Huntington disease-like 2: insight into neurodegeneration from an African disease

A Krause, DG Anderson, A Ferreira-Correia… - Nature Reviews …, 2024 - nature.com
Abstract Huntington disease (HD)-like 2 (HDL2) is a rare genetic disease caused by an
expanded trinucleotide repeat in the JPH3 gene (encoding junctophilin 3) that shows …

Assessment of dental age estimation methods applied to Brazilian children: a systematic review and meta-analysis

A Franco, MN de Oliveira… - Dentomaxillofacial …, 2021 - academic.oup.com
Objectives: To review the scientific literature of studies on dental age estimation methods
applied to Brazilian children. Methods: A systematic literature review was designed …

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

RSC Guindalini, DV Viana, JPFW Kitajima… - Scientific reports, 2022 - nature.com
Genetic diversity of germline variants in breast cancer (BC) predisposition genes is
unexplored in miscegenated populations, such those living in Latin America. We evaluated …

How HLA diversity is apportioned: influence of selection and relevance to transplantation

AS Maróstica, K Nunes, EC Castelli… - … of the Royal …, 2022 - royalsocietypublishing.org
In his 1972 paper 'The apportionment of human diversity', Lewontin showed that, when
averaged over loci, genetic diversity is predominantly attributable to differences among …

Analysis of associations between the TLR3 SNPs rs3775291 and rs3775290 and COVID-19 in a cohort of professionals of Belém-PA, Brazil

MJA Silva, MCS Vieira, AB Souza… - Frontiers in Cellular …, 2023 - frontiersin.org
The objective of this article was to verify associations between the SNPs rs3775291
(Cytosine [C]> Thymine [T]) and rs3775290 (C> T) of TLR3 in professionals from Health …

Novel insights into Plasmodium vivax therapeutic failure: CYP2D6 activity and time of exposure to malaria modulate the risk of recurrence

ACR Silvino, FS Kano, MA Costa… - Antimicrobial Agents …, 2020 - Am Soc Microbiol
Plasmodium vivax relapse is one of the major causes of sustained global malaria
transmission. Primaquine (PQ) is the only commercial drug available to prevent relapses …

[HTML][HTML] An immunogenetic view of COVID-19

VRC Aguiar, DG Augusto, EC Castelli… - … and Molecular Biology, 2021 - SciELO Brasil
Meeting the challenges brought by the COVID-19 pandemic requires an interdisciplinary
approach. In this context, integrating knowledge of immune function with an understanding …

Amerindian genetic ancestry as a risk factor for tuberculosis in an amazonian population

DFVB Leal, MN Santana da Silva, DCRO Fernandes… - PLoS …, 2020 - journals.plos.org
In recent years, the incidence of tuberculosis (TB) has declined worldwide, although this
disease still occurs at relatively high rates in Amerindian populations. This suggests that the …

Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis

RL Sandoval, ACR Leite, DM Barbalho, DX Assad… - PloS One, 2021 - journals.plos.org
Brazil is the largest country in South America and the most genetically heterogeneous. The
aim of the present study was to determine the prevalence of germline pathogenic variants …

Performance and comparison of the London Atlas technique and Cameriere's third molar maturity index (I3M) for allocating individuals below or above the threshold of …

A de Moraes Correia, D da Silva Barbosa… - Forensic Science …, 2020 - Elsevier
Age estimation is an important procedure in the forensic practice, especially when it comes
to the criminal imputability of juvenile offenders. This study aimed to compare two …