Affiliation: University of California
- Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16Hiroaki Tomita
Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
Lancet 359:2000-2. 2002..15 (theta;=0.00) at the locus D16S3044. Identification of the earwax locus could contribute to further anthropogenetic studies and physiological and pathological understanding of the apocrine-gland development...
- Sample matching by inferred agonal stress in gene expression analyses of the brainJun Z Li
Stanford Human Genome Center, Stanford University, Palo Alto, CA, USA
BMC Genomics 8:336. 2007..This problem is analogous to the one encountered in genetic association studies, where self-reported race and ethnicity are often imprecise proxies for an individual's actual genetic ancestry...
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsionsShinji Ono
Department of Psychiatry, Nagasaki University Hospital, Sakamoto 1 7 1, Nagasaki, Japan
J Hum Genet 57:338-41. 2012..Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism...
- Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC familiesTaeko Kikuchi
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
J Hum Genet 52:334-41. 2007..Thus, one of the two genes, SCNN1G and ITGAL, could be causative for PKC, but we were not able to find any other mutations that explain the PKC phenotype...
- A SNP in the ABCC11 gene is the determinant of human earwax typeKoh ichiro Yoshiura
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Nat Genet 38:324-30. 2006..These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G --> A SNP is the first example of DNA polymorphism determining a visible genetic trait...