Results 81 to 90 of about 30,345 (207)

Altered functional interactions between CFTR disease mutants ΔF508 and G551D and the protein kinase A catalytic subunit

The Journal of Physiology, Volume 604, Issue 8, Page 3344-3362, 15 April 2026.
Abstract figure legend Pathogenic mutations ΔF508 and G551D of the cystic fibrosis transmembrane conductance regulator (CFTR) channel alter its interactions with protein kinase A (PKA). Top left, for both mutants, but not for wild‐type (WT) CFTR, non‐catalytic stimulation of channel activity by PKA is larger in the presence of N6‐(2‐phenylethyl)‐ATP (P‐
Olivér Závoti, Márton A. Simon, László Csanády   +2 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion

Oman Medical Journal, 2018
The autosomal dominant polycystic kidney disease (ADPKD) accounts for one out of 400–1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvement. The pericardial effusion (PE) in the context of
Guillermo Alberto Perez Fernandez, Montaser Y. Ismail   +1 more
doaj   +1 more source

New mutations in the gene in Czech population with autosomal dominant polycystic kidney disease [PDF]

, 2009
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1 (affecting roughly 85% of ADPKD patients) and PKD2 (affecting roughly 14% of ADPKD patients) genes,
Merta Miroslav, Lnenicka Petr, Kebrdlova Vera, Svobodova Stanislava, Reiterova Jana, Stekrova Jitka, Viklicky Ondrej, Kohoutova Milada   +7 more
core   +2 more sources

KIFC1 is Associated With Sarcomatoid Differentiation, Immune Response, and a Poor Prognosis in Clear Cell Renal Cell Carcinoma

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Introduction Centrosome clustering is a cancer‐specific adaptation that allows cells with centrosome amplification to evade mitotic catastrophe and has emerged as a potential therapeutic target. We analyzed the prognostic role of several molecules related to centrosome clustering and found that Kinesin Family Member C1 (KIFC1) was strongly ...
Yoshinori Nakano, Yohei Sekino, Go Kobayashi, Hikaru Nakahara, Shintaro Akabane, Kenshiro Takemoto, Miki Naito, Shunsuke Miyamoto, Kohei Kobatake, Hiroyuki Kitano, Keisuke Goto, Akihiro Goriki, Keisuke Hieda, Takao Hinoi, Nobuyuki Hinata   +14 more
wiley   +1 more source

Autopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease

Case Reports in Urology, 2014
The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal ...
Anup Hazra, Richard Siderits, Cheryl Rimmer, Noah Rolleri   +3 more
doaj   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

Intracranial aneurysms in autosomal dominant polycystic kidney disease [PDF]

Kosin Medical Journal
Background The incidence of intracranial aneurysms (ICA) is high in patients with autosomal dominant polycystic kidney disease (ADPKD). However, little is known regarding the optimal screening and treatment methods for ICA.
Jung Hyun Park
doaj   +1 more source

Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD [PDF]

, 2016
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-
Bacallao, Robert L., Boedigheimer, Michael, Clendenon, Sherry G., Damore, Michael, de Almeida, Rita M. C., Glazier, James A., Harris, Peter C., Herbert, Britney-Shea, Richards, William G., Rossetti, Sandro, Wandinger-Ness, Angela, Ward, Heather H., Xu, Wei Min   +12 more
core   +2 more sources

Autosomal dominant polycystic kidney disease: updated perspectives

Therapeutics and Clinical Risk Management, 2019
Anjay Rastogi,1 Khalid Mohammed Ameen,1 Maha Al-Baghdadi,1 Kelly Shaffer,1 Niloofar Nobakht,1 Mohammad Kamgar,1 Edgar V Lerma21Department of Medicine, Division of Nephrology, David Geffen School of Medicine, Los Angeles, CA, USA; 2Department of Medicine,
Rastogi A, Ameen KM, Al-Baghdadi M, Shaffer K, Nobakht N, Kamgar M, Lerma EV   +6 more
doaj  

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