Results 21 to 30 of about 149,259 (318)

Molecular Mechanisms of Isolated Polycystic Liver Diseases

Frontiers in Genetics, 2022
Polycystic liver disease (PLD) is a rare autosomal dominant disorder including two genetically and clinically distinct forms: autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD).
Ziqi Yu, Xiang Shen, Chong Hu, Jun Zeng, Aiyao Wang, Jianyong Chen   +5 more
doaj   +1 more source

Autosomal dominant polycystic kidney disease [PDF]

Canadian Medical Association Journal, 2017
Mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease, which proceeds to kidney failure in 70% of patients between the fourth and seventh decade of life.[1][1] Signs of autosomal dominant polycystic kidney disease (i.e., numerous cysts and enlargement of the kidneys) may ...
Matthew B. Lanktree, Arlene B Chapman
openaire   +3 more sources

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Medical Association (JAMA), 2022
Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2.
Alexander R. Chang, B. Moore, Jonathan Z. Luo, G. Sartori, Brian Fang, Steven Jacobs, Yoosif Abdalla, Mohammed Taher, D. Carey, W. Triffo, Gurmukteshwar Singh, T. Mirshahi   +11 more
semanticscholar   +1 more source

Autosomal dominant polycystic kidney disease in Colombia

BMC Nephrology, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo, Camilo A González, Lina Herrera, Nancy Yomayusa-González, Milciades Ibañez, Ana M. Valbuena-García, Lizbeth Acuña-Merchán   +6 more
doaj   +1 more source

Management of Pain in Autosomal Dominant Polycystic Kidney Disease and Anatomy of Renal Innervation [PDF]

, 2015
Purpose Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life.
Bacallao, Robert L., Bahler, Clinton D., Shumate, Ashley M., Sundaram, Chandru P., Tellman, Matthew W.   +4 more
core   +1 more source

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]

Brain - A Journal of Neurology , Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663, 2020
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv   +1 more source

Hydronephrosis in autosomal dominant polycystic kidney disease [PDF]

Kidney International, 2009
An 18-year-old patient with autosomal dominant polycystic kidney disease (ADPKD) was enrolled in a clinical study testing a novel drug therapy to retard disease progression. He reported chronic intermittent right-sided flank pain that began 2 years earlier and was attributed to ADPKD at that time.
Kistler, A D, Poster, D, Wüthrich, R P, Serra, A L   +3 more
openaire   +4 more sources

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Journal of Clinical Medicine, 2022
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in
Akinari Sekine, S. Hidaka, T. Moriyama, Yasuto Shikida, Keiji Shimazu, E. Ishikawa, K. Uchiyama, H. Kataoka, Haruna Kawano, Mahiro Kurashige, Mai Sato, Tatsuya Suwabe, S. Nakatani, T. Otsuka, H. Kai, K. Katayama, Shiho Makabe, S. Manabe, W. Shimabukuro, K. Nakanishi, Saori Nishio, Fumihiko Hattanda, K. Hanaoka, K. Miura, H. Hayashi, J. Hoshino, K. Tsuchiya, T. Mochizuki, S. Horie, I. Narita, S. Muto   +30 more
semanticscholar   +1 more source

Multiple cerebral aneurysms in an adult with autosomal recessive polycystic kidney disease [PDF]

, 2021
[Extract] Autosomal recessive polycystic kidney disease(ARPKD) is a rare form offibrocystic kidneydisease that affects approximately 1 in 20,000 live births.
Clouston, John, Gately, Ryan, Hawley, Carmel, Lock, Gregory, Mallett, Andrew, Patel, Chirag   +5 more
core   +1 more source

Defining cellular complexity in human autosomal dominant polycystic kidney disease by multimodal single cell analysis

bioRxiv, 2021
Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end stage renal disease and is characterized by the formation and progressive expansion of kidney cysts. Most ADPKD cases arise from mutations in either the PKD1 or PKD2
Yoshiharu Muto, E. Dixon, Yasuhiro Yoshimura, Haojia Wu, K. Omachi, Andrew King, E. Olson, M. Gunawan, J. Kuo, J. Cox, J. Miner, S. Seliger, O. Woodward, P. Welling, T. Watnick, B. Humphreys   +15 more
semanticscholar   +1 more source