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Items: 1 to 20 of 41

1.
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports
Carola Giacobbe, Fabiola Di Dato, Daniela Palma, Michele Amitrano, Raffaele Iorio, Giuliana Fortunato
Mol Genet Genomic Med. 2022 Aug; 10(8): e1998. Published online 2022 Jun 17. doi: 10.1002/mgg3.1998
PMCID:
PMC9356553
AbstractArticlePDF–768K
2.
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
Shinya Ishiko, Naoya Morisada, Atsushi Kondo, Sadayuki Nagai, Yuya Aoto, Eri Okada, Rini Rossanti, Nana Sakakibara, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Takeshi Ninchoji, Hiroshi Kaito, Riku Hamada, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
Clin Exp Nephrol. 2022; 26(2): 140–153. Published online 2021 Sep 18. doi: 10.1007/s10157-021-02135-3
PMCID:
PMC8770369
AbstractArticlePDF–1015K
3.
The carboxy‐terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC‐activation
Claudia Dafinger, Amrei M. Mandel, Alina Braun, Heike Göbel, Kathrin Burgmaier, Laura Massella, Antonio Mastrangelo, Jörg Dötsch, Thomas Benzing, Thomas Weimbs, Bernhard Schermer, Max C. Liebau
J Cell Mol Med. 2020 Dec; 24(24): 14633–14638. Published online 2020 Oct 28. doi: 10.1111/jcmm.16014
PMCID:
PMC7754027
AbstractArticlePDF–855K
4.
AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair
Zhen Chen, Chao Wang, Antrix Jain, Mrinal Srivastava, Mengfan Tang, Huimin Zhang, Xu Feng, Litong Nie, Dan Su, Yun Xiong, Sung Yun Jung, Jun Qin, Junjie Chen
Mol Cell Proteomics. 2020 Mar; 19(3): 467–477. Published online 2020 Jan 3. doi: 10.1074/mcp.RA119.001794
PMCID:
PMC7050103
AbstractArticlePDF–1.8M
5.
Analysis of the polycystin complex (PCC) in human urinary exosome–like vesicles (ELVs)
Wendy A. Lea, Kerri McGreal, Madhulika Sharma, Stephen C. Parnell, Lesya Zelenchuk, M. Cristine Charlesworth, Benjamin J. Madden, Kenneth L. Johnson, Daniel J. McCormick, Marie C. Hogan, Christopher J. Ward
Sci Rep. 2020; 10: 1500. Published online 2020 Jan 30. doi: 10.1038/s41598-020-58087-3
PMCID:
PMC6992733
AbstractArticlePDF–3.1M
6.
Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family
Jin Wang, Dandan Qi, Jialiang Yang, Dingding Zhang, Qingwei Wang, Xueming Ju, Xiang Zhong
Mol Med Rep. 2019 Dec; 20(6): 5059–5063. Published online 2019 Oct 11. doi: 10.3892/mmr.2019.10738
PMCID:
PMC6854546
AbstractArticlePDF–350K
7.
Truncating PKHD1 and PKD2 mutations alter energy metabolism
Phillip Chumley, Juling Zhou, Sylvie Mrug, Balu Chacko, John M. Parant, Anil K. Challa, Landon S. Wilson, Taylor F. Berryhill, Stephen Barnes, Robert A. Kesterson, P. Darwin Bell, Victor M. Darley-Usmar, Bradley K. Yoder, Michal Mrug
Am J Physiol Renal Physiol. 2019 Mar 1; 316(3): F414–F425. Published online 2018 Dec 19. doi: 10.1152/ajprenal.00167.2018
PMCID:
PMC6442375
AbstractArticle
8.
POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1
Boshi Wang, Xiaoli Xu, Zhaojuan Yang, Li Zhang, Yun Liu, Aihui Ma, Guiqin Xu, Ming Tang, Tiantian Jing, Lin Wu, Yongzhong Liu
EBioMedicine. 2019 Mar; 41: 320–332. Published online 2019 Feb 7. doi: 10.1016/j.ebiom.2019.01.058
PMCID:
PMC6441868
AbstractArticlePDF–7.0M
9.
Genetic architecture of human thinness compared to severe obesity
Fernando Riveros-McKay, Vanisha Mistry, Rebecca Bounds, Audrey Hendricks, Julia M. Keogh, Hannah Thomas, Elana Henning, Laura J. Corbin, Understanding Society Scientific Group, Stephen O’Rahilly, Eleftheria Zeggini, Eleanor Wheeler, Inês Barroso, I. Sadaf Farooqi
PLoS Genet. 2019 Jan; 15(1): e1007603. Published online 2019 Jan 24. doi: 10.1371/journal.pgen.1007603
PMCID:
PMC6345421
AbstractArticlePDF–1.3M
10.
Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling
Taylor Richards, Kavindiya Modarage, Charlotte Dean, Aidan McCarthy-Boxer, Helen Hilton, Chris Esapa, Jill Norman, Patricia Wilson, Paraskevi Goggolidou
Biochim Biophys Acta Mol Basis Dis. 2019 Feb 1; 1865(2): 378–390. doi: 10.1016/j.bbadis.2018.11.003
PMCID:
PMC6335440
AbstractArticle
11.
