Results 81 to 90 of about 5,140 (191)

Follow-Up of Patients With Juvenile Nephronophthisis After Renal Transplantation: A Single Center Experience

, 2011
Background. Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease (ESRD) in the first 3 decades of life. Treatment of patients with NPHP is symptomatic; kidney transplantation is the treatment of choice when ESRD is ...
F. Ozaltin, TOPALOĞLU, REZAN, BİLGİNER, YELDA, M. Bakkaloglu, ÖZALTIN, FATİH, AKI, FAZIL TUNCAY, A.C. Tayfur, Bakkaloglu, M., ÖZEN, SEZA, A. Duzova, S. Ozen, A. Bakkaloglu, R. Topaloglu, N. Besbas, Y. Bilginer, Bakkaloglu, A., F.T. Aki, DÜZOVA, ALİ, Besbas, N., Tayfur, A. C.   +19 more
core   +1 more source

A case of nephronophthisis discovered due to pregnancy with review of literatures [PDF]

, 2017
A 20-year-old woman presented to the Department of Obstetrics and Gynecology of our hospital for a prenatal checkup at 33 weeks’ gestation. No abnormalities had been ever found in routine urine testing at school health checkups.
Mori, Atsushi, Nishino, Tomoya, Mukae, Hiroshi, Nakazawa, Masayuki, Oka, Satoru, Obata, Yoko, Morisada, Naoya, Iijima, Kazumoto   +7 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

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

, 2009
Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified.
Nuernberg, P., Wolf, M. T. F., Paruchuri, Y., Becker, C., Tory, K., Antignac, C., Attanasio, M., Nuernberg, G., Hildebrandt, F., Utsch, B., Nayir, A., Wise, E. L., Saunier, S., Chaki, M., Otto, E. A., Zhou, W., B Utsch, C Antignac, M Attanasio, E L Wise, S Saunier, F Hildebrandt, G Nurnberg, A Nayir, M T F Wolf, C Becker, K Tory, P Nurnberg, E A Otto, Y Paruchuri, M Chaki, W Zhou   +31 more
core   +1 more source

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3

, 2009
Nephronophthisis is a group of genetically heterogeneous autosomal recessive cystic kidney disorders with a wide spectrum of severity and age of onset.
Cross, Leroy, Simpson, Michael A, Crosby, Andrew H, Cross, Harold E, Helmuth, Mervin   +4 more
core   +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  

A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway

, 2010
Mutations in the INVS gene coding for inversin have been identified in patients with nephronophthisis type 2 (NPHP2), typically causing infantile onset of ESRD and potentially associated with situs inversus.
Bellavia, Salvatore, Sara Terryn, Karin Dahan, Olivier Devuyst, Yves Pirson, Cosyns, Jean-Pierre, Devuyst, Olivier, Terryn, Sara, Salvatore Bellavia, Jean-Pierre Cosyns, Dahan, Karin, Pirson, Yves   +11 more
core   +1 more source

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

[Nephronophthisis]. [PDF]

Minerva nefrologica, 1977
F, Perfumo, L, Formicucci, M, Sarperi, R, Gusmano   +3 more
openaire   +4 more sources

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