Results 61 to 70 of about 3,874 (165)

Joubert syndrome with nephronophthisis in neurofibromatosis type 1

Saudi Journal of Kidney Diseases and Transplantation, 2011
Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation.
Javed Ahmed, Uma S Ali
doaj  

Evaluation of Kidney Transplantation Outcomes of Pediatric Patients with Ciliopathy: A Single Center Experience

Journal of Pediatric Research
Aim: Ciliopathies are rare genetic diseases referring to a group of syndromic diseases characterized by the deterioration of the structure of the cilia, which may cause kidney failure in childhood.
Sevgin Taner, Nur Beril Özden, Banu Sarsık Kumbaracı, Sait Şen, Gülizar Koç, Taylan Özgür Sezer, Seçil Conkar Tunçay, Su Özgür, Ahmet Keskinoğlu, İpek Kaplan Bulut   +9 more
doaj   +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

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. [PDF]

Archives of Disease in Childhood, 1977
W, Proesmans, B, van Damme
openaire   +4 more sources

SOX9-dependent fibrosis drives renal function in nephronophthisis

EMBO Molecular Medicine
Fibrosis is a key feature of a broad spectrum of cystic kidney diseases, especially autosomal recessive kidney disorders such as nephronophthisis (NPHP).
Maulin Mukeshchandra Patel, Vasileios Gerakopoulos, Bryan Lettenmaier, Eleni Petsouki, Kurt A Zimmerman, John A Sayer, Leonidas Tsiokas   +6 more
doaj   +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  

Poster Session 4

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report

Heliyon
The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and ...
Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi Luo   +7 more
doaj   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source