Results 131 to 140 of about 4,587 (195)

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

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

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

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

Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion. [PDF]

Kidney Int Rep
Barichello RS, Hung JY, Mallett AJ, Schmitz U.   +3 more
europepmc   +1 more source

WCN25-1253 SMALL MOLECULE DRUG TREATMENTS FOR INHERITED KIDNEY DISEASE: NEPHRONOPHTHISIS

Kidney International Reports
Praveen Dhondurao Sudhindar, Elisa molinari, Colin Johnson, Colin Miles, John Sayer   +4 more
doaj   +1 more source

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.

Nephron
Claus LR, Snoek R, Faber S, Roskothen-Shevchuk AJC, Sendino Garví E, Peters EDJ, Savelberg SMC, Duran K, van der Zwaag B, Nguyen TQ, Broekhuizen R, Brummelhuis WJ, Rookmaaker M, van der Veen SW, Elferink MG, Karras A, Raymond L, Mousseaux C, Sadeghi-Alavijeh O, Sayer JA, Olinger E, Neatu R, Klämbt V, Stokman MF, Knoers NVAM, Tessadori F, Gale DP, Boldt K, Ueffing M, Slaats GG, Roepman R, Hildebrandt F, Mesnard L, van Haaften G, van Eerde AM.   +34 more
europepmc   +1 more source

Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms. [PDF]

Med Genet
Halbritter J, Simons M.
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

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. [PDF]

Hum Genomics
Alafghani R, Aljeaid D, Shaik NA, Banaganapalli B, Elango R, Khard G, Habab W, Jadkarim G, Alshaer DS, Almutadares M, Alrayes NM, Issa NM.   +11 more
europepmc   +1 more source