This study identified a SLC17A9 missense variant c.932G>A in a DSAP family by exome sequencing. The c.25C>T variant in additional family supported an important role of SLC17A9 in DSAP. SLC17A9 encoded a vesicular nucleotide transporter (VNUT), which contributed to ATP vesicle formation and ATP release regulation. The two identified variants located in major facilitator superfamily […]
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The 2014 International Conference on Intelligent Biology and Medicine
The 2014 International Conference on Intelligent Biology and Medicine (ICIBM 2014) will be held on December 4-6, 2014 in San Antonio, TX, USA. Submissions are invited with unpublished original work describing recent advances on all aspects of Bioinformatics, Systems Biology and Intelligent Computing, including, but not restricted to the following topics: Bioinformatics: •Genomics And […]
Genotype phenotype associations across the voltage-gated sodium channel family
Mutations in genes which code for sodium ion channel proteins have emerged as the most important genetic factors associated with epilepsy, cardiac rhythm disorders, skeletal muscle channelopathies and pain disorders. Geneticists in partnership with neurologists and cardiologists are often asked to comment on the clinical significance of specific mutations. Comparing over 1300 sodium ion channel […]
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy
Our study investigated the relationship between rare gene variants, clinical features and natural history in arrhythmogenic right ventricular cardiomyopathy. In particular, we explored the phenotype and outcome of rare variant carriers of the giant gene titin and desmosomal genes in a cohort of families with a long-term follow-up, up to 22 years. We found that desmosomal gene rare […]
The clinical significance of small copy number variants in neurodevelopmental disorders
The majority of neuro-developmental disorders (NDDs) such as intellectual disability are likely due to alterations in the genome. It has been shown that about 30% of these patients have losses or gains of large segments of the genome containing many genes or whole chromosomes as in trisomy 21. In this study, we evaluated the contribution […]
Comprehensive genotype phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation
Hydatidiform mole (HM) is a human pregnancy with no embryo, but excessive trophoblastic proliferation. Maternal recessive mutationsin NLRP7 are responsible for recurrent HMs, which are characterized by diploid biparental genomes, abnormal DNA methylation, and absence of p57Kip2 expression, the protein coded by the imprinted CDKN1C gene. In this study, we demonstrate a strong correlation between […]
Genetic architectures of ADME genes in five Eurasian admixed populations and implications for drug safety and efficacy
The genetic heterogeneity can lead to heterogeneous drug responses among individuals, such as less efficacy or unwanted side effects of drug therapy. Moreover, the ethnic/genetic diversity also affects the effective prescription. Here, we investigated the genetic diversity of 282 ADME genes in five northwestern Chinese minority populations which are all admixed people with ancestry contributions […]
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
Spinocerebellar ataxias (SCAs) are a group of genetically diverse neurodegenerative disorders causing cerebellar degeneration and progressive ataxia. We identified an autosomal dominant SCA family (SCA40) which displays typical cerebellar ataxia signs and pontocerebellar atrophy. By performing whole-exome sequencing on multiple members of this family, we found a novel missense mutation in the gene CCDC88C in […]
Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research
This Position Paper draws together the emerging evidence that the early life experience of parents and/or ancestors can influence development and common disease risk in the current generation, with the aim of promoting human transgenerational research . The few human observational studies reported to date of the effects of ancestral exposures (such as nutrition or […]
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance
Prevalence of osteoarthritis (OA), a disabling disease of the joints, increases with age which is expected to become a major problem in health care given the growing elderly population and the poor treatment options. Research to apply potential biomarkers such as serum COMP or urinary CTX-II to monitor OA is promising. However, adequate discrimination between […]