A5049836140- Lipoproteins and Cardiovascular Health
- Fetal and Pediatric Neurological Disorders
- Connective tissue disorders research
- RNA modifications and cancer
- Cell Adhesion Molecules Research
- Genomics and Rare Diseases
- Connexins and lens biology
- Neurological diseases and metabolism
- Cardiac Structural Anomalies and Repair
- Congenital heart defects research
- Cellular transport and secretion
- Blood Coagulation and Thrombosis Mechanisms
- Autism Spectrum Disorder Research
- melanin and skin pigmentation
- Genetic Associations and Epidemiology
- Neonatal and fetal brain pathology
- Heme Oxygenase-1 and Carbon Monoxide
- Protein Kinase Regulation and GTPase Signaling
- Glycogen Storage Diseases and Myoclonus
- Biochemical and Molecular Research
- Protease and Inhibitor Mechanisms
- Genetics and Neurodevelopmental Disorders
- Bladder and Urothelial Cancer Treatments
- Aging, Health, and Disability
- Genetic Syndromes and Imprinting
Umm al-Qura University
2014-2025
King Abdullah International Medical Research Center
2025
King Faisal Specialist Hospital & Research Centre
2015-2024
University of Jeddah
2023
King Abdulaziz University
2023
British Columbia Children's Hospital
2019
University of British Columbia
2019
University of Manitoba
2013-2015
The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants tRNA-modification enzymes have been implicated wide range human neurodevelopmental neurological disorders. However, the molecular basis for many these disorders remains unknown. Here, we describe comprehensive cohort 43 individuals from 31 unrelated families with bi-allelic methyltransferase 1 (TRMT1). These present disorder universally characterized by developmental delay...
This review provides descriptive evidence for the potential sociodemographic risk factors of race/ethnicity, younger age, and socioeconomic status, as well immigrant effect in women with breast cancer (BC) across world regions countries. Using MEDLINE Web Science on epidemiology, incidence/mortality rates, social determinants, we searched a registry-based dataset reference lists prior reviews BC (code C50) from GLOBOCAN 2022 database National Cancer Institute's Surveillance, Epidemiology,...
Abstract Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor ( LDLR ) gene. Here, we describe two severely affected FH patients who were resistant to statin therapy and managed on apheresis program. We identified novel duplication variant c.1332dup, p.(D445*) at exon 9 known silent c.1413A>G, p.(=), rs5930, NM_001195798.1 10 of gene both patients.
Abstract Background Morquio‐B disease (MBD) is a distinct GLB1 ‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting mild phenocopy GALNS Morquio‐A disease. Methods We analyzed 63 (n = 62 published) cases with MBD to describe their clinical, biochemical genetic features. Results Forty‐one 51 informative clinical data had pure including progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly, odontoid hypoplasia....
Abstract The post-transcriptional modification of tRNAs plays a key role in tRNA folding and function to ensure proper levels protein synthesis during growth development. Pathogenic variants enzymes have been implicated diverse human neurodevelopmental neurological disorders. However, the molecular basis for many these disorders remains unknown, thereby limiting our understanding potential treatment pathologies linked modification. Here, we describe an extensive cohort 31 individuals from 24...
The
Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), Carpenter syndrome, Meckel syndrome. Aim In this report we discuss antenatal diagnosis congenital three related families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for third affected fetus. Results A WWS found molecular testing revealed known pathogenic mutation POMT2...
Background: The antigen processing 1 ( TAP1 ) and proteasome 20S subunit beta 9 PSMB9 genes are associated with strong susceptibility to many autoimmune diseases. Here, we explored whether TAP1/PSMB9 genetic variants, individually or combined, affected the complex, autoimmune-based skin disorder vitiligo. Methods: Samples of genomic DNA from buccal cells 172 patients vitiligo 129 healthy controls were analyzed using TaqMan™ genotyping assays for rs1135216 (A>G) rs17587 single nucleotide...
Classical lissencephaly may be associated with cerebellar hypoplasia and when significant abnormalities occur, defects in proteins encoded by TUBA1A, RELN, very-low-density lipoprotein receptor ( VLDLR) genes have been reported. We present a neonate severe neurologic phenotype hypotonia, oropharyngeal incoordination that required gastric tube for feeding, intractable epilepsy, congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly,...
Abstract This report describes two patients with INPPL1‐ related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high‐lethality associated particular pathogenic variants in INPPL1 gene. Prediction of lethality the prenatal setting has an impact on perinatal management. Some frameshift INPLL1 gene are uniquely observed lethal cases; however, more needed confirm correlation.
DYRK1A disorder is among the most frequent monogenic forms of intellectual disability (ID). The majority cases have been reported to be due de novo pathogenic variants in gene. This report describes second case inherited syndrome that had created issues around variant classification its inheritance from an apparently healthy mosaic mother.