A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism
Fadiga L, Lavrador M, Vicente N, Barros L, Gonçalves C, Al-Naama A, Saraiva L, Lemos M. A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism. International Journal Of Molecular Sciences 2022, 23: 4423. PMID: 35457241, PMCID: PMC9026826, DOI: 10.3390/ijms23084423.Peer-Reviewed Original ResearchConceptsCongenital hypogonadotropic hypogonadismMissense mutationsFibroblast growth factor receptor 1Sequence-based prediction methodsPathogenesis of CHHFailure of pubertal developmentIdentified missense mutationsFibroblast growth factor receptor 1 geneHypogonadotropic hypogonadismWhole-exome sequencingNormosmic congenital hypogonadotropic hypogonadismHeterozygous missense mutationExome sequencingGenetic studiesGrowth factor receptor 1Mutation spectrumFibroblast growth factor receptor 1 proteinIncomplete penetranceGonadotropin-releasing hormoneReproductive endocrine disordersAffected siblingsAmino acidsMutationsGenetic defectsGenesClinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus
Selvaraj S, Rodrigues D, Krishnamoorthy N, Fakhro K, Saraiva L, Lemos M. Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal Of Personalized Medicine 2022, 12: 118. PMID: 35055433, PMCID: PMC8779739, DOI: 10.3390/jpm12010118.Peer-Reviewed Original ResearchNephrogenic diabetes insipidusX-linked recessive nephrogenic diabetes insipidusRecessive nephrogenic diabetes insipidusMissense mutationsAquaporin-2Diabetes insipidusIn silico protein modelingCongenital nephrogenic diabetes insipidusArginine vasopressin receptor 2Plasma membrane localizationVolumes of dilute urineAverage urinary outputAVPR2</i> geneDownstream intracellular signaling pathwaysHeterozygous missense mutationX-linked recessive inheritanceVasopressin receptor 2Intracellular signaling pathwaysHuman cellular modelsResponse to water deprivationX chromosomePhenotypic effectsGenetic analysisTransmembrane domainMembrane localization
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply