2024
Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome
Zarate Y, Bosanko K, Derar N, Fish J. Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome. Clinical Genetics 2024, 106: 209-213. PMID: 38693682, PMCID: PMC11216868, DOI: 10.1111/cge.14540.Peer-Reviewed Original ResearchConceptsSATB2-associated syndromeMutant miceAutosomal dominant disorderAnalyzed mutant miceEmbryonic mouse developmentDental anomaliesCraniofacial abnormalitiesMandibular distractionTrigeminal gangliaCraniofacial phenotypeClinical phenotypeDominant disorderCraniofacial developmentMouse developmentMicePhenotypic aspectsPatient dataThyroidSyndromeAbnormalitiesLower jawPharyngeal arch-derived structuresSATB2Mandibular morphologyPhenotype
2023
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Shamseldin H, Derar N, Alzaidan H, AlHathal N, Alfalah A, Abdulwahab F, Alzaid T, Alkeraye S, Alobaida S, Alkuraya F. PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis. Human Genetics 2023, 142: 477-482. PMID: 36715754, DOI: 10.1007/s00439-023-02527-3.Peer-Reviewed Original ResearchConceptsCanonical splice sitesAssociated with reduced abundanceDeleterious variantsLinkage locusSplice siteNormal transcriptionMissense variantsExome sequencingConsanguineous familyAutosomal recessive ichthyosisRecessive ichthyosisPRSS8VariantsKnockout miceCongenital ichthyosisExomeProstasinSkin histopathologyHuman patientsMissenseScaly skinLociIchthyosisTranscriptionFamily
2013
Ahsg-fetuin blocks the metabolic arm of insulin action through its interaction with the 95-kD β-subunit of the insulin receptor
Goustin A, Derar N, Abou-Samra A. Ahsg-fetuin blocks the metabolic arm of insulin action through its interaction with the 95-kD β-subunit of the insulin receptor. Cellular Signalling 2013, 25: 981-988. PMID: 23314177, DOI: 10.1016/j.cellsig.2012.12.011.Peer-Reviewed Original ResearchConceptsB subunitInsulin-stimulated GLUT4 translocationHigh-affinity binding of insulinLevel of tyrosine phosphorylationA subunitInsulin receptorTyrosine kinaseInhibiting insulin receptorTreatment of myogenic cellsFurin processing siteSignal peptideGLUT4 translocationHigh-affinity bindingTyrosine phosphorylationATP-dependent systemHEK293 transfected cellsBinding of insulinInsulin signalingProcessing siteTransfected cellsIntact cellsAkt activationAkt phosphorylationLiving cellsHEK293 cells