INTRODUCTION This study aimed to investigate the mutation of T-box transcription factor TBX22 exon 5 in children with non-syndromic cleft palate. Four mutations in TBX22 exon 5 in X-linked cleft palate with ankyloglossia (CPX) patients had been identified in the previous studies. The study used the syndromic cleft palate susceptibility gene as a candidate gene for more common non-syndromic clef...

The RNA binding protein T-STAR was created following a gene triplication 520-610 million years ago, which also produced its two parologs Sam68 and SLM-1. Here we have created a T-STAR null mouse to identify the endogenous functions of this RNA binding protein. Mice null for T-STAR developed normally and were fertile, surprisingly, given the high expression of T-STAR in the testis and the brain,...

RNA-sequencing was performed on three tenosynovial giant cell tumors (TSGCT) in an attempt to elicit more information on the mechanisms of CSF1 expression in this tumor type. A novel CSF1-S100A10 fusion gene was found in a TSGCT that carried the translocation t(1;1)(q21;p11) as the sole karyotypic abnormality. In this fusion gene, the part of CSF1 coding for the CSF1 protein (exons 1-8 in seque...

Fig. S2. Results of analysis for the PTCH1 mutation identified in the patient. DNA sequencing analysis showing the splice site mutation c.585-1G>A (denoted with arrow) in heterozygosis (A). RT-PCR analysis (B). A cDNA fragment (431 bp) was amplified with the forward primer Ex2cF:5’TAAAAGCAGCGAACCTCGAG-3’ and the reverse Ex6cR:5’-AAGTTTGTCCACCGCAAAGGA-3’ encompassing part of exon 2 (49 bp), exon...

Somatic mutations in cervical intraepithelial neoplasia (CIN) are largely unknown. Here, we profiled 35 cervical carcinomas and 23 CIN grade 2/3 (CIN2/3) for mutations in 48 cancer-related genes using a Next Generation Sequencing-based cancer panel. PIK3CA exon 9 was the most frequently mutated locus in cervical carcinoma and the only mutated locus detected in CIN2/3. These PIK3CA exon 9 mutati...

Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...

Cytochrome P450 (CYP) 2D6 is an important drug-metabolizing enzyme, and its gene is known to be highly polymorphic. Here, we report five novel nonsynonymous single nucleotide polymorphisms (SNPs), and 65 other sequence variations detected from the gene coding for cytochrome P450 (CYP) 2D6 in 254 Japanese subjects. Two of the novel nonsynonymous SNPs were associated with the *10 key SNP, C100T. ...

H EMOPI-IILIA A, the most common congenital bleeding disorder, affects I in 10,000 to 20,000 males. The molecular lesions are heterogeneous and only I 0% of specific defects had been characterized so far. These included ddetions and point mutations.’ 8 Most of the point mutations detected involved the recognition site (TCGA) for the restriction enzyme Taq I and of these, most are associated wit...

Hailey±Hailey disease (HHD) is an autosomal dominant chronic blistering disease, which is histologically characterized by keratinocyte acantholysis and epidermal cleft formation (Burge, 1992). The disease typically presents in middle age as crusted erosions or circinate plaques in sites exposed to friction such as the neck, axillae, groin, and perineum. Recently, the gene ATP2C1 has been identi...