LIM/25 - Laboratório de Endocrinologia Celular e Molecular
URI Permanente desta comunidade
O Laboratório de Endocrinologia Celular e Molecular é ligado ao Departamento de Clínica Médica da Faculdade de Medicina da Universidade de São Paulo (FMUSP).
Linhas de pesquisa: neoplasia endócrina múltipla tipo II; tumorigênese endócrina; diabetes mellitus; genes de candidatos a obesidade e obesidade infantil; biologia molecular da tireoide; genética do hipotireoidismo congênito e do câncer de tireoide; terapia gênica para câncer de tireoide; avaliação da excreção urinária da população.
Site oficial: http://limhc.fm.usp.br/portal/lim25-laboratorio-de-endocrinologia-celular-e-molecular/
Linhas de pesquisa: neoplasia endócrina múltipla tipo II; tumorigênese endócrina; diabetes mellitus; genes de candidatos a obesidade e obesidade infantil; biologia molecular da tireoide; genética do hipotireoidismo congênito e do câncer de tireoide; terapia gênica para câncer de tireoide; avaliação da excreção urinária da população.
Site oficial: http://limhc.fm.usp.br/portal/lim25-laboratorio-de-endocrinologia-celular-e-molecular/
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Coleções desta Comunidade
- LIM/25 - Laboratório de Endocrinologia Celular e Molecular
- LIM/25 - Laboratório de Endocrinologia Celular e Molecular
- LIM/25 - Laboratório de Endocrinologia Celular e Molecular
Submissões Recentes
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
(2022) BRAGA, B. L.; GOMES, N. L.; NISHI, M. Y.; FREIRE, B. L.; BATISTA, R. L.; FARIA JUNIOR, J. A. D.; FUNARI, M. F. A.; BENEDETTI, A. F. F.; NARCIZO, A. De Moraes; CARDOSO, L. Cavalca; LERARIO, A. M.; GUERRA-JUNIOR, G.; COSTA, E. M. F.; DOMENICE, S.; JORGE, A. A. L.; MENDONCA, B. B.
Hypospadias is a common congenital disorder of male genital formation. Children born small for gestational age (SGA) present a high frequency of hypospadias of undetermined etiology. No previous study investigated the molecular etiology of hypospadias in boys born SGA using massively parallel sequencing. Our objective is to report the genetic findings of a cohort of patients born SGA with medium or proximal hypospadias. We identified 46 individuals with this phenotype from a large cohort of 46,XY DSD patients, including 5 individuals with syndromic features. DNA samples from subjects were studied by either whole exome sequencing or target gene panel approach. Three of the syndromic patients have 5 main clinical features of Silver-Russell syndrome (SRS) and were first studied by MLPA. Among the syndromic patients, loss of DNA methylation at the imprinting control region H19/IGF2 was identified in 2 individuals with SRS clinical diagnosis. Two novel pathogenic variants in compound heterozygous state were identified in the CUL7 gene establishing the diagnosis of 3M syndrome in one patient, and a novel homozygous variant in TRIM37 was identified in another boy with Mulibrey nanism phenotype. Among the non-syndromic subjects, 7 rare heterozygous variants were identified in 6 DSD-related genes. However, none of the variants found can explain the phenotype by themselves. In conclusion, a genetic defect that clarifies the etiology of hypospadias was not found in most of the non-syndromic SGA children, supporting the hypothesis that multifactorial causes, new genes, and/or unidentified epigenetic defects may have an influence in this condition.
RESPONSE TO RHGH THERAPY IN SHORT CHILDREN BORN AT VERY LOW BIRTH WEIGHT
(2023) MALAQUIAS, A. C.; HOMMA, T.; DANTAS, M. C. B.; FREIRE, B. L.; ALBUQUE, E. V. A.; ARNHOLD, I. J. P.; VASQUES, G. A.; JORGE, A. A. L.
A systematic review of core outcomes reported in clinical trials of growth hormone therapy in children with growth hormone deficiency
(2023) TSERETOPOULOU, Xanthippi; LUCAS-HERALD, Angela; CHEN, Jiajia; BACHEGA, Tania; CHARMANDARI, Evangelia; CHOI, Jin-Ho; DOU, Xinyu; GONG, Chunxiu; HAMZA, Rasha; HARVEY, Jamie; HOFFMAN, Andrew R.; HORIKAWA, Reiko; JOHANNSSON, Gudmundur; JORGE, Alexander; MILLER, Bradley S.; ROEHRICH, Sebastian; SAVENDAHL, Lars; VITALI, Diana; WAJNRAJCH, Michael; CHEN, Suet Ching; AHMED, Syed Faisal
Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes
(2023) REZENDE, Raissa; SCHAFER, Evan; KAISINGER, Lena; HE, Wen; ANDRADE, Nathalia; DANTAS, Naiara; CELLIN, Laurana; QUEDAS, Elisangela; PERRY, John; HOWARD, Sasha; LATRONICO, Ana Claudia; CHAN, Yee-Ming; JORGE, Alexander
Outcomes in growth hormone (GH)-treated Noonan syndrome (NS) children: impact of PTPN11 mutation status
(2023) JORGE, Alexander; PIETROPOLI, Alberto; KELEPOURIS, Nicky; HORIKAWA, Reiko