PMC Links for GEO Profiles (Select 25171880) - PMC

Links from GEO Profiles

Items: 1 to 20 of 41

<< First< Prev

Page of 3

Next >Last >>

Select item 93565531.

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

Abstract Article PDF–768K

Select item 87703692.

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

Abstract Article PDF–1015K

Select item 77540273.

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

Abstract Article PDF–855K

Select item 70501034.

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

Abstract Article PDF–1.8M

Select item 69927335.

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

Abstract Article PDF–3.1M

Select item 68545466.

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

Abstract Article PDF–350K

Select item 64423757.

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

Abstract Article

Select item 64418688.

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

Abstract Article PDF–7.0M

Select item 63454219.

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

Abstract Article PDF–1.3M

Select item 633544010.

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

Abstract Article

Select item 616668211.

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

Abstract Article PDF–3.8M

Select item 555280212.

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

Abstract Article PDF–3.2M

Select item 468905313.

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

Abstract Article PDF–586K

Select item 449614214.

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

Abstract Article PDF–1.6M

Select item 419707115.

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

Abstract Article PDF–2.8M

Select item 418650516.

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

Abstract Article

Select item 403123017.

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

Abstract Article PDF–1.9M

Select item 398232318.

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

Abstract Article PDF–896K

Select item 397780819.

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

Abstract Article PDF–772K

Select item 397730520.

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

Abstract Article PDF–1.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 1 to 20 of 41

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity