A5049754122- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Cassava research and cyanide
- Genetics and Neurodevelopmental Disorders
- Amoebic Infections and Treatments
- Pancreatitis Pathology and Treatment
- Prenatal Screening and Diagnostics
- Banana Cultivation and Research
- Evolutionary Psychology and Human Behavior
- Genetic Syndromes and Imprinting
- Metabolomics and Mass Spectrometry Studies
- Amino Acid Enzymes and Metabolism
- Immunodeficiency and Autoimmune Disorders
- African Botany and Ecology Studies
- Gut microbiota and health
- Viral Infections and Outbreaks Research
- Estrogen and related hormone effects
- Potato Plant Research
- Disaster Response and Management
- Biochemical and Molecular Research
- Child Nutrition and Water Access
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Viral Infections and Vectors
- Diet and metabolism studies
University of California, Los Angeles
2016-2024
UCLA Health
2024
Children's National
2018-2023
George Washington University
2021-2023
Can whole exome sequencing (WES) and in vitro validation studies be used to find the causative genetic etiology a patient with primary ovarian failure infertility? A novel follicle-stimulating hormone receptor (FSHR) mutation was found by WES shown, via flow cytometry studies, affect membrane trafficking. may diagnose up 25–35% of patients suspected disorders sex development (DSD). FSHR mutations are an extremely rare cause 46, XX gonadal dysgenesis amenorrhea due hypergonadotropic failure....
Abstract The mechanisms by which sex differences in the mammalian brain arise are poorly understood, but influenced a combination of underlying genetic and gonadal hormone exposure. Using mouse embryonic neural stem cell (eNSC) model to understand early events contributing sexually dimorphic development, we identified novel interactions between chromosomal hormonal exposure that instrumental differences. RNA-sequencing 103 transcripts were differentially expressed XX XY eNSCs at baseline...
One year after a Zaire ebolavirus (EBOV) outbreak occurred in the Boende Health Zone of Democratic Republic Congo during 2014, we sought to determine breadth immune response against diverse filoviruses including EBOV, Bundibugyo (BDBV), Sudan (SUDV), and Marburg (MARV) viruses. After assessing 15 survivors, 5 individuals demonstrated some degree reactivity multiple species and, instances, virus. All these survivors had immunoreactivity EBOV glycoprotein (GP) VP40, 4 nucleoprotein (NP). Three...
Konzo, a distinct upper motor neuron disease associated with cyanogenic diet and chronic malnutrition, predominately affects children women of childbearing age in sub-Saharan Africa. While the exact biological mechanisms that cause this have largely remained elusive, host-genetics environmental components such as gut microbiome been implicated. Using large study population 180 individuals from Democratic Republic Congo, where konzo is most frequent, we investigate how structure varied across...
Down syndrome is one of the most common chromosomal anomalies affecting world's population, with an estimated frequency 1 in 700 live births. Despite its relatively high prevalence, diagnostic rates based on clinical features have remained under 70% for developed world and even lower countries limited resources. While genetic cytogenetic confirmation greatly increases rate, such resources are often non-existent many low- middle-income countries, particularly Sub-Saharan Africa. To address...
Abstract Ammonia, which is toxic to the brain, converted into non‐toxic urea, through a pathway of six enzymatically catalyzed steps known as urea cycle. In this pathway, N‐acetylglutamate synthase (NAGS, EC 2.3.1.1) catalyzes formation (NAG) from glutamate and acetyl coenzyme A. NAGS deficiency (NAGSD) rarest cycle disorders, yet unique in that ureagenesis can be restored with drug N‐carbamylglutamate (NCG). We investigated whether rarity NAGSD could due low sequence variation genomic...
Abstract Background The exponential growth of high-throughput sequencing technologies was an incredible opportunity for researchers to combine various -omics within computational frameworks. Among these, metagenomics and metabolomics data have gained increasing interest due their involvement in many complex diseases. However, currently, no standard seems emerge jointly integrating both microbiome metabolome datasets statistical models. Results Thus, this paper we comprehensively benchmarked...