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Items: 1 to 20 of 367

1.
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
AbstractArticle
2.
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)
Josefine Theresia Koenigbauer, Laura Fangmann, Charlotte Reinhardt, Alexander Weichert, Wolfgang Henrich, Biskup Saskia, Heinz-Peter Gabriel
Arch Gynecol Obstet. 2024; 309(6): 2613–2622. Published online 2023 Aug 3. doi: 10.1007/s00404-023-07165-8
PMCID:
PMC11147883
AbstractArticlePDF–1.0M
3.
Clinical Characteristics and Kidney Outcomes in Chinese Patients with Autosomal Dominant Polycystic Kidney Disease
Winston Wing-Shing Fung, Cheuk-Chun Szeto, Kai-Ming Chow, Phyllis Mei-Shan Cheng, Vickie Wai-Ki Kwong, Sam Lik-Fung Lau, Wing-Fai Pang, Winnie Chiu-Wing Chu, Albert Chee Meng Ong, Olivier Devuyst, Philip Kam-Tao Li
Kidney360. 2024 May; 5(5): 715–723. Published online 2024 Apr 1. doi: 10.34067/KID.0000000000000433
PMCID:
PMC11146654
AbstractArticlePDF–714K
4.
Functions and pathologies of BiP and its interaction partners
J. Dudek, J. Benedix, S. Cappel, M. Greiner, C. Jalal, L. Müller, R. Zimmermann
Cell Mol Life Sci. 2009 May; 66(9): 1556–1569. Published online 2009 Jan 21. doi: 10.1007/s00018-009-8745-y
PMCID:
PMC11131517
AbstractArticlePDF–2.1M
5.
US Veterans Administration Autosomal Dominant Polycystic Kidney Disease Cohort: Demographic, Comorbidity, and Key Laboratory Data Characteristics
Julia W. Gallini, Christine L. Jasien, Michal Mrug, Xiangqin Cui
Kidney360. 2024 Apr; 5(4): 529–537. Published online 2024 Mar 1. doi: 10.34067/KID.0000000000000405
PMCID:
PMC11093548
AbstractArticlePDF–179K
6.
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease
Amir Ali Mahboobipour, Moein Ala, Javad Safdari Lord, Arash Yaghoobi
Orphanet J Rare Dis. 2024; 19: 175. Published online 2024 Apr 26. doi: 10.1186/s13023-024-03187-w
PMCID:
PMC11055360
AbstractArticlePDF–2.0M
7.
Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms
Matthias Weiand, Vanessa Sandfort, Oksana Nadzemova, Robert Schierwagen, Jonel Trebicka, Bernhard Schlevogt, Iyad Kabar, Hartmut Schmidt, Andree Zibert
Sci Rep. 2024; 14: 9506. Published online 2024 Apr 25. doi: 10.1038/s41598-024-59033-3
PMCID:
PMC11045796
AbstractArticlePDF–1.9M
8.
Mechanosensitive protein polycystin-1 promotes periosteal stem/progenitor cells osteochondral differentiation in fracture healing
Ran Liu, Yu-Rui Jiao, Mei Huang, Nan-Yu Zou, Chen He, Min Huang, Kai-Xuan Chen, Wen-Zhen He, Ling Liu, Yu-Chen Sun, Zhu-Ying Xia, L. Darryl Quarles, Hai-Lin Yang, Wei-Shan Wang, Zhou-Sheng Xiao, Xiang-Hang Luo, Chang-Jun Li
Theranostics. 2024; 14(6): 2544–2559. Published online 2024 Apr 8. doi: 10.7150/thno.93269
PMCID:
PMC11024844
AbstractArticlePDF–10M
9.
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
Gregorio Serra, Vincenzo Antona, Vincenzo Insinga, Giusy Morgante, Alessia Vassallo, Simona La Placa, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Eloisa Gitto, Mario Giuffrè, Giovanni Corsello
Ital J Pediatr. 2024; 50: 67. Published online 2024 Apr 14. doi: 10.1186/s13052-024-01632-x
PMCID:
PMC11017661
AbstractArticlePDF–1.1M
10.
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
AbstractArticlePDF–1.4M
11.
Dysregulation of the Skin–Liver Axis in Prurigo Nodularis: An Integrated Genomic, Transcriptomic, and Population-Based Analysis
Melika Marani, Vrinda Madan, Thomas K. Le, Junwen Deng, Kevin K. Lee, Emily Z. Ma, Shawn G. Kwatra
Genes (Basel) 2024 Feb; 15(2): 146. Published online 2024 Jan 23. doi: 10.3390/genes15020146
PMCID:
PMC10887737
AbstractArticlePDF–3.0M
12.
A synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress
Bogdan I. Fedeles, Rishi Bhardwaj, Yasunobu Ishikawa, Sakunchai Khumsubdee, Matteus Krappitz, Nina Gubina, Isabel Volpe, Denise C. Andrade, Parisa Westergerling, Tobias Staudner, Jake Campolo, Sally S. Liu, Ke Dong, Yiqiang Cai, Michael Rehman, Anna-Rachel Gallagher, Somsak Ruchirawat, Robert G. Croy, John M. Essigmann, Sorin V. Fedeles, Stefan Somlo
Proc Natl Acad Sci U S A. 2024 Jan 23; 121(4): e2317344121. Published online 2024 Jan 19. doi: 10.1073/pnas.2317344121
PMCID:
PMC10823221
AbstractArticlePDF–6.8M
13.
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort
Valeria Aiello, Francesca Ciurli, Amalia Conti, Carlotta Pia Cristalli, Sarah Lerario, Francesca Montanari, Nicola Sciascia, Gisella Vischini, Benedetta Fabbrizio, Roberta Di Costanzo, Giulia Olivucci, Andrea Pietra, Antonia Lopez, Loretta Zambianchi, Gaetano La Manna, Irene Capelli
Genes (Basel) 2024 Jan; 15(1): 3. Published online 2023 Dec 19. doi: 10.3390/genes15010003
PMCID:
PMC10815778
AbstractArticlePDF–1.1M
14.
Thiamet G as a Potential Treatment for Polycystic Kidney Disease
WEN-CHENG SU, CHI-FENG HUNG, YI-CHIEH WANG, HUBERT PENG, WEN-HUNG HUANG, YI-LUN LO, YUN-HWA LO, YI-CHENG CHEN, HSIN-HUI SU, YUNG-LIANG CHEN
In Vivo. 2023 Nov-Dec; 37(6): 2524–2532. Published online 2023 Nov 3. doi: 10.21873/invivo.13360
PMCID:
PMC10621443
AbstractArticlePDF–2.5M
15.
Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
Marija Dubaic, Lucie Peskova, Marek Hampl, Kamila Weissova, Canan Celiker, Natalia A Shylo, Eva Hruba, Michaela Kavkova, Tomas Zikmund, Scott D Weatherbee, Jozef Kaiser, Tomas Barta, Marcela Buchtova
Life Sci Alliance. 2023 Dec; 6(12): e202302073. Published online 2023 Oct 20. doi: 10.26508/lsa.202302073
PMCID:
PMC10589122
AbstractArticlePDF–5.2M
16.
Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease
Melissa M. Boerrigter, Renée Duijzer, René H. M. te Morsche, Joost P. H. Drenth
Genes (Basel) 2023 Sep; 14(9): 1755. Published online 2023 Sep 2. doi: 10.3390/genes14091755
PMCID:
PMC10530326
AbstractArticlePDF–11M
17.
Factors Associated With the Development and Severity of Polycystic Liver in Patients With Autosomal Dominant Polycystic Kidney Disease
Yaerim Kim, Hayne Cho Park, Hyunjin Ryu, Yong Chul Kim, Curie Ahn, Kyu-Beck Lee, Yeong Hoon Kim, Seungyeup Han, Eun Hui Bae, Kyungjo Jeong, Jungmin Choi, Kook-Hwan Oh, Yun Kyu Oh
J Korean Med Sci. 2023 Sep 25; 38(38): e296. Published online 2023 Aug 29. doi: 10.3346/jkms.2023.38.e296
PMCID:
PMC10519778
AbstractArticlePDF–2.0M
18.
Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum
Melissa M. Boerrigter, René H. M. te Morsche, Hanka Venselaar, Nikki Pastoors, Anja M. Geerts, Anne Hoorens, Joost P. H. Drenth
Genes (Basel) 2023 Aug; 14(8): 1652. Published online 2023 Aug 19. doi: 10.3390/genes14081652
PMCID:
PMC10454741
AbstractArticlePDF–2.3M
19.
In vitro delivery of mTOR inhibitors by kidney-targeted micelles for autosomal dominant polycystic kidney disease
Alysia Cox, Madelynn Tung, Hui Li, Kenneth R. Hallows, Eun Ji Chung
SLAS Technol. Author manuscript; available in PMC 2023 Sep 28.
Published in final edited form as: SLAS Technol. 2023 Aug; 28(4): 223–229. Published online 2023 Feb 19. doi: 10.1016/j.slast.2023.02.001
PMCID:
PMC10439257
AbstractArticlePDF–976K
20.
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
AbstractArticlePDF–1.2M

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