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Select item 112292691.

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome

Duocai Wang, Meize Pan, Hang Li, Minchun Li, Ping Li, Fu Xiong, Hongbo Xiao

BMC Med Genomics. 2024; 17: 181. Published online 2024 Jul 8. doi: 10.1186/s12920-024-01953-0

PMCID:: PMC11229269

Abstract Article PDF–3.1M

Select item 109102132.

Genetic diagnosis of Alport syndrome in 16 Chinese families

Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang

Mol Genet Genomic Med. 2024 Mar; 12(3): e2406. Published online 2024 Mar 3. doi: 10.1002/mgg3.2406

PMCID:: PMC10910213

Abstract Article PDF–994K

Select item 106060193.

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 101015894.

Genetic Variants of the COL4A3, COL4A4, and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients

Xiaohan Yuan, Qing Su, Hui Wang, Sufang Shi, Lijun Liu, Jicheng Lv, Suxia Wang, Li Zhu, Hong Zhang

J Am Soc Nephrol. 2023 Jan; 34(1): 132–144. Published online 2022 Oct 5. doi: 10.1681/ASN.2021111447

PMCID:: PMC10101589

Abstract Article

Select item 97176345.

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

Abstract Article PDF–3.1M

Select item 92878576.

COL4A4 variant recently identified: lessons learned in variant interpretation—a case report

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 92316237.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

Select item 89775498.

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 88155929.

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 827594210.

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 816503011.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 776754912.

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 737165813.

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 676740814.

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically

Aya Imafuku, Kandai Nozu, Naoki Sawa, Eiko Hasegawa, Rikako Hiramatsu, Masahiro Kawada, Junichi Hoshino, Kiho Tanaka, Yasuo Ishii, Kenmei Takaichi, Takeshi Fujii, Kenichi Ohashi, Kazumoto Iijima, Yoshifumi Ubara

Nephrology (Carlton) 2018 Oct; 23(10): 940–947. Published online 2018 Sep 24. doi: 10.1111/nep.13115

PMCID:: PMC6767408

Abstract Article PDF–3.0M

Select item 639092515.

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS

Tony Yao, Khalil Udwan, Rohan John, Akanchaya Rana, Amirreza Haghighi, Lizhen Xu, Saidah Hack, Heather N. Reich, Michelle Adrienne Hladunewich, Daniel C. Cattran, Andrew D. Paterson, York Pei, Moumita Barua

Clin J Am Soc Nephrol. 2019 Feb 7; 14(2): 213–223. Published online 2019 Jan 15. doi: 10.2215/CJN.08750718

PMCID:: PMC6390925

Abstract Article

Select item 621153916.

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 616668217.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 543671318.

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li

PLoS One. 2017; 12(5): e0177685. Published online 2017 May 18. doi: 10.1371/journal.pone.0177685

PMCID:: PMC5436713

Abstract Article PDF–1.6M

Select item 532879219.

Collagen IV Diseases: A Focus on the Glomerular Basement Membrane in Alport Syndrome

Dominic Cosgrove, Shiguang Liu

Matrix Biol. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Matrix Biol. 2017 Jan; 57-58: 45–54. Published online 2016 Aug 27. doi: 10.1016/j.matbio.2016.08.005

PMCID:: PMC5328792

Abstract Article PDF–1.1M

Select item 520687020.

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

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