Results 51 to 60 of about 98,685 (336)

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Acta Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė, Meda Sutkevičiūtė, Birutė Burnytė, Kristina Grigalionienė, Augustina Jankauskienė   +4 more
doaj   +1 more source

Insulin-like growth factor-1 induces hyperproliferation of PKD1 cystic cells via a Ras/Raf dependent signalling pathway [PDF]

, 2007
Autosomal dominant polycystic kidney disease (ADPKD) largely results from mutations in the PKD1 gene leading to hyperproliferation of renal tubular epithelial cells and consequent cyst formation.
Harris, P.C., Newby, L.J., O'Hare, O.J., Ong, A.C.M., Parker, E., Rossetti, S., Sharpe, C.C., Streets, A.J.   +7 more
core   +1 more source

Case report: Atypical polycystic kidney disease

Radiology Case Reports, 2021
Atypical or unilateral polycystic kidney disease is a rare entity that is found incidentally and is characterized on imaging as asymmetric or unilateral distribution of cysts confined to the kidneys. We present a case of an incidental finding of atypical
Christopher Shin, MD, Leonard Berliner, MD   +1 more
doaj  

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 more sources

Ion channel function of polycystin‐2/polycystin‐1 heteromer revealed by structure‐guided mutagenesis

FEBS Letters, EarlyView.
Mutations in polycystin‐1 (PC1) or polycystin‐2 (PC2) cause autosomal‐dominant polycystic kidney disease (ADPKD). We generated a novel gain‐of‐function PC2/PC1 heteromeric ion channel by mutating pore‐blocking residues. Moreover, we demonstrated that PC2 will preferentially assemble with PC1 to form heteromeric complexes when PC1 is co‐expressed ...
Tobias Staudner, Juthamas Khamseekaew, M. Gregor Madej, Linda Geiges, Bardha Azemi, Christine Ziegler, Christoph Korbmacher, Alexandr V. Ilyaskin   +7 more
wiley   +1 more source

Perioperative Management of Hysterectomy in a Patient with Polycystic Kidney Disease [PDF]

Journal of Clinical and Diagnostic Research, 2014
Polycystic disease of the kidney, inherited as an autosomal dominant trait is characterised by progressive expansion of numerous fluidfilled cysts resulting in massive enlargement of the kidneys ultimately resulting in kidney failure. An understanding of
Savitri. K., Ashwini. H.R., Sreedevi. S.
doaj   +1 more source

Genetic linkage study of family members of a patient with adult polycystic kidney disease [PDF]

, 1999
OBJECTIVE. To study the feasibility of making an early diagnosis of adult polycystic kidney disease by using genetic linkage analysis in Hong Kong. DESIGN. Genetic linkage study. SETTING. University teaching hospital, Hong Kong. PARTICIPANTS.
Chan, DTM, Chan, KW, Cheng, IKP, Choo, CK, Yau, CFF   +4 more
core  

Aberrant expression of nuclear prothymosin α contributes to epithelial‐mesenchymal transition in lung cancer

Molecular Oncology, EarlyView.
Nuclear prothymosin α inhibits epithelial‐mesenchymal transition (EMT) in lung cancer by increasing Smad7 acetylation and competing with Smad2 for binding to SNAI1, TWIST1, and ZEB1 promoters. In early‐stage cancer, ProT suppresses TGF‐β‐induced EMT, while its loss in the nucleus in late‐stage cancer leads to enhanced EMT and poor prognosis.
Liyun Chen, Chung‐Teng Wang, Jia‐Ming Chang, Ai‐Li Shiau, Gia‐Shing Shieh, Yau‐Lin Tseng, Yi‐Ting Yen, Tang‐Hsiu Huang, Li‐Hsin Cheng, Yu‐Chih Wu, Chao‐Liang Wu, Bing‐Hua Su, Pensee Wu   +12 more
wiley   +1 more source

An Unusual Cardiac Manifestation in Autosomal Dominant Polycystic Kidney Disease

Case Reports in Nephrology, 2012
Autosomal dominant polycystic kidney disease is a common hereditary disorder characterized by renal and extrarenal, cystic and noncystic manifestations. Connective tissue defects, including cerebral aneurysm, meningeal diverticula, abdominal wall hernias,
Fausta Catapano, Stefano Pancaldi, Carlo Pace Napoleone, Lucia Barbara De Sanctis, Gaetano Gargiulo, Giuseppe Emiliani, Antonio Santoro   +6 more
doaj   +1 more source

Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications

Advanced Science, EarlyView.
HDAC6 regulates primary cilia, crucial for cellular signalling and environmental responses. Dysregulation of HDAC6 contributes to ciliopathies, affecting multiple organs. This review examines HDAC6's role in ciliogenesis, its interaction with signaling molecules, and its potential as a therapeutic target.
Zhiyi Wang, Xiaofan Zhu, Zhenzhou Huang, Kaidi Ren, Jie Ran, Yang Yang   +5 more
wiley   +1 more source