Results 101 to 110 of about 3,318 (192)

Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa [PDF]

The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world, attributed to the high prevalence of consanguinity.
Elgebaly, A., Elgebaly, A., Salman, M. A., Salman, M. A., Soliman, N. A., Soliman, N. A.   +5 more
core   +1 more source

Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review

Clinical Genetics, Volume 106, Issue 6, Page 667-678, December 2024.
Anomalies of the kidney and heart are the most commonly recognized congenital defects and constitute a major cause of morbidity in children. For example, STRING protein‐protein interaction network for the hepatocyte nuclear factor 1‐beta (HNF1B) gene with first‐tier functional interactions involving detection of glucose and exocrine pancreas ...
Amin J. Barakat, Merlin G. Butler
wiley   +1 more source

Evidence for a “Pathogenic Triumvirate” in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease [PDF]

, 2016
A grant from the One-University Open Access Fund at the University of Kansas was used to defray the author's publication fees in this Open Access journal.
Apte, Udayan, Fang, Pingping, Jiang, Lu, Pritchard, Michele T., Weemhoff, James Lawrence   +4 more
core   +3 more sources

Polycystic Kidney Disease: An Examination and Review of Disease Type, Presentation, Treatment, and Prognosis [PDF]

, 2021
Polycystic Kidney Disease (PKD) is a ciliopathy that primarily presents as renal cysts. Inherited as either a dominant (ADPKD) or recessive (ARPKD) mutation, PKD is one of the most commonly inherited kidney diseases. ADPKD is caused by the inheritance of
Mann, Zoey
core   +1 more source

Identification of a Novel ECM Remodeling Macrophage Subset in AKI to CKD Transition by Integrative Spatial and Single‐Cell Analysis

Advanced Science, Volume 11, Issue 38, October 16, 2024.
This study sheds new light on the heterogeneous roles of macrophages in the complex and cumbersome pathological process of AKI to CKD. Integrating high‐throughput spatial and single‐cell transcriptomic data, the study identifies distinct macrophage lineages, with renal resident macrophages promoting repair and monocyte‐derived ECM remodeling ...
Yi‐Lin Zhang, Tao‐Tao Tang, Bin Wang, Yi Wen, Ye Feng, Qing Yin, Wei Jiang, Yue Zhang, Zuo‐Lin Li, Min Wu, Qiu‐Li Wu, Jing Song, Steven D. Crowley, Hui‐Yao Lan, Lin‐Li Lv, Bi‐Cheng Liu   +15 more
wiley   +1 more source

The role of next generation sequencing in the differential diagnosis of caroli’s syndrome

Balkan Journal of Medical Genetics, 2018
We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis.
Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B   +4 more
doaj   +1 more source

Glomerulocystic kidney disease [PDF]

, 2010
Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype.
A Astrinidis, A Ferrus, A Gherman, A Roos, B Ivemark, BJ Siroky, BJ Siroky, BK Yoder, Brian J. Siroky, C Bergmann, C Bingham, C Haumaitre, CJ Ward, CK Sharp, D Bialestock, DA Mans, E Arhan, E Benetti, E Kleymenova, E Potter, EL Edghill, F Emma, F Hildebrandt, GR Dressler, H Montemarano, HF Krous, Hong Yin, HS Kang, I Ariel, IR Veland, IS Lantinga-van Leeuwen, J Bernstein, J Bernstein, J Bernstein, J Bernstein, JB Taxy, JC Harkin, John J. Bissler, JP Calvet, JR Sampson, K Gupta, K Inglis, K Piontek, K Tory, L Flaherty, L Gresh, L Pritchard, L Romio, L Wang, LF Onuchic, LM Dibella, LO Langer Jr, M Gullerova, MT Wolf, PL Beales, PM Marden, PT Brook-Carter, R Attar, R Khaddour, RI Kelley, RK Sibley, SA Feather, SJ Ansley, T Baxter, T Hiesberger, T Watnick, T Weimbs, T Weimbs, V Patel, W Lu, Z Hossain   +70 more
core   +2 more sources

Gastric cancer detection based on cell‐free DNA in blood: A systematic review and meta‐analysis

Clinical and Translational Discovery, Volume 4, Issue 4, August 2024.
Abstract Objective Screening and early diagnosis of gastric cancer (GC) are crucial for improved prognosis. However, gastroscopic screening is not feasible in large populations due to its high cost and invasive nature. The detection of circulating cell‐free DNA (cfDNA) provides an attractive minimally‐invasive alternative for screening of GC.
Mona Wang, Xiaohan Fan, Boyang Huang, Kaifeng Pan, Markus Gerhard, Raquel Mejías‐Luque, Yang Zhang   +6 more
wiley   +1 more source

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

PLoS ONE, 2020
Cystic kidney diseases are a very heterogeneous group of chronic kidney diseases. The diagnosis is usually based on clinical and ultrasound characteristics and the final diagnosis is often difficult to be made.
Lena Obeidova, Tomas Seeman, Filip Fencl, Kveta Blahova, Jan Hojny, Veronika Elisakova, Jana Reiterova, Jitka Stekrova   +7 more
doaj   +1 more source

New rat model that phenotypically resembles autosomal recessive polycystic kidney disease [PDF]

, 2000
Numerous murine models of polycystic kidney disease (PKD) have been described. While mouse models are particularly well suited for investigating the molecular pathogenesis of PKD, rats are well established as an experimental
Dokkum, R.P.E. (Richard) van, Goedbloed, M.A. (Miriam), Guay-Woodford, L.M., Herck, H.V., Hesselink, D.A. (Dennis), Nauta, J. (Jeroen), Visser, P. (Pim), Willemsen, R. (Rob), Wright, C.J.   +8 more
core   +1 more source