Mohammed Uddin
A5016707957- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- SARS-CoV-2 and COVID-19 Research
- Congenital heart defects research
- COVID-19 Clinical Research Studies
- Single-cell and spatial transcriptomics
- CRISPR and Genetic Engineering
- Prenatal Screening and Diagnostics
- interferon and immune responses
- Spondyloarthritis Studies and Treatments
- Diabetes and associated disorders
- Respiratory viral infections research
- CAR-T cell therapy research
- Inflammasome and immune disorders
- Kawasaki Disease and Coronary Complications
- Immunodeficiency and Autoimmune Disorders
- Immune Response and Inflammation
- Neonatal Respiratory Health Research
- Immune cells in cancer
- Systemic Lupus Erythematosus Research
- Assisted Reproductive Technology and Twin Pregnancy
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
Mohammed Bin Rashid University of Medicine and Health Sciences
2017-2025
Genome Canada
2021-2025
Bangladesh Agricultural University
2025
Maharishi International University
2024
South London and Maudsley NHS Foundation Trust
2023
Bangladesh Agricultural Research Institute
2014-2023
University of Medicine and Health Sciences
2021-2022
University of Bremen
2022
NeuroGenetic Pharmaceuticals (United States)
2022
Palmetto General Hospital
2022
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical genomic heterogeneity. Whole-genome sequencing (WGS) shows promise tool for identifying ASD risk genes well unreported mutations in known loci, but an assessment its full utility group has not been performed. We used WGS to examine 32 families with detect de novo or rare inherited variants predicted be deleterious...
The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study.To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group children ASD determine the diagnostic yield these sample typical developmental pediatric clinic.The consisted 258 consecutively ascertained unrelated who underwent detailed assessments define morphology scores based on presence major congenital...
De novo mutations (DNMs) are important in Autism Spectrum Disorder (ASD), but so far analyses have mainly been on the ~1.5% of genome encoding genes. Here, we performed whole sequencing (WGS) 200 ASD parent-child trios and characterized germline somatic DNMs. We confirmed that majority DNMs (75.6%) originated from father, these increased significantly with paternal age only (p=4.2×10-10). However, when clustered (those within 20kb) were found ASD, not did they mostly originate mother...
Rare copy number variants (CNVs) disrupting ASTN2 or both and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, its paralog ASTN1, key roles glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 ASTN1 (1q25.2) for exonic CNVs clinical microarray data from...
Activation of the sonic hedgehog (Shh) signaling pathway controls tumorigenesis in a variety cancers. Here, we show role for Shh promotion epithelial-to-mesenchymal transition (EMT), tumorigenicity, and stemness bladder cancer. EMT induction was assessed by decreased expression E-cadherin ZO-1 increased N-cadherin. The induced associated with cell motility, invasiveness, clonogenicity. These progression relevant behaviors were attenuated treatment Hh inhibitors cyclopamine GDC-0449, after...
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, intellectual disability; however, the mechanisms underlying pathogenesis of remain unknown. We combined whole-genome sequencing, human brain gene expression (proteome transcriptome), a mouse model syntenic heterozygous...
Characterizing key molecular and cellular pathways involved in COVID-19 is essential for disease prognosis management. We perform shotgun transcriptome sequencing of human RNA obtained from nasopharyngeal swabs patients with COVID-19, identify a signature associated severity. Specifically, we globally dysregulated immune related pathways, such as cytokine-cytokine receptor signaling, complement coagulation cascades, JAK-STAT, TGF- β signaling all, though to higher extent severe symptoms. The...
The tropism of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a virus responsible for the ongoing disease 2019 (COVID-19) pandemic, toward host cells is determined, at least in part, by expression and distribution its cell surface receptor, angiotensin-converting enzyme (ACE2). further exploits cellular machinery to gain access into cells; spike protein cleaved transmembrane serine protease (TMPRSS2) shortly after binding ACE2, followed proteolytic activation furin cleavage...
With ongoing improvements in the detection of complex genomic and epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly rare disease settings, where nearly half patients remain undiagnosed using existing technologies. Here, we report simplified funnel-down filtration strategy aimed at enhancing identification small large deleterious variants well abnormal episignature profiles from whole-genome LRS data....
PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side the body affected. Our earlier study unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) 9.6% participants. Here, we examined prevalence types CNVs specifically hemiplegic CP.MethodsWe genotyped 97 unrelated probands their parents. We compared to those 10,851 population controls, order identify (<0.1% frequency) that might be CP. also sequenced...
Chromosomal microarray analysis to assess copy-number variation has become a first-tier genetic diagnostic test for individuals with unexplained neurodevelopmental disorders or multiple congenital anomalies. More than 100 cytogenetic laboratories worldwide use the new ultra-high resolution Affymetrix CytoScan-HD array genotype hundreds of thousands samples per year. Our aim was develop resource from population sample that would enable more accurate interpretation clinical genetics data on...
Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence males and increased heritability. Since conditions are associated with copy number variations (CNVs), we considered their potential role the etiology of OCD. We genotyped 307 unrelated pediatric probands idiopathic OCD...
The COVID-19 pandemic is due to infection caused by the novel SARS-CoV-2 that impacts lower respiratory tract. spectrum of symptoms ranges from asymptomatic infections mild lethal form which associated with severe pneumonia, acute distress and fatality. At present, global case fatality rate laboratory confirmed cases ~4.7% ranging ~0.3-0.4% in Chile Israel ~10.8% Italy. To address this crisis, up-to-date information on viral genomics transcriptomics crucial for understanding origins...
Abstract The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations the proximal genes through which they act. In contrast, in present study we demonstrate feasibility of extracting biological insights from a very large region genome and leverage this strategy influences on autism. Using new statistical approach, identified 33-Mb p-arm chromosome 16 (16p) as harboring greatest excess autism’s common polygenic influences. also...