Results 61 to 70 of about 4,241 (146)

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants

Disease Models & Mechanisms, 2022
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant   +15 more
doaj   +1 more source

Contextualizing guidelines for the health system of Cyprus: Experiences and lessons learnt

Clinical and Public Health Guidelines, Volume 2, Issue 2, April 2025.
Abstract Background Cyprus is undergoing a major health reform with the recent establishment of the General Healthcare System (GHS). The GHS offers equal healthcare access through one primary insurer (Health Insurance Organization [HIO]) and benefits from a wide collaborative network of public and private healthcare providers.
Panayiotis Kouis, Hugh McGuire, Monika Kyriacou, Anneza Yiallourou, Anastasis Sioftanos, Ourania Kolokotroni, Haris Achilleos, Craig Grime, Pilar Pinilla‐Dominguez, Giorgos Giallouros, Christina Englezou, Contextualization group, George Athanasiou, Elias Avraam, Mary Avraamidou, Anastasios Bagourdis, Charis Charilaou, Stelios Christodoulou, Natasa Christofides, Theodoros Christophides, Vasilis Constantinidis, Dimitris Dimitriou, Stella Eleftheriadou, Christina Flourou, Savvas Frangos, Kyriakos Frantzeskou, Costas Hoplaros, Kyriakos Ioannou, Nikolaos Kadoglou, Chara Kalogirou, Vasileios Karathanos, Andreas Kostis, Andreas Kousios, Ekaterini Lambrinou, Emily Mavrokordatou, Michael Michael, Nicos Mitsides, Chrystalleni Mylonas, Georgia Orphanou, Elias Papasavvas, Doros Polydorou, Stavros Stavrou, Elena Theofanous, Despo Theodorou, Giannis Thrasyvoulou, Chryssa Tziakouri‐Shakalli, Theodora Vassiliou, Alexis Vrachimis, Panayiotis K. Yiallouros, Georgios K. Nikolopoulos   +49 more
wiley   +1 more source

Modeling congenital kidney diseases in Xenopus laevis

Disease Models & Mechanisms, 2019
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in ∼1/500 live births and are a leading cause of pediatric kidney failure. With an average wait time of 3-5 years for a kidney transplant, the need is high for the development of new ...
Alexandria T. M. Blackburn, Rachel K. Miller   +1 more
doaj   +1 more source

Embryonic and foetal expression patterns of the ciliopathy gene CEP164.

PLoS ONE, 2020
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other clinical ...
L A Devlin, S A Ramsbottom, L M Overman, S N Lisgo, G Clowry, E Molinari, L Powell, C G Miles, J A Sayer   +8 more
doaj   +1 more source

Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice

Clinical and Translational Medicine
Introduction Nephronophthisis (NPH) is an autosomal recessive interstitial cystic kidney disease, which is the most common genetic cause of end‐stage renal disease (ESRD) in childhood.
Yichen Yang, Zhihe Xue, Jiayong Lai, Jinglan Zhang, Changmiao Pang, Jinglin Zhong, Zhanpeng Kuang, Baojuan Zou, Yaqing Liu, Liangzhong Sun   +9 more
doaj   +1 more source

Nephronophthisis (medullary cystic disease). [PDF]

, 1971
R.N. Srivastava, Ghai Op, Rakesh K. Chandra   +2 more
openalex   +1 more source

A Bedouin Kindred with Infantile Nephronophthisis Demonstrates Linkage to Chromosome 9 by Homozygosity Mapping [PDF]

, 1998
Neena B. Haider, Rivka Carmi, Hana Shalev, Val C. Sheffield, Daniel Landau   +4 more
openalex   +1 more source

Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches

PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco, Matthias Ley, Kinga Kęska‐Izworska, Dorota Wojenska, Enrico Bono, Samuel M. Walter, Lucas Fillinger, Klaus Kratochwill   +7 more
wiley   +1 more source

Nephrocystin-3gene mutation causes1case of infant nephronophthisis and literature review

Linchuang shenzangbing zazhi, 2020
病例资料患者,女,1岁9个月。因"皮肤瘙痒3个月,发现血肌酐升高1个月"于2019年4月9日入住我科。患儿于入院前3个月无明显诱因出现全身皮肤瘙痒,无发热、咳涕,无吐泻,无皮疹、关节疼痛,无浮肿等不适;至当地医院皮肤科间断治疗2个月,症状无改善。20余天前无明显诱因下出现呕吐、腹泻,呕吐非喷射性,呕吐物无血丝、血块,解稀水便5～6次/d。至当地医院就诊,查腹部超声示双肾实质回声增强 ...
ZHAI Chun-tao, KUANG Xin-yu, SUN Lei, SUN Li-wen, WANG Ping, WU Ying, HUANG Wen-yan   +6 more
doaj  

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination [PDF]

, 2003
Edgar A. Otto, Bernhard Schermer, Tomoko Obara, John F. O’Toole, Karl S. Hiller, Adelheid M. Mueller, Rainer Ruf, Julia Hoefele, Frank Beekmann, Daniel Landau, John W. Foreman, Judith A. Goodship, Tom Strachan, Andreas Kispert, Matthias T. F. Wolf, M. F. Gagnadoux, Hubert Nivet, Corinne Antignac, Gerd Walz, Iain A. Drummond, Thomas Benzing, Friedhelm Hildebrandt   +21 more
openalex   +1 more source