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Select item 111519661.

PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients

Hamad Ali, Barrak Alahmad, Sarah R. Senum, Samia Warsame, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Malak Alqaddoumi, Fahd Al-Mulla, Peter C. Harris

Am J Nephrol. 2024 Jun; 55(3): 380–388. Published online 2024 Jan 9. doi: 10.1159/000536165

PMCID:: PMC11151966

Abstract Article

Select item 111075742.

Mechanosensor polycystin-1 potentiates differentiation of human osteoblastic cells by upregulating Runx2 expression via induction of JAK2/STAT3 signaling axis

Georgia Dalagiorgou, Christina Piperi, Christos Adamopoulos, Urania Georgopoulou, Antonios N. Gargalionis, Anastasia Spyropoulou, Ilianna Zoi, Marjan Nokhbehsaim, Anna Damanaki, James Deschner, Efthimia K. Basdra, Athanasios G. Papavassiliou

Cell Mol Life Sci. 2017 Mar; 74(5): 921–936. Published online 2016 Oct 3. doi: 10.1007/s00018-016-2394-8

PMCID:: PMC11107574

Abstract Article PDF–5.7M

Select item 111056873.

A role for polycystin-1 and polycystin-2 in neural progenitor cell differentiation

Natalie Winokurow, Stefan Schumacher

Cell Mol Life Sci. 2019 Jul; 76(14): 2851–2869. Published online 2019 Mar 20. doi: 10.1007/s00018-019-03072-x

PMCID:: PMC11105687

Abstract Article PDF–14M

Select item 109775674.

A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease

Ting Wei, Bing Zhang, Wei Tang, Xin Li, Zhuang Shuai, Tao Tang, Yueyang Zhang, Lin Deng, Qingsong Liu

Medicine (Baltimore) 2024 Mar 29; 103(13): e27853. Published online 2024 Mar 29. doi: 10.1097/MD.0000000000027853

PMCID:: PMC10977567

Abstract Article PDF–798K

Select item 109471535.

A Common Intronic Single Nucleotide Variant Modifies PKD1 Expression Level

Zhengmao Zhang, Jon Blumenfeld, Andrew Ramnauth, Irina Barash, Pengbo Zhou, Daniel Levine, Thomas Parker, Hanna Rennert

Clin Genet. Author manuscript; available in PMC 2024 Mar 18.

Published in final edited form as: Clin Genet. 2022 Dec; 102(6): 483–493. Published online 2022 Sep 14. doi: 10.1111/cge.14214

PMCID:: PMC10947153

Abstract Article PDF–1.4M

Select item 106857726.

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease

Maryam Hosseinpour, Fariba Ardalani, Marzieh Mohseni, Maryam Beheshtian, Sanaz Arzhangi, Shahrzad Ossareh, Hossein Najmabadi, Ali Nobakht, Kimia Kahrizi, Behrooz Broumand

Arch Iran Med. 2022 Sep; 25(9): 600–608. Published online 2022 Sep 1. doi: 10.34172/aim.2022.95

PMCID:: PMC10685772

Abstract Article PDF–1.3M

Select item 105658767.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 104870288.

Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1)

Wendy A. Lea, Thomas Winklhofer, Lesya Zelenchuk, Madhulika Sharma, Jessica Rossol-Allison, Timothy A. Fields, Gail Reif, James P. Calvet, Jason L. Bakeberg, Darren P. Wallace, Christopher J. Ward

Cells. 2023 Sep; 12(17): 2166. Published online 2023 Aug 29. doi: 10.3390/cells12172166

PMCID:: PMC10487028

Abstract Article PDF–66M

Select item 104220699.

A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease

Qianying Zhao, Yu Tan, Xiao Xiao, Qinqin Xiang, Mei Yang, He Wang, Shanling Liu

Mol Genet Genomic Med. 2023 Aug; 11(8): e2217. Published online 2023 Jun 5. doi: 10.1002/mgg3.2217

PMCID:: PMC10422069

Abstract Article PDF–3.3M

Select item 1037707610.

