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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 68545464.

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 46890535.

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 44961426.

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 41865057.

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 40312308.

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 39778089.

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 366725810.

Genome-wide Association of Single-Nucleotide Polymorphisms With Weight Loss Outcomes After Roux-en-Y Gastric Bypass Surgery

Erica S. Rinella, Christopher Still, Yongzhao Shao, G. Craig Wood, Xin Chu, Brenda Salerno, Glenn S. Gerhard, Harry Ostrer

J Clin Endocrinol Metab. 2013 Jun; 98(6): E1131–E1136. Published online 2013 Apr 30. doi: 10.1210/jc.2012-3421

PMCID:: PMC3667258

Abstract Article

Select item 322420711.

Hepatorenal Findings in Obligate Heterozygotes for Autosomal Recessive Polycystic Kidney Disease

Meral Gunay-Aygun, Ismail Baris Turkbey, Joy Bryant, Kailash T. Daryanani, Maya Tuchman Gerstein, Katie Piwnica-Worms, Peter Choyke, Theo Heller, William A. Gahl

Mol Genet Metab. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Mol Genet Metab. 2011 Dec; 104(4): 677–681. Published online 2011 Sep 8. doi: 10.1016/j.ymgme.2011.09.001

PMCID:: PMC3224207

Article PDF–365K

Select item 310249712.

Germline PKHD1 mutations are protective against colorectal cancer

Christopher J Ward, Yanhong Wu, Ruth A Johnson, John R Woollard, Eric J Bergstralh, Mine S Cicek, Jason Bakeberg, Sandro Rossetti, Christina M Heyer, Gloria M Petersen, Noralene M Lindor, Stephen N Thibodeau, Peter C Harris, Vicente E Torres, Marie C Hogan, Lisa A Boardman

Hum Genet. Author manuscript; available in PMC 2011 May 26.

Published in final edited form as: Hum Genet. 2011 Mar; 129(3): 345–349. Published online 2011 Jan 28. doi: 10.1007/s00439-011-0950-8

PMCID:: PMC3102497

Abstract Article PDF–295K

Select item 287930113.

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Meral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, Maya Tuchman, Jennifer Graf, Joy C. Bryant, Robert Kleta, Angelica Garcia, Hailey Edwards, Katie Piwnica-Worms, David Adams, Isa Bernardini, Roxanne E. Fischer, Donna Krasnewich, Neal Oden, Alex Ling, Zenaide Quezado, Colleen Zak, Kailash T. Daryanani, Baris Turkbey, Peter Choyke, Lisa M. Guay-Woodford, William A. Gahl

Clin J Am Soc Nephrol. 2010 Jun; 5(6): 972–984. doi: 10.2215/CJN.07141009

PMCID:: PMC2879301

Abstract Article

Select item 285321614.

Abnormalities in focal adhesion complex formation, regulation, and function in human autosomal recessive polycystic kidney disease epithelial cells

Sharon Israeli, Kurt Amsler, Nadezhda Zheleznova, Patricia D. Wilson

Am J Physiol Cell Physiol. 2010 Apr; 298(4): C831–C846. Published online 2009 Nov 18. doi: 10.1152/ajpcell.00032.2009

PMCID:: PMC2853216

Abstract Article

Select item 281851315.

PKHD1 Sequence Variations in 78 Children and Adults with Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis

Meral Gunay-Aygun, Maya Tuchman, Esperanza Font-Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G. Ziegler, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Roxanne Fischer, Marjan Huizing, Lisa Guay-Woodford, William A. Gahl

Mol Genet Metab. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Mol Genet Metab. 2010 Feb; 99(2): 160. Published online 2009 Oct 20. doi: 10.1016/j.ymgme.2009.10.010

PMCID:: PMC2818513

Abstract Article PDF–130K

Select item 173593516.

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)

C Bergmann, F Kupper, C Schmitt, U Vester, T Neuhaus, J Senderek, K Zerres

J Med Genet. 2005 Oct; 42(10): e63. doi: 10.1136/jmg.2005.032318

PMCID:: PMC1735935

Summary PDF–142K

Select item 44760517.

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, Xiaoying Hou, Thomas Eggermann, Zhiyong Ren, Carsten Bergmann, Jan Senderek, Ernie Esquivel, Raoul Zeltner, Sabine Rudnik-Schöneborn, Michael Mrug, William Sweeney, Ellis D. Avner, Klaus Zerres, Lisa M. Guay-Woodford, Stefan Somlo, Gregory G. Germino

Am J Hum Genet. 2002 May; 70(5): 1305–1317. Published online 2002 Mar 15. doi: 10.1086/340448

PMCID:: PMC447605

Abstract Article PDF–584K

Select item 644237518.

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 195538319.

Polyductin Undergoes Notch-Like Processing And Regulated Release From Primary Cilia

Jun-ya Kaimori, Yasuyuki Nagasawa, Luis F Menezes, Miguel A Garcia-Gonzalez, Jie Deng, Enyu Imai, Luiz Onuchic, Lisa Guay-Woodford, Gregory G Germino

Hum Mol Genet. Author manuscript; available in PMC 2008 Apr 15.

Published in final edited form as: Hum Mol Genet. 2007 Apr 15; 16(8): 942–956. doi: 10.1093/hmg/ddm039

PMCID:: PMC1955383

Abstract Article PDF–2.0M

Select item 699273320.

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

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