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
AbstractArticlePDF–3.8M
12.
NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology
Jun-ya Kaimori, Cheng-Chao Lin, Patricia Outeda, Miguel A. Garcia-Gonzalez, Luis F. Menezes, Erum A. Hartung, Ao Li, Guanqing Wu, Hideaki Fujita, Yasunori Sato, Yasuni Nakanuma, Satoko Yamamoto, Naotsugu Ichimaru, Shiro Takahara, Yoshitaka Isaka, Terry Watnick, Luiz F. Onuchic, Lisa M. Guay-Woodford, Gregory G. Germino
Sci Rep. 2017; 7: 7733. Published online 2017 Aug 10. doi: 10.1038/s41598-017-08284-4
PMCID:
PMC5552802
AbstractArticlePDF–3.2M
13.
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
Lena Obeidova, Tomas Seeman, Veronika Elisakova, Jana Reiterova, Alena Puchmajerova, Jitka Stekrova
BMC Med Genet. 2015; 16: 116. Published online 2015 Dec 22. doi: 10.1186/s12881-015-0261-3
PMCID:
PMC4689053
AbstractArticlePDF–586K
14.
Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas
Livia Dorn, Luís F Menezes, Gregor Mikuz, Herwart F Otto, Luiz F Onuchic, Consolato Sergi
J Cell Mol Med. 2009 Jul; 13(7): 1279–1290. Published online 2008 Oct 6. doi: 10.1111/j.1582-4934.2008.00519.x
PMCID:
PMC4496142
AbstractArticlePDF–1.6M
15.
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1
Ravindra Boddu, Chaozhe Yang, Amber K. O’Connor, Robert Curtis Hendrickson, Braden Boone, Xiangqin Cui, Miguel Garcia-Gonzalez, Peter Igarashi, Luiz F. Onuchic, Gregory G. Germino, Lisa M. Guay-Woodford
J Mol Med (Berl) Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: J Mol Med (Berl). 2014 Oct; 92(10): 1045–1056. Published online 2014 Jul 3. doi: 10.1007/s00109-014-1185-7
PMCID:
PMC4197071
AbstractArticlePDF–2.8M
16.
Transcriptional Complexity in Autosomal Recessive Polycystic Kidney Disease
Valeska Frank, Klaus Zerres, Carsten Bergmann
Clin J Am Soc Nephrol. 2014 Oct 7; 9(10): 1729–1736. Published online 2014 Aug 7. doi: 10.2215/CJN.00920114
PMCID:
PMC4186505
AbstractArticle
17.
The Cytoplasmic Tail of FPC Antagonizes the Full-Length Protein in the Regulation of mTOR Pathway
Shixuan Wang, Maoqing Wu, Gang Yao, Jingjing Zhang, Jing Zhou
PLoS One. 2014; 9(5): e95630. Published online 2014 May 22. doi: 10.1371/journal.pone.0095630
PMCID:
PMC4031230
AbstractArticlePDF–1.9M
18.
Genome-wide association study and meta-analysis of intraocular pressure
A. Bilge Ozel, Sayoko E. Moroi, David M. Reed, Melisa Nika, Caroline M. Schmidt, Sara Akbari, Kathleen Scott, Frank Rozsa, Hemant Pawar, David C. Musch, Paul R. Lichter, Doug Gaasterland, Kari Branham, Jesse Gilbert, Sarah J. Garnai, Wei Chen, Mohammad Othman, John Heckenlively, Anand Swaroop, Gonçalo Abecasis, David S. Friedman, Don Zack, Allison Ashley-Koch, Megan Ulmer, Jae H. Kang, NEIGHBOR Consortium, Yutao Liu, Brian L. Yaspan, Jonathan Haines, R. Rand Allingham, Michael A. Hauser, Louis Pasquale, Janey Wiggs, Julia E. Richards, Jun Z. Li
Hum Genet. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Hum Genet. 2014 Jan; 133(1): 41–57. Published online 2013 Sep 4. doi: 10.1007/s00439-013-1349-5
PMCID:
PMC3982323
AbstractArticlePDF–896K
19.
Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease
Xiwei Hao, Shiguo Liu, Qian Dong, Hong Zhang, Jing Zhao, Lin Su
PLoS One. 2014; 9(4): e92661. Published online 2014 Apr 7. doi: 10.1371/journal.pone.0092661
PMCID:
PMC3977808
AbstractArticlePDF–772K
20.
RSPO–LGR4 functions via IQGAP1 to potentiate Wnt signaling
Kendra S. Carmon, Xing Gong, Jing Yi, Anthony Thomas, Qingyun Liu
Proc Natl Acad Sci U S A. 2014 Apr 1; 111(13): E1221–E1229. Published online 2014 Mar 17. doi: 10.1073/pnas.1323106111
PMCID:
PMC3977305
AbstractArticlePDF–1.7M

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