PMC Links for Gene (Select 1286) - PMC

Jenelle Cocorpus, Megan M Hager, Corinne Benchimol, Vanesa Bijol, Fadi Salem, Sumit Punj, Laura Castellanos, Pamela Singer, Christine B Sethna, Abby Basalely

BMC Nephrol. 2022; 23: 253. Published online 2022 Jul 16. doi: 10.1186/s12882-022-02866-9

PMCID:: PMC9287857

Abstract Article PDF–1.3M

Select item 82759424.

Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series

Petar Šenjug, Tamara Nikuševa, Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Kristina Gotovac, Jerčić, Krešimir Galešić, Danica Galešić, Ljubanović

Croat Med J. 2021 Jun; 62(3): 204–214. doi: 10.3325/cmj.2021.62.204

PMCID:: PMC8275942

Abstract Article PDF–1.2M

Select item 77675495.

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

Liang‐Liang Fan, Lv Liu, Fang‐Mei Luo, Ran Du, Chen‐Yu Wang, Yi Dong, Ji‐Shi Liu

Mol Genet Genomic Med. 2020 Dec; 8(12): e1545. Published online 2020 Nov 7. doi: 10.1002/mgg3.1545

PMCID:: PMC7767549

Abstract Article PDF–982K

Select item 52068706.

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

Sheng Deng, Hongbo Xu, Jinzhong Yuan, Jingjing Xiao, Lamei Yuan, Xiong Deng, Liping Guan, Anding Zhu, Pengfei Rong, Jianguo Zhang, Hao Deng

Indian J Med Res. 2016 Aug; 144(2): 200–205. doi: 10.4103/0971-5916.195026

PMCID:: PMC5206870

Abstract Article PDF–728K

Select item 51343837.

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis

Yuan Wu, Pengzhi Hu, Hongbo Xu, Jinzhong Yuan, Lamei Yuan, Wei Xiong, Xiong Deng, Hao Deng

J Cell Mol Med. 2016 Dec; 20(12): 2328–2332. Published online 2016 Jul 29. doi: 10.1111/jcmm.12924

PMCID:: PMC5134383

Abstract Article PDF–213K

Select item 47357468.

A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy

Yan Xu, Min Guo, Hui Dong, Wei Jiang, Ruixia Ma, Shiguo Liu, Shenqian Li

Sci Rep. 2016; 6: 20244. Published online 2016 Feb 2. doi: 10.1038/srep20244

PMCID:: PMC4735746

Abstract Article PDF–1.2M

Select item 33785279.

Common Variants in the COL4A4 Gene Confer Susceptibility to Lattice Degeneration of the Retina

Akira Meguro, Hidenao Ideta, Masao Ota, Norihiko Ito, Ryuichi Ideta, Junichi Yonemoto, Masaki Takeuchi, Riyo Uemoto, Tadayuki Nishide, Yasuhito Iijima, Tatsukata Kawagoe, Eiichi Okada, Tomoko Shiota, Yuta Hagihara, Akira Oka, Hidetoshi Inoko, Nobuhisa Mizuki

PLoS One. 2012; 7(6): e39300. Published online 2012 Jun 19. doi: 10.1371/journal.pone.0039300

PMCID:: PMC3378527

Abstract Article PDF–1.1M

Select item 137754310.

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 50753211.

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

Summary PDF–191K

Select item 897754912.

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang

Front Med (Lausanne) 2022; 9: 838983. Published online 2022 Mar 21. doi: 10.3389/fmed.2022.838983

PMCID:: PMC8977549

Abstract Article PDF–1.2M

Select item 881559213.

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 737165814.

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists

Aya Imafuku, Kandai Nozu, Naoki Sawa, Koichi Nakanishi, Yoshifumi Ubara

Clin Exp Nephrol. 2020; 24(8): 651–656. Published online 2020 Mar 30. doi: 10.1007/s10157-020-01880-1

PMCID:: PMC7371658

Abstract Article PDF–459K

Select item 621153915.

Structures of collagen IV globular domains: insight into associated pathologies, folding and network assembly

Patricia Casino, Roberto Gozalbo-Rovira, Jesús Rodríguez-Díaz, Sreedatta Banerjee, Ariel Boutaud, Vicente Rubio, Billy G. Hudson, Juan Saus, Javier Cervera, Alberto Marina

IUCrJ. 2018 Nov 1; 5(Pt 6): 765–779. Published online 2018 Oct 10. doi: 10.1107/S2052252518012459

Correction in:: IUCrJ. 2020 Jul 1; 7(Pt 4): 777.

PMCID:: PMC6211539

Abstract Article PDF–3.0M

Select item 497487216.

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

Abstract Article

Select item 424546517.

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Andrew F Malone, Paul J Phelan, Gentzon Hall, Umran Cetincelik, Alison Homstad, Andrea Alonso, Ruiji Jiang, Thomas Lindsey, Guanghong Wu, Matthew A Sparks, Stephen R Smith, Nicholas J A Webb, Philip Kalra, Adebowale Adeyemo, Andrey S Shaw, Peter J Conlon, J Charles Jennette, David N Howell, Michelle P Winn, Rasheed A Gbadegesin

Kidney Int. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Kidney Int. 2014 Dec; 86(6): 1253–1259. Published online 2014 Sep 17. doi: 10.1038/ki.2014.305

PMCID:: PMC4245465

Abstract Article PDF–1.1M

Select item 423304118.

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease

Fujun Lin, Fan Bian, Jun Zou, Xiangru Wu, Jianping Shan, Wei Lu, Yao Yao, Gengru Jiang, Daniel Philip Gale

BMC Nephrol. 2014; 15: 175. Published online 2014 Nov 7. doi: 10.1186/1471-2369-15-175

PMCID:: PMC4233041

Abstract Article PDF–1.3M

Select item 383954319.

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 279687520.

Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus

Mirna Štabuc-Šilih, Metka Ravnik-Glavač, Damjan Glavač, Marko Hawlina, Mojca Stražišar

Mol Vis. 2009; 15: 2848–2860. Published online 2009 Dec 20.

PMCID:: PMC2796875

Abstract Article PDF–2.7M

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