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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 106595963.

Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports

Xiaoli Gao, Meilu Li, Kan Wang, Zengyan Li, Cha Han

Medicine (Baltimore) 2023 Nov 17; 102(46): e36057. Published online 2023 Nov 17. doi: 10.1097/MD.0000000000036057

PMCID:: PMC10659596

Abstract Article PDF–792K

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 99224685.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Abstract Article PDF–4.9M

Select item 99018996.

Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population

Matija Horaček, Tamara Nikuševa Martić, Petar Šenjug, Marija Šenjug Perica, Maja Oroz, Sania Kuzmac, Dragan Klarić, Merica Glavina Durdov, Marijan Saraga, Danko Milošević, Danica Batinić, Marijana Ćorić, Frane Paić, Danica Galešić Ljubanović

Biomol Biomed. 2023 Feb 1; 23(1): 89–100. Published online 2023 Jan 6. doi: 10.17305/bjbms.2022.7567

PMCID:: PMC9901899

Abstract Article PDF–5.4M

Select item 94339387.

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698

PMCID:: PMC9433938

Abstract Article PDF–9.3M

Select item 92763948.

Association between COL4A3 variant rs55703767 and susceptibility to diabetic kidney disease in patients with type 2 diabetes mellitus: results from the INDEED cohort study

Zihan Li, Zijun Sun, Dongyuan Chang, Li Zhu, Min Chen, Minghui Zhao

Chin Med J (Engl) 2022 May 5; 135(9): 1129–1130. Published online 2022 Feb 16. doi: 10.1097/CM9.0000000000001955

PMCID:: PMC9276394

Article PDF–98K

Select item 89775499.

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 885462610.

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige

Sci Rep. 2022; 12: 2722. Published online 2022 Feb 17. doi: 10.1038/s41598-022-06525-9

PMCID:: PMC8854626

Abstract Article PDF–1.4M

Select item 881559211.

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 876316012.

Guidelines for Genetic Testing and Management of Alport Syndrome

Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter

Clin J Am Soc Nephrol. 2022 Jan; 17(1): 143–154. Published online 2022 Jan. doi: 10.2215/CJN.04230321

Correction in:: Clin J Am Soc Nephrol. 2023 Apr; 18(4): 510.

PMCID:: PMC8763160

Abstract Article

Select item 872984013.

Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

Joel Gibson, Rachel Fieldhouse, Melanie M.Y. Chan, Omid Sadeghi-Alavijeh, Leslie Burnett, Valerio Izzi, Anton V. Persikov, Daniel P. Gale, Helen Storey, Judy Savige, on behalf of the Genomics England Research Consortium

J Am Soc Nephrol. 2021 Sep; 32(9): 2273–2290. Published online 2021 Sep. doi: 10.1681/ASN.2020071065

PMCID:: PMC8729840

Abstract Article

Select item 807872814.

Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics

Alexandra Naba, Oliver M. T. Pearce, Amanda Del Rosario, Duanduan Ma, Huiming Ding, Vinothini Rajeeve, Pedro R. Cutillas, Frances R. Balkwill, Richard O. Hynes

J Proteome Res. Author manuscript; available in PMC 2021 Apr 27.

Published in final edited form as: J Proteome Res. 2017 Aug 4; 16(8): 3083–3091. Published online 2017 Jul 19. doi: 10.1021/acs.jproteome.7b00191

PMCID:: PMC8078728

Abstract Article PDF–2.1M

Select item 778632615.

NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation

Liping Sun, Xinzhou Zhang, Zhen Wang

Biosci Rep. 2021 Jan 29; 41(1): BSR20203248. Published online 2021 Jan 5. doi: 10.1042/BSR20203248

PMCID:: PMC7786326

Abstract Article PDF–636K

Select item 752370616.

Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis

Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani

Oncogene. Author manuscript; available in PMC 2020 Sep 29.

Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9

PMCID:: PMC7523706

Abstract Article PDF–2.3M

Select item 744841417.

Prognostic significance of abnormal matrix collagen remodeling in colorectal cancer based on histologic and bioinformatics analysis

Yuqi Liang, Zhihao Lv, Guohang Huang, Jingchun Qin, Huixuan Li, Feifei Nong, Bin Wen

Oncol Rep. 2020 Oct; 44(4): 1671–1685. Published online 2020 Aug 11. doi: 10.3892/or.2020.7729

PMCID:: PMC7448414

Abstract Article PDF–1.9M

Select item 737165818.

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 676740819.

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 644481220.

Type IV collagen turnover is predictive of mortality in COPD: a comparison to fibrinogen in a prospective analysis of the ECLIPSE cohort

Sarah Rank Rønnow, Jannie Marie Bülow Sand, Lasse Løcke Langholm, Tina Manon-Jensen, Morten Asser Karsdal, Ruth Tal-Singer, Bruce E. Miller, Jørgen Vestbo, Diana Julie Leeming

Respir Res. 2019; 20: 63. Published online 2019 Apr 1. doi: 10.1186/s12931-019-1026-x

PMCID:: PMC6444812

Abstract Article PDF–1.0M

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