Publications by authors named "Y H Wu-Chou"
Oral squamous cell carcinoma (OSCC) is the most common malignancy of the oral cavity with poor prognosis. The dysregulation of Notch signaling pathway has been implicated in the OSCC tumorigenesis. However, the clinical implication of NOTCH1 mutation status in OSCC remains unelucidated.
View Article and Find Full Text PDFObjective: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia.
Methods: Methods consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonance imaging, and protein expression studies in skin fibroblasts from patients.
Results: We identified a heterozygous variant, c.
Article Synopsis
- Researchers studied de novo mutations (DNMs) to see how they affect the risk of orofacial clefts (OFCs), a common birth defect, using whole-genome sequencing on 756 child-parent trios from different ancestries.
- They found a higher occurrence of loss-of-function DNMs in genes that are highly expressed in craniofacial tissues and in genes linked to known genetic syndromes associated with OFCs.
- The study also highlighted the involvement of specific gene families, including zinc-finger homeobox domain and SOX2-interacting genes, in the development of OFCs.
Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts.
Design: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test.
Background: Approximately one-third of cases of dilated cardiomyopathy (DCM) are caused by genetic mutations. With new sequencing technologies, numerous variants have been associated with this inherited cardiomyopathy, however the prevalence and genotype-phenotype correlations in different ethnic cohorts remain unclear. This study aimed to investigate the variants in Chinese DCM patients and correlate them with clinical presentations and prognosis.
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