Results 141 to 150 of about 6,344 (210)

Identification of ciliated sensory neuron-expressed genes in using targeted pull-down of poly(A) tails [PDF]

core   +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

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

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

<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

Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families. [PDF]

Eur J Hum Genet
Aleem T, Rashid M, Ahmad N, Asif MF, Tariq M, Malik NA, Poulter JA.   +6 more
europepmc   +1 more source

INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report. [PDF]

Kidney Med
Sawada Y, Sekine A, Oba Y, Yamanouchi M, Suwabe T, Kono K, Kinowaki K, Ohashi K, Yamaguchi Y, Fujimaru T, Mori T, Sohara E, Uchida S, Wada T, Sawa N, Ubara Y.   +15 more
europepmc   +1 more source

Targeted deletion of the DNA damage response regulator Apoptosis Antagonizing Transcription Factor (AATF) in mice decelerates lung tumorigenesis and causes degenerative renal disease [PDF]

, 2018
Jain, Manaswita
core  

A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]

Indian J Nephrol
Shankar M, Anusha V, Shetty A, Sreedhara CG, Vinay KS, Aralapuram K, Reddy GG.   +6 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