Khadangi, Fatemeh Torkamanzehi, Adam Kerachian, Mohammad Amin
Published in
BMC Nephrology
BackgroundAutosomal dominant polycystic kidney disease (ADPKD), the predominant type of inherited kidney disorder, occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging. However, molecular genetic analysis is required to confirm the diagnosis. It is critical to perform a molecular genetic analysis when the ...
Magayr, Tajdida A Song, Xuewen Streets, Andrew J Vergoz, Laura Chang, Lijun Valluru, Manoj K Yap, Hsiu L Lannoy, Morgane Haghighi, Amirreza Simms, Roslyn J
...
Published in
Kidney international
MicroRNAs (miRNAs) play an important role in regulating gene expression in health and disease but their role in modifying disease expression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) remains uncertain. Here, we profiled human urinary exosome miRNA by global small RNA-sequencing in an initial discovery cohort of seven patients with ADP...
Zhang, Lu Li, Linda Xiaoyan Zhou, Julie Xia Harris, Peter C. Calvet, James P. Li, Xiaogang
Published in
Theranostics
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations of the PKD1 and PKD2 genes. Dysregulation of the expression of PKD genes, the abnormal activation of PKD associated signaling pathways, and the expression and maturation of miRNAs regulates cyst progression. However, the upstream factors regulating these abnorma...
Mantovani, Vilma Bin, Sofia Graziano, Claudio Capelli, Irene Minardi, Raffaella Aiello, Valeria Ambrosini, Enrico Cristalli, Carlotta Pia Mattiaccio, Alessandro Pariali, Milena
...
Published in
Frontiers in Genetics
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in either PKD1 or PKD2 . Genetic testing is increasingly required for diagnosis, prognosis, and treatment decision, but it is challenging due to segmental duplications of PKD1 , gene...
Adamiok-Ostrowska, Anna Piekiełko-Witkowska, Agnieszka
Published in
Cells
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal transduction. The impaired functioning of primary cilia leads to formation of cysts which in turn contri...
Kenter, Annegien T Rentmeester, Eveline van Riet, Job Boers, Ruben Boers, Joachim Ghazvini, Mehrnaz Xavier, Vanessa J van Leenders, Geert J L H Verhagen, Paul C M S van Til, Marjan E
...
Published in
Stem cells translational medicine
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, leading to kidney failure in most patients. In approximately 85% of cases, the disease is caused by mutations in PKD1. How dysregulation of PKD1 leads to cyst formation on a molecular level is unknown. Induced pluripotent stem cells (iPSCs) are a power...
Kataoka, Hiroshi Fukuoka, Hinata Makabe, Shiho Yoshida, Rie Teraoka, Atsuko Ushio, Yusuke Akihisa, Taro Manabe, Shun Sato, Masayo Mitobe, Michihiro
...
Published in
Journal of Clinical Medicine
Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations, particularly those with truncating mutations, show poor prognosis. However, the differences in disease progression with different mutation types are unclear. Here, a comparative study was conducted on the renal prognosis of patients with ADPKD who were categorized ba...
Martínez-León, Eduardo Amable, Gastón Jácamo, Rodrigo Picco, María Elisa Anaya, Laura Rozengurt, Enrique Rey, Osvaldo
Published in
Journal of cellular physiology
Protein kinase D1 (PKD1) plays a vital role in signal transduction, cell proliferation, membrane trafficking, and cancer; however, the majority of the studies up to date had centered primarily on PKD1 functions in interphase, very little is known about its role during cell division. We previously demonstrated that during mitosis PKD1 is activated a...
Al-Muhanna, Fahad A. Al-Rubaish, Abdullah M. Vatte, Chittibabu Mohiuddin, Shamim Shaikh Cyrus, Cyril Ahmad, Arafat Shakil Akhtar, Mohammed Albezra, Mohammad Ahmad Alali, Rudaynah A. Almuhanna, Afnan F.
...
Published in
Renal Failure
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation. Of the CRISP patients with a ge...
Al-Hamed, Mohamed H Alsahan, Nada Rice, Sarah J Edwards, Noel Nooreddeen, Eman Alotaibi, Maha Kurdi, Wesam Alnemer, Maha Altaleb, Naderah Ali, Wafa
...
Published in
Pediatric nephrology (Berlin, Germany)
Polycystic kidney disease (PKD) is one of the most common genetic renal diseases and may be inherited in an autosomal dominant or autosomal recessive pattern. Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, GANAB and DNAJB11, cause autosomal dominant PKD (ADPKD). Early onset and severe PKD can occur with PKD1 and PKD2 pa...
