Featured Publications
Clinical, 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
2024
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort
Carriço J, Gonçalves C, Al-Naama A, Syed N, Aragüés J, Bastos M, Fonseca F, Borges T, Pereira B, Pignatelli D, Carvalho D, Cunha F, Saavedra A, Rodrigues E, Saraiva J, Ruas L, Vicente N, Martins J, De Sousa Lages A, Oliveira M, Castro-Correia C, Melo M, Martins R, Couto J, Moreno C, Martins D, Oliveira P, Martins T, Martins S, Marques O, Meireles C, Garrão A, Nogueira C, Baptista C, Gama-de-Sousa S, Amaral C, Martinho M, Limbert C, Barros L, Vieira I, Sabino T, Saraiva L, Lemos M. Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort. Human Reproduction Open 2024, 2024: hoae053. PMID: 39308770, PMCID: PMC11415827, DOI: 10.1093/hropen/hoae053.Peer-Reviewed Original ResearchCongenital hypogonadotropic hypogonadismPathogenic variantsGenetic causeRare sequence variantsCopy number variantsWhole-exome sequencingGenetically heterogeneous disorderPathogenic germline variantsGenetic architectureVariant interpretationOligogenic inheritanceSequence variantsGenetic screeningGenetic analysisPortuguese patientsNon-codingGenetic heterogeneityNovel variantsGermline variantsVUS variantsMutation spectrumAnalysed genesProportion of patientsGenesGenetic diagnosis