Jeffery C Murray
University of Iowa
Publications 2
#1Nandita Mukhopadhyay (University of Pittsburgh)H-Index: 7
#2Madison Bishop (Emory University)
Last.Mary L. Marazita (University of Pittsburgh)H-Index: 55
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Orofacial clefts (OFCs) are one of the most common birth defects worldwide and create a significant health burden. The majority of OFCs are non-syndromic, and the genetic component has been only partially determined. Here, we analyze whole genome sequence (WGS) data for association with risk of OFCs in European and Colombian families selected from a multicenter family-based OFC study. Part of the Gabriella Miller Kids First Pediatric Research Program, this is the first large-scale WGS study of O...
#1Koh-ichiro Yoshiura (Nagasaki University)H-Index: 38
#2Akira Kinoshita (Nagasaki University)H-Index: 20
Last.Norio Niikawa (Nagasaki University)H-Index: 63
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Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Here we show that a SNP, 538G → A (rs17822931), in the ABCC11 gene is responsible for determination of earwax type. The AA genotype corresponds to dry earwax, and GA and GG to wet type. A 27-bp deletion in ABCC11 exon 29 was also found in a few individuals of Asian ancestry. A functional assay demonstrated that cells with allele A show a lower excretory activity f...
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