Search Results - "Lemos, Manuel C"

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene by Lemos, Manuel C, Thakker, Rajesh V

“…Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of tumors of the parathyroids, pancreas, and…”
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Vascular mechanisms of testosterone: The non-genomic point of view by Lorigo, Margarida, Mariana, Melissa, Lemos, Manuel C., Cairrao, Elisa

“…[Display omitted] •The main non-genomic vascular mechanism of Testosterone (T) is vasorelaxation.•T causes dependent-endothelium vasodilation by Gi/o protein…”
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Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients by Gonçalves, Catarina I, Carriço, Josianne, Bastos, Margarida, Lemos, Manuel C

“…The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or…”
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Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site by Gonçalves, Catarina I., Carriço, Josianne N., Omar, Omneya M., Abdalla, Ebtesam, Lemos, Manuel C.

“…The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating…”
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Iodine Supplementation in Pregnancy in an Iodine-Deficient Region: A Cross-Sectional Survey by Lopes, Carla A, Prazeres, Susana, Martinez-de-Oliveira, José, Limbert, Edward, Lemos, Manuel C

“…Iodine deficiency is a common problem in pregnant women and may have implications for maternal and child health. Iodine supplementation during pregnancy has…”
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Parathyroid identification by autofluorescence - preliminary report on five cases of surgery for primary hyperparathyroidism by Serra, Carlos, Silveira, Luís, Canudo, António, Lemos, Manuel C

“…Intra-operative identification of parathyroid glands is often a challenge for surgeons performing parathyroid or thyroid surgery. Parathyroid glands stimulated…”
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Age, Sex Hormones, and Circadian Rhythm Regulate the Expression of Amyloid-Beta Scavengers at the Choroid Plexus by Duarte, Ana C, Furtado, André, Hrynchak, Mariya V, Costa, Ana R, Talhada, Daniela, Gonçalves, Isabel, Lemos, Manuel C, Quintela, Telma, Santos, Cecília R A

“…Accumulation of amyloid-beta (Aβ) in the brain is thought to derive from the impairment of Aβ clearance mechanisms rather than from its overproduction, which…”
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Maternal Urinary Iodine Concentration during Pregnancy and Its Impact on Child Growth and Neurodevelopment: An 11-Year Follow-Up Study by Lopes, Carla A., Duarte, Marta, Prazeres, Susana, Carvalho, Ivone, Vilarinho, Laura, Martinez-de-Oliveira, José, Limbert, Edward, Lemos, Manuel C.

“…Mild-to-moderate iodine deficiency during pregnancy is prevalent worldwide, but its consequences for maternal and child health are not clear. We aimed to…”
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A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism by Fadiga, Lúcia, Lavrador, Mariana, Vicente, Nuno, Barros, Luísa, Gonçalves, Catarina I, Al-Naama, Asma, Saraiva, Luis R, Lemos, Manuel C

“…Congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive endocrine disorder characterized by complete or partial failure of pubertal development…”
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UV-B Filter Octylmethoxycinnamate Induces Vasorelaxation by Ca2+ Channel Inhibition and Guanylyl Cyclase Activation in Human Umbilical Arteries by Lorigo, Margarida, Quintaneiro, Carla, Lemos, Manuel, Martinez-de-Oliveira, José, Breitenfeld, Luiza, Cairrao, Elisa

“…Ultraviolet (UV) filters are chemicals widely used in personal care products (PCPs). Due to their effect as endocrine disruptor compounds (EDCs), the toxicity…”
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A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study by Gaspar, Leonor M., Gonçalves, Catarina I., Fonseca, Fernando, Carvalho, Davide, Cortez, Luísa, Palha, Ana, Barros, Inês F., Nobre, Ema, Duarte, João S., Amaral, Cláudia, Bugalho, Maria J., Marques, Olinda, Pereira, Bernardo D., Lemos, Manuel C.

“…The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL…”
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Association of RET genetic polymorphisms and haplotypes with papillary thyroid carcinoma in the Portuguese population: a case-control study by Santos, Marina, Azevedo, Teresa, Martins, Teresa, Rodrigues, Fernando J, Lemos, Manuel C

“…Thyroid cancer has a multifactorial aetiology resulting from the interaction of genetic and environmental factors. Several low penetrance susceptibility genes…”
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The Glucocorticoid Receptor Gene ( NR3C1 ) 9β SNP Is Associated with Posttraumatic Stress Disorder by Castro-Vale, Ivone, Durães, Cecília, van Rossum, Elisabeth F C, Staufenbiel, Sabine M, Severo, Milton, Lemos, Manuel C, Carvalho, Davide

“…Posttraumatic stress disorder (PTSD) has been associated with glucocorticoid (GC) hypersensitivity. Although genetic factors account for 30-46% of the variance…”
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Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform by Gonçalves, Catarina, M.Sc, Bastos, Margarida, M.D, Pignatelli, Duarte, M.D., Ph.D, Borges, Teresa, M.D, Aragüés, José M., M.D, Fonseca, Fernando, M.D, Pereira, Bernardo D., M.D, Socorro, Sílvia, Ph.D, Lemos, Manuel C., M.D., Ph.D

“…Objective To determine the prevalence of fibroblast growth factor receptor 1 ( FGFR1 ) mutations and their predicted functional consequences in patients with…”
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Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia by Harding, Brian, Lemos, Manuel C, Reed, Anita A C, Walls, Gerard V, Jeyabalan, Jeshmi, Bowl, Michael R, Tateossian, Hilda, Sullivan, Nicky, Hough, Tertius, Fraser, William D, Ansorge, Olaf, Cheeseman, Michael T, Thakker, Rajesh V

“…Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized in man by parathyroid, pancreatic, pituitary and adrenal tumours…”
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Promoter Demethylation Upregulates STEAP1 Gene Expression in Human Prostate Cancer: In Vitro and In Silico Analysis by Rocha, Sandra M., Sousa, Inês, Gomes, Inês M., Arinto, Patrícia, Costa-Pinheiro, Pedro, Coutinho, Eduarda, Santos, Cecília R., Jerónimo, Carmen, Lemos, Manuel C., Passarinha, Luís A., Socorro, Sílvia, Maia, Cláudio J.

“…The Six Transmembrane Epithelial Antigen of the Prostate (STEAP1) is an oncogene overexpressed in several human tumors, particularly in prostate cancer (PCa)…”
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MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas by WALLS, Gerard V, LEMOS, Manuel C, CHRISTIE, Paul T, ANSORGE, Olaf, CLARKE, Kieran, SEYMOUR, Len, THAKKER, Rajesh V, JAVID, Mahsa, BAZAN-PEREGRINO, Miriam, JEYABALAN, Jeshmi, REED, Anita A. C, HARDING, Brian, TYLER, Damian J, STUCKEY, Daniel J, PIRET, Sian

“…Multiple endocrine neoplasia type 1 (MEN1) is characterized by the combined occurrence of pituitary, pancreatic, and parathyroid tumors showing loss of…”
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GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders by Lemos, Manuel C., Thakker, Rajesh V.

“…ABSTRACT Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association…”
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Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations by Lemos, Manuel C., Thakker, Rajesh V.

“…The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by heterozygous mutations of the GATA3 gene. In…”
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GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism by Gonçalves, Catarina I, Aragüés, José M, Bastos, Margarida, Barros, Luísa, Vicente, Nuno, Carvalho, Davide, Lemos, Manuel C

“…Objective Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to…”
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