi: 10.1007/s00408-023-00632-8

PMCID:: PMC10444639

Article PDF–1.1M

Select item 104366293.

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

Article PDF–2.4M

Select item 100773314.

Type IV collagen α5 chain promotes luminal breast cancer progression through c-Myc-driven glycolysis

Yuexin Wu, Xiangming Liu, Yue Zhu, Yuemei Qiao, Yuan Gao, Jianfeng Chen, Gaoxiang Ge

J Mol Cell Biol. 2022 Oct; 14(10): mjac068. Published online 2022 Dec 9. doi: 10.1093/jmcb/mjac068

PMCID:: PMC10077331

Article PDF–2.2M

Select item 99501645.

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

Eri Okada, Yuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Ryota Suzuki, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Kandai Nozu

Clin Exp Nephrol. 2023; 27(3): 218–226. Published online 2022 Nov 12. doi: 10.1007/s10157-022-02294-x

PMCID:: PMC9950164

Article PDF–881K

Select item 92533296.

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige

Sci Rep. 2022; 12: 11257. Published online 2022 Jul 4. doi: 10.1038/s41598-022-14928-x

PMCID:: PMC9253329

Article PDF–1.3M

Select item 88007107.

Ⅳ型胶原α5链基因突变致奥尔波特综合征两家系遗传学分析

Qing YE, Yingying ZHANG, Jingjing WANG, Jianhua MAO

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Aug 25; 48(4): 384–389. Chinese. doi: 10.3785/j.issn.1008-9292.2019.08.06

PMCID:: PMC8800710

Article PDF–3.1M

Select item 79432888.

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

Wen-yu Gong, Fan-na Liu, Liang-hong Yin, Jun Zhang

Biomed Res Int. 2021; 2021: 6664973. Published online 2021 Mar 2. doi: 10.1155/2021/6664973

PMCID:: PMC7943288

Article PDF–2.0M

Select item 75495499.

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome

Ole Magnus Bjorgaas Helle, Torkild Høieggen Pedersen, Lilian Bomme Ousager, Mads Thomassen, Jens Michael Hertz

Mol Genet Genomic Med. 2020 Oct; 8(10): e1452. Published online 2020 Aug 18. doi: 10.1002/mgg3.1452

PMCID:: PMC7549549

Article PDF–651K

Select item 743475310.

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu

Mol Genet Genomic Med. 2020 Aug; 8(8): e1342. Published online 2020 Jun 16. doi: 10.1002/mgg3.1342

PMCID:: PMC7434753

Article PDF–855K

Select item 697460411.

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families

Yanqin Zhang, Jie Ding, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Xiaoyu Liu, Ke Xu, Fang Wang

Eur J Hum Genet. 2020 Feb; 28(2): 244–252. Published online 2019 Oct 1. doi: 10.1038/s41431-019-0523-1

PMCID:: PMC6974604

Article PDF–420K

Select item 672209612.

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

Tomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima

Sci Rep. 2019; 9: 12696. Published online 2019 Sep 3. doi: 10.1038/s41598-019-48990-9

PMCID:: PMC6722096

Article PDF–1.5M

Select item 645099613.

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5

Yasuyo Kashiwagi, Shinji Suzuki, Kazushi Agata, Yasuyuki Morishima, Natsuko Inagaki, Hironao Numabe, Hisashi Kawashima

CEN Case Rep. 2019 May; 8(2): 75–78. Published online 2018 Oct 6. doi: 10.1007/s13730-018-0368-4

PMCID:: PMC6450996

Article PDF–1.1M

Select item 630389514.

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu, Jie Ding

Orphanet J Rare Dis. 2018; 13: 229. Published online 2018 Dec 22. doi: 10.1186/s13023-018-0974-4

PMCID:: PMC6303895

Article PDF–969K

Select item 422076415.

X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5

Kandai Nozu, Igor Vorechovsky, Hiroshi Kaito, Xue Jun Fu, Koichi Nakanishi, Yuya Hashimura, Fusako Hashimoto, Koichi Kamei, Shuichi Ito, Yoshitsugu Kaku, Toshiyuki Imasawa, Katsumi Ushijima, Junya Shimizu, Yoshio Makita, Takao Konomoto, Norishige Yoshikawa, Kazumoto Iijima

Clin J Am Soc Nephrol. 2014 Nov 7; 9(11): 1958–1964. Published online 2014 Sep 2. doi: 10.2215/CJN.04140414