Navegação Ciências Biológicas por Assunto "Mutação"

Resultados 1-10 de 10

    • African-specific molecular taxonomy of prostate cancer 

      Jaratlerdsiri, Weerachai; Brum, Ilma Simoni; Hayes, Vanessa M. (2022) [Artigo de periódico]
      Prostate cancer is characterized by considerable geo-ethnic disparity. African ancestry is a signifcant risk factor, with mortality rates across sub-Saharan Africa of 2.7-fold higher than global averages1 . The contributing ...

    • A case report on the challenging diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2) 

      Nunes, Andrea; Meira, Joanna; Cunha, Caio; Veiga, Marielza; Magalhães, Ana Paula Pereira Sholz de; Málaga, Diana Elizabeth Rojas; Giugliani, Roberto; Leão, Emília Katiane Embiruçu de Araújo (2020) [Artigo de periódico]
      Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient ...

    • Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) 

      Geberhiwot, Tarekegn; Giugliani, Roberto; Schuchman, Edward (2023) [Artigo de periódico]
      Background: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There ...

    • Genetics of Parkinson’s disease in Brazil : systematic review of monogenic forms 

      Lobato, Bruno Lopes dos Santos; Schuh, Artur Francisco Schumacher; Mata, Ignacio Fernandez; Letro, Grace Helena; Braga Neto, Pedro; Brandão, Pedro Renato de Paula; Godeiro Júnior, Clécio de Oliveira; Coletta, Marcus Vinicius Della; Camargos, Sarah Teixeira; Borges, Vanderci; Rieder, Carlos Roberto de Mello; Tumas, Vitor (2021) [Artigo de periódico]
      Background: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different ...

    • Genome-wide interrogation of structural variation reveals novel African-specifc prostate cancer oncogenic drivers 

      Gong, Tingting; Jaratlerdsiri, Weerachai; Jiang, Jue; Willet, Cali; Chew, Tracy; Patrick, Sean M.; Lyons, Ruth J.; Haynes, Anne-Maree; Pasqualim, Gabriela; Brum, Ilma Simoni; Stricker, Phillip D.; Mutambirwa, Shingai B. A.; Sadsad, Rosemarie; Papenfuss, Anthony T.; Bornman, Riana M. S.; Chan, Eva K. F.; Hayes, Vanessa M. (2022) [Artigo de periódico]
      Background: African ancestry is a signifcant risk factor for advanced prostate cancer (PCa). Mortality rates in subSaharan Africa are 2.5-fold greater than global averages. However, the region has largely been excluded ...

    • Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants 

      Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, M.; Facchin, Ana Carolina Brusius; Chien, Yin-Hsiu; Giugliani, Roberto; Izzo, Emanuela; Kasper David C.; Lin, Hsiang-Yu; Lin, Shuan-Pei; Pollard, Laura Malinda; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim J.; Marrone, Amelia; Tomanin, Rosella (2021) [Artigo de periódico]
      Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly ...

    • Newborn screening for biotinidase deficiency in Brazil : biochemical and molecular characterizations 

      Camargo Neto, Eurico; Schulte, Jaqueline; Rubim, Rosália; Lewis, E.; De Mari, Jurema de Fatima; Castilhos, C.; Brites, Adriana; Giugliani, Roberto; Jensen, K.P.; Wolf, B. (2004) [Artigo de periódico]
      Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using ...

    • Phenotype-oriented NGS panels for mucopolysaccharidoses : validation and potential use in the diagnostic flowchart 

      Fachin, Ana Carolina Brusius; Siebert, Marina; Leão, Delva Pereira; Málaga, Diana Elizabeth Rojas; Pasqualim, Gabriela; Trapp, Franciele Barbosa; Matte, Ursula da Silveira; Giugliani, Roberto; Leistner-Segal, Sandra (2019) [Artigo de periódico]
      Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of ...

    • Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil 

      Giacomazzi, Juliana; Graudenz, Márcia Silveira; Osório, Cynthia Aparecida Bueno de Toledo; Santos, Patrícia Koehler dos; Palmero, Edenir Inêz; Oliveira, Marcelo Zagonel de; Michelli, Rodrigo Augusto Depieri; Scapulatempo Neto, Cristovam; Fernandes, Gabriela de Carvalho; Achatz, Maria Isabel Alves de Souza Waddington; Martel-Planche, Ghyslaine; Soares, Fernando A.; Caleffi, Maira; Goldim, José Roberto; Hainaut, Pierre; Camey, Suzi Alves; Prolla, Patrícia Ashton (2014) [Artigo de periódico]
      Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population ...

    • Qual a real ameaça das mutações do SARS-CoV-2? 

      Silva, Patrícia Valente da (2021) [Artigo de periódico]