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Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms
(Elsevier Ireland, 2021-08)
Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead ...
Variantes patogênicas e alteração da expressão em genes candidatos ao espectro óculo-aurículo-vertebral
(Universidade Federal de São Paulo (UNIFESP), 2018-12-20)
Objective: To investigate the presence of alterations in the sequence and expression
of candidate genes in a cohort of 73 patients diagnosed with oculoauriculovertebral
spectrum (OAVS). Methods: Next generation sequencing ...
Identificação e caracterização de variantes novas e raras da hemoglobina humanaIdentification of characterization of novel and rare variants of human hemoglobin
(Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, 2008)
Pesquisa de variantes genéticas no gene TP53 e avaliação do seu impacto no prognóstico da leucemia mielóide aguda de novo
(Universidade Federal de PernambucoUFPEBrasilPrograma de Pos Graduacao em Genetica, 2019)
Study of Ras/MAPK pathway gene variants in Chilean patients with Cryptorchidism
(Blackwell Publishing Ltd, 2018)
© 2018 American Society of Andrology and European Academy of AndrologyCryptorchidism is one of the most common congenital disorders in boys, and several genetic, hormonal, and environmental factors have been proposed as ...
EBNA-1 gene sequences in Brazilian and American patients with Hodgkin's disease
(Amer Soc Hematology, 1999-07-01)
We examined the types of Epstein-Barr virus-associated nuclear antigen-1 (EBNA-1) gene carboxy (C)-terminal mutations occurring in Hodgkin's disease (HD) and reactive tissues from two different geographic regions. Previously ...
EBNA-1 gene sequences in Brazilian and American patients with Hodgkin's disease
(Amer Soc Hematology, 1999-07-01)
We examined the types of Epstein-Barr virus-associated nuclear antigen-1 (EBNA-1) gene carboxy (C)-terminal mutations occurring in Hodgkin's disease (HD) and reactive tissues from two different geographic regions. Previously ...
Oncogenic potential diverge among human papillomavirus type 16 natural variants
(ACADEMIC PRESS INC ELSEVIER SCIENCESAN DIEGO, 2012)
We compared E6/E7 protein properties of three different HPV-16 variants: AA. E-P and E-350G. Primary human foreskin keratinocytes (PHFK) were transduced with HPV-16 E6 and E7 and evaluated for proliferation and ability to ...