Characterizing the genetic architecture of Parkinson's disease in Latinos
Objective This work was undertaken in order to identify Parkinson's disease (PD) risk
variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in …
variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in …
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
S Paolacci, Y Li, E Agolini, E Bellacchio… - Journal of medical …, 2018 - jmg.bmj.com
Background Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria
presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised …
presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised …
Genome‐Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients
EI Sarihan, E Pérez‐Palma, LM Niestroj… - Movement …, 2021 - Wiley Online Library
Background Parkinson's disease is the second most common neurodegenerative disorder
and affects people from all ethnic backgrounds, yet little is known about the genetics of …
and affects people from all ethnic backgrounds, yet little is known about the genetics of …
Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts
CT Báez-Becerra, E Valencia-Rincón… - Mechanisms of ageing …, 2020 - Elsevier
Recently, mutations in the RNA polymerase III subunit A (POLR3A) have been described as
the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS) …
the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS) …
Association analysis of polymorphisms in TOMM40, CR1, PVRL2, SORL1, PICALM, and 14q32. 13 regions in Colombian Alzheimer disease patients
J Ortega-Rojas, L Morales, E Guerrero… - Alzheimer Disease & …, 2016 - journals.lww.com
Objective: We evaluated the association of several single-nucleotide polymorphisms in
different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and …
different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and …
The Dca Gene Involved in Cold Adaptation in Drosophila melanogaster Arose by Duplication of the Ancestral regucalcin Gene
CE Arboleda-Bustos, C Segarra - Molecular Biology and …, 2011 - academic.oup.com
The Drosophila cold acclimation gene (Dca) is involved in the adaptive response to low
temperatures. This gene is upregulated at the transcriptional level when D. melanogaster …
temperatures. This gene is upregulated at the transcriptional level when D. melanogaster …
Differential methylation levels in CpGs of the BIN1 gene in individuals with Alzheimer disease
D Salcedo-Tacuma, JD Melgarejo… - Alzheimer Disease & …, 2019 - journals.lww.com
Objective: The objective of this study was to evaluate the BIN1 3′ intergenic region DNA
methylation patterns in a Colombian sample of LOAD patients. Methods: A case-control …
methylation patterns in a Colombian sample of LOAD patients. Methods: A case-control …
Genetic Variants and Haplotypes of TOMM40, APOE, and APOC1 are Related to the Age of Onset of Late-onset Alzheimer Disease in a Colombian Population
J Ortega-Rojas, CE Arboleda-Bustos… - Alzheimer Disease & …, 2022 - journals.lww.com
Background: The Apolipoprotein E (APOE) gene is the main risk factor for late-onset
Alzheimer disease (LOAD). Genetic variants and haplotypes in regions near the APOE locus …
Alzheimer disease (LOAD). Genetic variants and haplotypes in regions near the APOE locus …
The p. R47H variant of TREM2 gene is associated with late-onset alzheimer disease in colombian population
CE Arboleda-Bustos, J Ortega-Rojas… - Alzheimer Disease & …, 2018 - journals.lww.com
Objective: We evaluated the association of several single-nucleotide polymorphisms in the
triggering receptor expressed on myeloid cells 2 (TREM2) gene in a Colombian sample of …
triggering receptor expressed on myeloid cells 2 (TREM2) gene in a Colombian sample of …
[HTML][HTML] Tracing the distribution of European lactase persistence genotypes along the Americas
AC Guimarães Alves, NM Sukow… - Frontiers in …, 2021 - frontiersin.org
In adulthood, the ability to digest lactose, the main sugar present in milk of mammals, is a
phenotype (lactase persistence) observed in historically herder populations, mainly …
phenotype (lactase persistence) observed in historically herder populations, mainly …