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease

Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie

Biomolecules. 2023 Jul; 13(7): 1020. Published online 2023 Jun 21. doi: 10.3390/biom13071020

PMCID:: PMC10377076

Abstract Article PDF–1.2M

Select item 1035499711.

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay

Xuyan Liu, Xiaomeng Shi, Qing Xin, Zhiying Liu, Fengjiao Pan, Dan Qiao, Mengke Chen, Yiyin Zhang, Wencong Guo, Changying Li, Yan Zhang, Leping Shao, Ruixiao Zhang

BMC Genomics. 2023; 24: 407. Published online 2023 Jul 19. doi: 10.1186/s12864-023-09444-9

PMCID:: PMC10354997

Abstract Article PDF–2.0M

Select item 1029863412.

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles

Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano

Genes (Basel) 2023 Jun; 14(6): 1230. Published online 2023 Jun 7. doi: 10.3390/genes14061230

PMCID:: PMC10298634

Abstract Article PDF–791K

Select item 1015592513.

Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1

Wei-Hui Shi, Zhi-Yang Zhou, Mu-Jin Ye, Ning-Xin Qin, Zi-Ru Jiang, Xuan-You Zhou, Nai-Xin Xu, Xian-Lin Cao, Song-Chang Chen, He-Feng Huang, Chen-Ming Xu

Front Endocrinol (Lausanne) 2023; 14: 1130536. Published online 2023 Apr 19. doi: 10.3389/fendo.2023.1130536

PMCID:: PMC10155925

Abstract Article PDF–4.8M

Select item 980667414.

Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers

SATORU MEGURO, TOMOYUKI KOGUCHI, YUSUKE HAKOZAKI, AKIFUMI ONAGI, KANAKO MATSUOKA, SEIJI HOSHI, JUNYA HATA, YUICHI SATO, HIDENORI AKAIHATA, MASAO KATAOKA, SOICHIRO OGAWA, YOSHIYUKI KOJIMA

Cancer Genomics Proteomics. 2023 Jan-Feb; 20(1): 40–50. Published online 2023 Jan 3. doi: 10.21873/cgp.20363

PMCID:: PMC9806674

Abstract Article PDF–5.1M

Select item 973973615.

Protein Kinase D1 Signaling in Cancer Stem Cells with Epithelial-Mesenchymal Plasticity

Yichen Guo, Yinan Jiang, J. Bart Rose, Ganji Purnachandra Nagaraju, Renata Jaskula-Sztul, Anita B. Hjelmeland, Adam W. Beck, Herbert Chen, Bin Ren

Cells. 2022 Dec; 11(23): 3885. Published online 2022 Dec 1. doi: 10.3390/cells11233885

PMCID:: PMC9739736

Abstract Article PDF–3.6M

Select item 964442216.

Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing

Bee Tee Koay, Mei Yee Chiow, Jamiila Ismail, Norfarhana Khairul Fahmy, Seow Yeing Yee, Norhazlin Mustafa, Masita Arip, Adiratna Mat Ripen, Saharuddin Bin Mohamad

Mol Med Rep. 2022 Dec; 26(6): 365. Published online 2022 Oct 24. doi: 10.3892/mmr.2022.12882

PMCID:: PMC9644422

Abstract Article PDF–2.4M

Select item 958911117.

Involvement of ceramide biosynthesis in increased extracellular vesicle release in Pkd1 knock out cells

Valentina Carotti, Jenny van der Wijst, Eric H. J. Verschuren, Luco Rutten, Nico Sommerdijk, Charlotte Kaffa, Vera Sommers, Juan P. Rigalli, Joost G. J. Hoenderop

Front Endocrinol (Lausanne) 2022; 13: 1005639. Published online 2022 Oct 10. doi: 10.3389/fendo.2022.1005639

PMCID:: PMC9589111

Abstract Article PDF–3.0M

Select item 934857618.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 926261419.

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

Abstract Article PDF–3.6M

Select item 889702220.

Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy

Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang

Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003

PMCID:: PMC8897022

Abstract Article PDF–3.0M

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