Rannar Airik
Rannar Airik
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ...
Nature genetics 38 (12), 1397-1405, 2006
5722006
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
SF Heeringa, G Chernin, M Chaki, W Zhou, AJ Sloan, Z Ji, LX Xie, ...
The Journal of clinical investigation 121 (5), 2013-2024, 2011
3412011
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ...
Nature genetics 42 (10), 840-850, 2010
3272010
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ...
Cell 150 (3), 533-548, 2012
3162012
Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3
C Wiese, T Grieskamp, R Airik, MTM Mommersteeg, A Gardiwal, ...
Circulation research 104 (3), 388-397, 2009
2722009
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ...
The Journal of clinical investigation 123 (12), 5179-5189, 2013
2652013
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
W Zhou, EA Otto, A Cluckey, R Airik, TW Hurd, M Chaki, K Diaz, FP Lach, ...
Nature genetics 44 (8), 910-915, 2012
1972012
Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia
C Austin-Tse, J Halbritter, MA Zariwala, RM Gilberti, HY Gee, N Hellman, ...
The American Journal of Human Genetics 93 (4), 672-686, 2013
1652013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
MA Zariwala, HY Gee, M Kurkowiak, DA Al-Mutairi, MW Leigh, TW Hurd, ...
The American Journal of Human Genetics 93 (2), 336-345, 2013
1642013
The Tbx2+ Primary Myocardium of the Atrioventricular Canal Forms the Atrioventricular Node and the Base of the Left Ventricle
WTJ Aanhaanen, JF Brons, JN Domínguez, MS Rana, J Norden, R Airik, ...
Circulation research 104 (11), 1267-1274, 2009
1642009
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ...
The American Journal of Human Genetics 93 (5), 915-925, 2013
1612013
Tbx18 regulates the development of the ureteral mesenchyme
R Airik, M Bussen, MK Singh, M Petry, A Kispert
The Journal of clinical investigation 116 (3), 663-674, 2006
1372006
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
EA Otto, G Ramaswami, S Janssen, M Chaki, SJ Allen, W Zhou, R Airik, ...
Journal of medical genetics 48 (2), 105-116, 2011
1362011
The prepattern transcription factor Irx3 directs nephron segment identity
L Reggiani, D Raciti, R Airik, A Kispert, AW Brändli
Genes & development 21 (18), 2358-2370, 2007
1022007
Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
S Janssen, G Ramaswami, EE Davis, T Hurd, R Airik, JM Kasanuki, ...
Human genetics 129 (1), 79-90, 2011
902011
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
P Saisawat, V Tasic, V Vega-Warner, EO Kehinde, B Günther, R Airik, ...
Kidney international 81 (2), 196-200, 2012
842012
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling
M Schueler, DA Braun, G Chandrasekar, HY Gee, TD Klasson, J Halbritter, ...
The American Journal of Human Genetics 96 (1), 81-92, 2015
752015
FAT1 mutations cause a glomerulotubular nephropathy
HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, ...
Nature communications 7 (1), 1-11, 2016
672016
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
HY Gee, EA Otto, TW Hurd, S Ashraf, M Chaki, A Cluckey, V Vega-Warner, ...
Kidney international 85 (4), 880-887, 2014
652014
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency
M Doimo, E Trevisson, R Airik, M Bergdoll, C Santos-Ocaña, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (1), 1-6, 2014
632014
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Artículos 1–20