A5044788921- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Electromagnetic Scattering and Analysis
- Sperm and Testicular Function
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Cancer Cells and Metastasis
- Cellular transport and secretion
- Ubiquitin and proteasome pathways
- Gene expression and cancer classification
- Bioinformatics and Genomic Networks
- Cardiomyopathy and Myosin Studies
- Sexual Differentiation and Disorders
- Ferroptosis and cancer prognosis
- Cancer Genomics and Diagnostics
- Muscle Physiology and Disorders
- RNA Research and Splicing
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Neurogenetic and Muscular Disorders Research
- Electromagnetic Compatibility and Measurements
- Genetic Neurodegenerative Diseases
King Faisal Specialist Hospital & Research Centre
2015-2024
Cornell University
2022
Akdeniz University
2021
Alfaisal University
2020
King Fahd Medical City
2014
Institut thématique Génétique, génomique et bioinformatique
2012
Cancer Research And Biostatistics
2012
Western University
2011
The Ohio State University
1995-2006
Antalya IVF
2003
The T-cell inhibitory molecule PD-L1 (B7-H1, CD274) is expressed on tumor cells of a subset breast cancer patients. However, the mechanism that regulates expression in this group patients still not well-identified. We have used loss and gain function gene manipulation approach, multi-parametric flow cytometry, large scale dataset analysis immunohistochemistry tissue sections. Induction epithelial to mesenchymal transition (EMT) human mammary upregulated expression, which was dependent mainly...
The expression of PD‐L1 in breast cancer is associated with estrogen receptor negativity, chemoresistance and epithelial‐to‐mesenchymal transition (EMT), all which are common features a highly tumorigenic subpopulation cells termed stem (CSCs). Hitherto, the intrinsic role dynamics CSCs has not been investigated. To address this issue, we used transcriptomic datasets, proteomics several vitro vivo assays. Expression profiling large dataset (530 patients) showed statistically significant...
BACKGROUND Primordial dwarfism (PD) is an extremely rare, clinicallyheterogeneous condition characterised by profound prenatal and postnatal growth restriction among other manifestations that are helpful in the clinical classification. Recently, mutation of PCNT was reported context two overlapping forms PD: Seckel syndrome Majewskiosteodysplastic primordial type II (MOPDII). AIM To clinically molecularly characterise a consanguineous family with syndrome. METHODS Clinical evaluation,...
Breast cancer in young women is more aggressive with a poorer prognosis and overall survival compared to older diagnosed the disease. Despite recent research, underlying biology molecular alterations that drive nature of breast tumors associated have yet be elucidated. In this study, we performed transcriptomic profile network analyses arising Middle Eastern identify age-specific gene signatures. Moreover, studied progression using cross-species comparative genomics approach coupled copy...
<h3>Background</h3> There are numerous nuclear genes that cause mitochondrial disorders and clinically genetically heterogeneous whose aetiology often remains unsolved. In this study, we aim to investigate an autosomal recessive syndrome causing leukodystrophy neuroregression. We studied six patients from five unrelated consanguineous families. <h3>Methods</h3> Patients underwent full neurological, radiological, genetic, metabolic dysmorphological examinations. Exome sequencing coupled with...
Primary microcephaly (PM) is a developmental disorder of early neuroprogenitors that results in reduction the brain mass, particularly cortex. To gain fresh insight into pathogenesis PM, we describe consanguineous family with novel genetic variant responsible for disease. We performed autozygosity mapping followed by exome sequencing to detect causal variant. Several functional assays cells expressing wild-type or mutant gene were understand identified mutation. identify mutation PHC1, human...
Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective spliceosomal machinery, replication licensing. Here, we describe syndromic form of PD associated with severe intellectual disability distinct facial features in large multiplex Saudi family. Analysis reveals novel underlying mechanism for...
Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with severe form intractable epilepsy, delay, progressive microcephaly, visual disturbance similar minor dysmorphisms. Whole exome sequencing identified recurrent, homozygous variant (chr2:64083454A > G) the essential UDP-glucose pyrophosphorylase (UGP2)...
Abstract Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies vacuolar sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation macromolecules organelles are linked to human disease. VPS proteins function as part complexes such the homotypic fusion vacuole (HOPS) tethering composed VPS11, VPS16, VPS18, VPS33A, VPS39 VPS41. The HOPS-specific subunit VPS41 has been reported...
Breast cancer remains the second cause of tumor‐related mortality in women worldwide mainly due to chemoresistance and metastasis. The metastasis are attributed a rare subpopulation with enriched stem‐like characteristics, thus called Cancer Stem Cells (CSCs). We have previously reported aberrant expression actin‐bundling protein (fascin) breast cells, which enhances their chemoresistance, enriches CSC population. intracellular mechanisms that link fascin its downstream effectors not fully...
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified bi-allelic truncating variants in AMFR, encoding a RING-H2 finger E3 ubiquitin ligase anchored at the membrane of endoplasmic reticulum (ER), two previously genetically unexplained HSP-affected siblings. Subsequently, international collaboration...
Abstract We define the neurological characteristics of familial cases from multiple branches a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by mutation in recently cloned CA8 gene. The linkage analysis revealed high logarithm odds (LOD) score region on 8q that harbors which novel homozygous c.484G>A (p.G162R) was identified all seven affected members. patients had variable ataxia mild cognitive impairment without...
Background The cyclin-D/CDK4,6/p16INK4a/pRB/E2F pathway, a key regulator of the critical G1 to S phase transition cell cycle, is universally disrupted in human cancer. However, precise function different members this pathway and their functional interplay are still not well defined. Methodology/Principal Findings We have shown here that tumor suppressor p16INK4a protein positively controls expression cyclin D1 E2F1 both mouse cells. stabilizes mRNAs corresponding genes through negative...
The disease pathways leading to idiopathic dilated cardiomyopathy (DCM) are still elusive. present study investigated integrated global transcriptional and translational changes in human DCM for biomarker discovery.We used identical myocardial tissues from five hearts compared non-failing (NF) donor both transcriptome profiling using the ABI high-density oligonucleotide microarrays proteome expression with One-Dimensional Nano Acquity liquid chromatography coupled tandem mass spectrometry on...
Dexamethasone (Dex) is a synthetic glucocorticoid (GC) drug commonly used clinically for the treatment of several inflammatory and immune-mediated diseases. Despite its broad range indications, long-term use Dex known to be associated with specific abnormalities in tissues organs. In this study, metabolomic effects on five different organs induced by chronic administration Sprague-Dawley rat model were investigated using chemical isotope labeling liquid chromatography-mass spectrometry (CIL...
The within-subject coefficient of variation and intra-class correlation are commonly used to assess the reliability or reproducibility interval-scale measurements. Comparison measurement devices methods on same set subjects comes down comparison dependent parameters. In this paper, we develop several procedures for testing equality two coefficients computed from sample subjects, which is, best our knowledge, has not yet been dealt with in statistical literature. Wald test, likelihood ratio,...
Hereditary hyperekplexia (HH) is a disorder of the inhibitory glycinergic neurotransmitter system. Mutations in five genes have been reported to cause disease. However, only single mutation GLRB, gene encoding beta-subunit glycine receptor, singleton patient with HH has found date. In this study, 13 patients were identified through neurology and genetic clinics. Formal clinical examinations, linkage analysis, homozygosity mapping, in-mutation screening GLRB silico functional analyses carried...