Results 121 to 130 of about 8,333 (256)

Calcitriol suppression of parathyroid hormone fails to improve skeletal properties in an animal model of chronic kidney disease [PDF]

, 2016
BACKGROUND: Chronic kidney disease (CKD) leads to complex metabolic changes and an increased risk of fracture. Currently, calcitriol is the standard of care as it effectively suppresses parathyroid hormone (PTH) levels in CKD patients.
Allen, Matthew R., Brown, Drew M., Chen, Neal X., Hammond, Max A., Moe, Sharon M., Newman, Christopher L., Tian, Nannan, Wallace, Joseph M.   +7 more
core   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

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

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

Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease [PDF]

, 2016
The neurohypophysial hormone arginine vasopressin (AVP) acts by three distinct receptor subtypes: V1a, V1b, and V2. In the liver, AVP is involved in ureogenesis, glycogenolysis, neoglucogenesis and regeneration. No data exist about the presence of AVP in
Alpini, Gianfranco, Carpino, Guido, Franchitto, Antonio, Gaudio, Eugenio, Glaser, Shannon, Mancinelli, Romina, Olivero, Francesca, Onori, Paolo, Pannarale, Luigi, Sferra, Roberta, Venter, Julie, Vetuschi, Antonella   +11 more
core   +1 more source

Author response: Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse

, 2023
Yuanyuan Li, Wenyan Xu, Svetlana Makova, Martina Brueckner, Zhaoxia Sun   +4 more
openalex   +1 more source

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis [PDF]

, 2014
Ann Marie Hynes, Rachel H. Giles, Shalabh Srivastava, Lorraine Eley, Jennifer L. Whitehead, Marina Danilenko, Shreya Raman, Gisela G. Slaats, John G. Colville, Henry Ajzenberg, Hester Y. Kroes, Peter E. Thelwall, Nicholas L. Simmons, Colin G. Miles, John A. Sayer   +14 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  

Adult familial nephronophthisis-spastic quadriparesia syndrome [PDF]

, 2020
INSERM
openalex   +1 more source