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Items: 1 to 20 of 72

1.
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
AbstractArticlePDF–3.1M
2.
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li
BMC Med Genomics. 2024; 17: 108. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01878-8
PMCID:
PMC11046743
AbstractArticlePDF–1.8M
3.
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
4.
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
AbstractArticlePDF–3.0M
5.
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
AbstractArticlePDF–1.1M
6.
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
AbstractArticlePDF–2.4M
7.
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
8.
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
AbstractArticlePDF–2.2M
9.
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
AbstractArticlePDF–881K
10.
Flotillin-2 regulates epidermal growth factor receptor activation, degradation by Cbl-mediated ubiquitination, and cancer growth
David J. Wisniewski, Mariya S. Liyasova, Soumya Korrapati, Xu Zhang, Shashikala Ratnayake, Qingrong Chen, Samuel F. Gilbert, Alexis Catalano, Donna Voeller, Daoud Meerzaman, Udayan Guha, Natalie Porat-Shliom, Christina M. Annunziata, Stanley Lipkowitz
J Biol Chem. 2023 Jan; 299(1): 102766. Published online 2022 Dec 5. doi: 10.1016/j.jbc.2022.102766
PMCID:
PMC9823131
AbstractArticlePDF–2.5M
11.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
12.
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
AbstractArticlePDF–1.3M
13.
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
AbstractArticlePDF–6.0M
14.
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
15.
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
AbstractArticlePDF–3.1M
16.
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
17.
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
18.
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
AbstractArticlePDF–2.2M
19.
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
20.
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
AbstractArticlePDF–2.0M

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