Results 181 to 190 of about 8,333 (256)

iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis. [PDF]

Stem Cell Res Ther
Suzuki T, Susa K, Kikuchi H, Nakano Y, Yanagi T, Hara Y, Fujiki T, Ando F, Mandai S, Mori Y, Mori T, Iwasa H, Hata Y, Uchida S, Sohara E.   +14 more
europepmc   +1 more source

Mutational analysis of theNPHP4 gene in 250 patients with nephronophthisis [PDF]

, 2005
Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Anita Imm, Ulla Muerb, Boris Utsch, Massimo Attanasio, John F. O’Toole, Edgar A. Otto, Friedhelm Hildebrandt   +11 more
openalex   +1 more source

Tuberous Sclerosis Complex-Associated Tubulointerstitial Kidney Disease. [PDF]

Kidney Int Rep
Sakhi H, Isnard P, Boudhabhay I, Correas JM, Burtey S, Joly D, Knebelmann B, Servais A.   +7 more
europepmc   +1 more source

Life-Threatening Noninfectious Complications of Peritoneal Dialysis in an Infant with End-Stage Kidney Disease. [PDF]

Pediatr Rep
Teng CT, Tang YH, Wang HH, Lee YS, Liu CS, Tsao PC, Guo MC, Chen HL, Lin CH.   +8 more
europepmc   +1 more source

Editorial: Studying rare diseases using induced pluripotent stem cell (iPSC)-based model systems. [PDF]

Front Cell Dev Biol
Francis KR, Chen G, Kiris E.
europepmc   +1 more source

Cilia - the prodigal organelle [PDF]

, 2012
Peter K Jackson, Phil Beales
core   +1 more source

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort. [PDF]

Kidney Int Rep
Lemberg K, Shalaby MA, Zion E, Saida K, Yousef K, Schneider R, Mertens ND, Mansour B, Kolvenbach CM, Merz LM, Riedhammer KM, Braun A, Hölzel S, Yu S, Lomjansook K, Kalkar G, Marchuk D, Elmubarak I, Franken GAC, Shril S, El Desoky S, Kari JA, Buerger F, Hildebrandt F.   +23 more
europepmc   +1 more source

腎機能が正常で発見された Nephronophthisis-Medullary cystic kidney disease Complex の1例

, 2007
琢人 永井, 芳光 後藤
openalex   +1 more source

Juvenile nephronophthisis type Ⅰ：a case report and literature review

Linchuang shenzangbing zazhi
Qian Chan, Mao Zhi-yan, Li Shu-fen, Wang Fei-yan   +3 more
doaj   +3 more sources

<i>TTC21B</i> variants disrupt the left-right asymmetry and pronephric development in zebrafish. [PDF]

Genes Dis
Deng L, Yang Y, Yin X, Yang J, Duan Y, Wang K, Duan W, Zhang Y, Xiong B, Zhou J.   +9 more
europepmc   +1 more source