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Items: 1 to 20 of 65

1.
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
AbstractArticlePDF–994K
2.
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
AbstractArticlePDF–792K
3.
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
AbstractArticle
4.
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
AbstractArticlePDF–4.9M
5.
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
AbstractArticlePDF–5.4M
6.
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
AbstractArticlePDF–9.3M
7.
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
ArticlePDF–98K
8.
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
AbstractArticlePDF–1.2M
9.
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
AbstractArticlePDF–1.4M
10.
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
AbstractArticlePDF–606K
11.
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
AbstractArticle
12.
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
AbstractArticle
13.
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
AbstractArticlePDF–2.1M
14.
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
AbstractArticlePDF–636K
15.
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
AbstractArticlePDF–2.3M
16.
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
AbstractArticlePDF–1.9M
17.
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
AbstractArticlePDF–459K
18.
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
AbstractArticlePDF–3.0M
19.
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
AbstractArticlePDF–1.0M
20.
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
AbstractArticle

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