A5027462550- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- RNA modifications and cancer
- Nanoparticle-Based Drug Delivery
- Renal and related cancers
- Congenital heart defects research
- Genetic and Kidney Cyst Diseases
- Glycosylation and Glycoproteins Research
- Genetic Syndromes and Imprinting
- Graphene and Nanomaterials Applications
- Galectins and Cancer Biology
- Cellular transport and secretion
- Ion Channels and Receptors
- Metabolism and Genetic Disorders
- Ion Transport and Channel Regulation
- RNA regulation and disease
- ATP Synthase and ATPases Research
- Proteoglycans and glycosaminoglycans research
- Congenital Anomalies and Fetal Surgery
- COVID-19 Impact on Reproduction
- Carbohydrate Chemistry and Synthesis
- Cystic Fibrosis Research Advances
- Cellular Mechanics and Interactions
King Saud bin Abdulaziz University for Health Sciences
2016-2022
National Guard Health Affairs
2016-2022
King Abdulaziz Medical City
2020-2022
King Abdullah International Medical Research Center
2016-2022
King Faisal Specialist Hospital & Research Centre
2013-2019
Background: In pregnant women at risk of autosomal recessive (AR) disorders, prenatal diagnosis AR disorders primarily involves invasive procedures, such as chorionic villus sampling and amniocentesis. Methods: We collected blood samples from four in their first trimester who presented a having child with an disorder. Cell-free DNA (cfDNA) was extracted, amplified, double-purified to reduce maternal interference. Additionally, whole-genome amplification performed for traces residual purified...
Background: Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women screening has been recently established Saudi Arabia. We aim from this study to report our experience the implementation of new technology clinical practice and assess factors influencing cell-free fetal (cffDNA) fraction successful NIPT reporting. Methods: In total, 200 were subjected test using standard methods. Next-generation sequencing (NGS) was used analyze cffDNA maternal plasma. Results: Out cases,...
Recently, high-throughput next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies techniques came into use. This technique is essential successful embryo transfer and accomplishing pregnancy, thus reducing the time cost of additional cycles. In this study, we describe our first experience in introducing an NGS-based aneuploidy (PGT-A) service using King Abdulaziz Medical City located Riyadh, Saudi Arabia. Our main goal was to report implementation new...
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved GDD ID. Homozygous variants EMC1 are associated with GDD, scoliosis, cerebellar atrophy, indicating relevance this pathway for neurogenetic disorders. EMC10 a bone marrow-derived angiogenic growth factor that plays an important role infarct...
Purpose: Anastrozole (ANS) is an aromatase inhibitor that widely used as a treatment for breast cancer in postmenopausal women. Despite the wide use of ANS, it associated with serious side effects due to uncontrolled delivery. In addition, ANS exhibits low solubility and short plasma half-life. Nanotechnology-based drug delivery has potential enhance efficacy drugs overcome undesirable effects. this study, we aimed prepare novel ANS-loaded PLA-PEG-PLA nanoparticles (ANS-NPs) compare...
Abstract Background RAP1GDS1 (RAP1, GTP‐GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. was shown to be highly expressed in different tissue types including the brain. However, mutations gene associated with human diseases have not previously been reported. Methods We report on four affected individuals, presenting intellectual disability, global developmental delay (GDD),...
UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of to produce UDP-glucuronic acid, a key component in the synthesis several polysaccharides such as glycosaminoglycan and disaccharide hyaluronic acid. UGDH is critical production extracellular matrix components which are essential migration connectivity neurons early human brain development. In this report, we describe one child consanguineous family who presented with distinct clinical...
Abstract Background Dilated cardiomyopathy with ataxia syndrome (DCMA) or 3‐methylglutaconic aciduria type V is a rare global autosomal recessive mitochondrial that clinically and genetically heterogeneous. It characterized by early‐onset dilated increased urinary excretion of acid. As result, some patients die due to cardiac failure, while others manifest growth retardation, microcytic anemia, mild ataxia, muscle weakness. DCMA caused variants in the DnaJ heat shock protein family (Hsp40)...
DEAF1 encodes a transcriptional binding factor and is regulator of serotonin receptor 1A. Its protein has significant expression in the neurons different brain regions involved early embryonic development. In addition, its role neural tube development evident from knockout mouse as many homozygotes have exencephaly. Heterozygous mutations this gene been linked to intellectual disability addition gene's involvement major depression, suicidal tendencies, panic disorder. clinical report, we...
Abstract Background Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system childhood. Our knowledge pathophysiological aspect this devastating increasing with advancement genetic and molecular testing. Case presentation Here in, we report two siblings a classical clinical radiological PCD. Using whole exome sequencing identified homozygous truncating variant (c.3402 T...
Von Willebrand A domain-containing protein 8 (VWA8), also named KIAA0564, is a poorly characterized, mitochondrial matrix-targeted having putative ATPase activity. VWA8 comprising of ATPase-associated domains and VWFA domain associated with activity inside the cell. In present study, we describe large consanguineous family Saudi origin segregating complex developmental syndrome in an autosomal recessive fashion. All affected individuals exhibited severe disorders. DNA from three patients was...
BackgroundPLA-PEG-PLA triblock polymer nanoparticles are promising tools for targeted dug delivery. The main aim in designing polymeric drug delivery is achieving a controlled and release of specific at the therapeutically optimal rate choosing suitable preparation method to encapsulate efficiently, which depends mainly on nature (hydrophilic or hydrophobic). In this study, methotrexate (MTX)-loaded were prepared by double emulsion method.MethodBiodegradable polyethylene glycol-polylactide...
CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known control signaling axis regulates several cellular functions, including cell progression, migration, and proliferation. However, functional characterization of gene in mammalian physiology remains largely unclear. Here, we report genetic a non-consanguineous Saudi with single affected individual. Clinical examinations revealed poor wound healing, heterotopia brain, pancytopenia, recurrent infections. Whole...
Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role the development of organs, physiology, and signaling pathways, sequence variations genes encoding these are associated with multisystem disorders. In this study, we describe a severe ciliopathy disorder segregates autosomal recessive manner nonconsanguineous Saudi family. The proband exhibited features such as cholestasis, cystic dilatation intrahepatic...
15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among cohort 150 neurodevelopmental cases, we identified two patients close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, characterized these and their approximate breakpoints. The second deletion in both overlaps small area containing CHRNA7 where the gene partially deleted. considered strong candidate for syndrome's pathogenicity. Patient 1 has cognitive...
Abstract Background Congenital disorders of glycosylation (CDG) are a group heterogeneous caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK‐induced CDG (FCSK–CDG) has only previously three unrelated children. Methods In this study, we genetically and clinically examined 3‐year‐old proband with resolved infantile spasms normal development. Standard whole‐exome sequencing (WES) Sanger were performed identify functional...