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 …

Wiedemann–Rautenstrauch syndrome: a phenotype analysis

S Paolacci, D Bertola, J Franco… - American Journal of …, 2017 - Wiley Online Library
Wiedemann–Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder
characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies …

Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome): Report of three affected sibs

G Arboleda, LC Morales, L Quintero… - American Journal of …, 2011 - Wiley Online Library
Abstract The Wiedemann–Rautenstrauch syndrome (WRS)(OMIM 264090) is a rare
progeroid entity. WRS patients are characterized by premature aging present at birth …

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) …

A functional SNP in MIR124-1, a brain expressed miRNA gene, is associated with aggressiveness in a Colombian sample

Y Gonzalez-Giraldo, A Camargo, S Lopez-Leon… - European …, 2015 - cambridge.org
Background: Interpersonal violence and suicide are among the main causes of mortality and
morbidity around the world. In several develo** countries, such as Colombia, they are …

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

S Perrier, L Gauquelin, JA Wambach… - American journal of …, 2021 - pmc.ncbi.nlm.nih.gov
A recent report by Majethia and Girisha described a patient with biallelic pathogenic variants
in POLR3A and Wiedemann-Rautenstrauch syndrome. In this correspondence, we compare …

Functional polymorphisms in BDNF and COMT genes are associated with objective differences in arithmetical functioning in a sample of young adults

Y González-Giraldo, J Rojas, P Novoa, ST Mueller… - …, 2014 - karger.com
Background: Understanding the molecular genetics of complex human behaviors and
functions remains a substantial challenge for the neurosciences. Previous studies have …

Differences in planning performance, a neurocognitive endophenotype, are associated with a functional variant in PER3 gene

Y González-Giraldo, RE González-Reyes… - Chronobiology …, 2015 - Taylor & Francis
Performance alterations in executive function have been studied as potential
endophenotypes for several neuropsychiatric diseases. Planning is an important component …

BDNF Val66Met is associated with performance in a computerized visual-motor tracking test in healthy adults

Y González-Giraldo, ST Mueller, A Adan… - Motor …, 2016 - journals.humankinetics.com
The brain-derived neurotrophic factor gene (BDNF) is known to play an important role in
neuroplasticity and cognitive processes. We explored the association of BDNF Val66Met …

Situation awareness performance in healthy young adults is associated with a serotonin transporter gene polymorphism

Y González-Giraldo, RE González-Reyes… - Psychological …, 2018 - journals.sagepub.com
Background Situation awareness (SA) is defined in three levels: SA1 is the perception of the
elements in a specific context, SA2 is the comprehension of their meaning, and SA3 is the …