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Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q. Wang J, et al. Am J Ophthalmol. 2023 Aug;252:188-204. doi: 10.1016/j.ajo.2023.03.025. Epub 2023 Mar 27. Am J Ophthalmol. 2023. PMID: 36990420
Cone and rod responses were extinguished in 53 of 55 patients (96.4%). Characteristic fundus changes were observed in CEP290- and IQCB1-associated patients. During follow-up, 70 of the 74 patients were referred to nephrology, among whom nephronophthisis was not detected in …
Cone and rod responses were extinguished in 53 of 55 patients (96.4%). Characteristic fundus changes were observed in CEP290- and IQC …
Clock genes rescue nphp mutations in zebrafish.
Kayser N, Zaiser F, Veenstra AC, Wang H, Göcmen B, Eckert P, Franz H, Köttgen A, Walz G, Yakulov TA. Kayser N, et al. Hum Mol Genet. 2022 Dec 16;31(24):4143-4158. doi: 10.1093/hmg/ddac160. Hum Mol Genet. 2022. PMID: 35861640 Free PMC article.
While MO-mediated depletion resulted in glomerular cyst and cloaca malformation, these ciliopathy-typical manifestations were observed at a much lower frequency in zebrafish embryos with defined nphp mutations. All nphp1-4-8 mutant zebrafish were viable and displayed decre …
While MO-mediated depletion resulted in glomerular cyst and cloaca malformation, these ciliopathy-typical manifestations were observed …
Computational gene expression modeling identifies salivary biomarker analysis that predict oral feeding readiness in the newborn.
Maron JL, Hwang JS, Pathak S, Ruthazer R, Russell RL, Alterovitz G. Maron JL, et al. J Pediatr. 2015 Feb;166(2):282-8.e5. doi: 10.1016/j.jpeds.2014.10.065. J Pediatr. 2015. PMID: 25620512 Free PMC article.
OBJECTIVE: To combine mathematical modeling of salivary gene expression microarray data and systems biology annotation with reverse-transcription quantitative polymerase chain reaction amplification to identify (phase I) and validate (phase II) salivary biomarker analysis for the …
OBJECTIVE: To combine mathematical modeling of salivary gene expression microarray data and systems biology annotation with reverse-transcri …
Diverse phenotypic expression of NPHP4 mutations in four siblings.
Bakkaloğlu SA, Kandur Y, Bedir-Demirdağ T, Işık-Gönül İ, Hildebrandt F. Bakkaloğlu SA, et al. Turk J Pediatr. 2014 Jul-Aug;56(4):423-6. Turk J Pediatr. 2014. PMID: 25818963 Free PMC article.
Chronic kidney disease developed in the older two brothers. The observed phenotypic differences are likely to be related to environmental and epigenetic factors, oligogenic inheritance and modifier genes affecting the age of presentation of signs and symptoms. ...
Chronic kidney disease developed in the older two brothers. The observed phenotypic differences are likely to be related to environme …