Featured Publications
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
Okashah S, Vasudeva D, Jerbi A, Khodjet-El-khil H, Al-Shafai M, Syed N, Kambouris M, Udassi S, Saraiva L, Al-Saloos H, Udassi J, Al-Shafai K. Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry. Genes 2022, 13: 1369. PMID: 36011280, PMCID: PMC9407366, DOI: 10.3390/genes13081369.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseWhole-exome sequencingGenetic etiology of congenital heart diseaseAmerican College of Medical GeneticsPotential genetic variantsPotential causative variantsPathogenesis of congenital heart diseaseChromosomal abnormalitiesCardiac RegistryEtiology of congenital heart diseaseResults of genetic testingDevelopment of congenital heart diseaseCausative variantsHeart diseaseIdentified variantsMedical geneticsExome sequencingExome analysisGenetic variantsGenetic causeGenetic etiologyCHD phenotypesFunctional studiesGenetic defectsPotential variants
2023
Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar
Mohammed I, Selvaraj S, Ahmed W, Al-Barazenji T, Hammad A, Dauleh H, Saraiva L, Al-Shafai M, Hussain K. Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar. International Journal Of Molecular Sciences 2023, 24: 16361. PMID: 38003551, PMCID: PMC10671262, DOI: 10.3390/ijms242216361.Peer-Reviewed Original ResearchConceptsCREB signaling pathwaysHeterozygous variantsSignaling pathwayVariants associated with obesityIn silico prediction toolsEffects of allelic variationFunctional impactIn silico analysisMonogenic obesityDownstream signaling cascadesLigand binding activityGT1-7 cellsObesity-related genesIdentified variantsAllelic variationFunctional characterizationSilico analysisSanger sequencingPathogenic variantsActivation of PKALeptin-melanocortin pathwaySignaling cascadesMonogenic forms of obesityGenesIn vitro analysis