A5023743476- Hemoglobin structure and function
- Hemoglobinopathies and Related Disorders
- Amino Acid Enzymes and Metabolism
- Folate and B Vitamins Research
- Biochemical and Molecular Research
- Neurological Disorders and Treatments
- Cholinesterase and Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Photosynthetic Processes and Mechanisms
- Genomics and Chromatin Dynamics
- Gastroesophageal reflux and treatments
- Neurogenetic and Muscular Disorders Research
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Fetal and Pediatric Neurological Disorders
- Plant Reproductive Biology
- Nitrogen and Sulfur Effects on Brassica
- Gastrointestinal motility and disorders
- Pharmaceutical studies and practices
- Metabolomics and Mass Spectrometry Studies
- Circadian rhythm and melatonin
- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- HIV Research and Treatment
- Pharmacogenetics and Drug Metabolism
Vanda Pharmaceuticals (United States)
2024-2025
Case Western Reserve University
2021-2023
University School
2021-2023
Alzheimer’s Disease Neuroimaging Initiative
2023
Union Bank of Switzerland
2023
Immunoglobulin mu-binding protein 2 (IGHMBP2) pathogenic variants lead to a spectrum of disorders characterized by alpha-motor neuron degeneration. We describe compound heterozygous patient diagnosed with Charcot-Marie-Tooth disease type 2S in IGHMBP2: missense variant acting trans confirmed intronic cryptic splice site variant. This was shown result the creation new acceptor site, loss reading frame and nonsense-mediated decay. designed 19-mer antisense oligonucleotide targeting this...
Abstract By transferring dominant male sterility (DMS), caused by the gene Ms, to genotypes with various types of cytoplasm 12 DMS lines were developed and a number crosses made between other Brassica napus. During course this population improvement programme, 16 identified as having capacity restore fertility F 1 plants Ms gene. According pedigree analysis, inhibitory in those probably originated from few Australia Germany. In further studies inheritance inhibition was determined, providing...
Abstract Uric acid concentrations are routinely measured during clinical laboratory evaluations, given serum urate levels correlate with blood pressure, metabolic syndrome, diabetes, gout, and cardiovascular disease. Circulating of uric influenced by a complex mix intrinsic environmental factors, including genetics, diet, drugs. We analyzed in recent phase 3 trial patients bipolar mania treated 24mg/day (12mg twice daily) the antipsychotic iloperidone or placebo. Initial results revealed...
Abstract Introduction We are conducting a double-blind, randomized, clinical study in Delayed Sleep-Wake Phase Disorder (DSWPD) participants with extensive phenotyping. evaluated screening Dim Light Melatonin Onset (DLMO) assessments DSWPD diagnosis to determine the proportion of and without circadian delay. Methods DLMO is occurring after or within 60 minutes before desired bedtime, 22:00. Each assessment consisted eight saliva collections performed at five, four, three, two, one hour...
A common two-exon deletion distinguishes the gene encoding free hemoglobin capturing protein-haptoglobin (HP)-into two alleles: HP1 and HP2. To evaluate impact of this copy number variant (CNV) on neurocognitive impairment (NCI) in people living with HIV, we imputed 432 European-descent (EUR) 491 African-descent (AFR) participants from CNS HIV Antiretroviral Therapy Effects Research Study using an optimized imputation pipeline evaluated its associations NCI. At baseline, AFR, HP2 allele...
Abstract Background Haptoglobin (HP) is an antioxidant of apolipoprotein E (APOE), and previous reports have shown HP binds with APOE amyloid-β (Aβ) to aid its clearance. A common structural variant the gene distinguishes it into two alleles: HP1 HP2 . Methods genotypes were imputed in 29 cohorts from Alzheimer’s Disease (AD) Genetics Consortium (N=22,651). Associations between polymorphism AD risk age onset through interactions investigated using regression models. Results The significantly...
Abstract Background Haptoglobin (HP) is an antioxidant of apolipoprotein E (APOE) – the strongest risk gene for sporadic Alzheimer’s disease (AD). The HP has two functional alleles, HP2 and HP1 , which contains a two‐exon deletion that changes its protein structure conformation. We hypothesize this structural variation associated with AD. Method To investigate this, we imputed genotypes 12,403 cases 11,699 normal controls from Disease Genetics Consortium (ADGC), respectively within each...
Abstract A large proportion of non-coding variants are present within binding sites transcription factors(TFs), which play a significant role in gene regulation. Thus, deriving the impact on TF is first step towards unravelling their regulatory roles associated disease traits. Most modern algorithms used for this purpose based convolutional neural network(CNN) architectures. However, these models incapable capturing positional effect different sub-sequences affinity. In paper, we utilize...