[HTML][HTML] Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

S Haworth, CY Shapland, C Hayward, BP Prins… - Nature …, 2019 - nature.com
Cranial growth and development is a complex process which affects the closely related traits
of head circumference (HC) and intracranial volume (ICV). The underlying genetic …

Novel genetic loci underlying human intracranial volume identified through genome-wide association

HHH Adams, DP Hibar, V Chouraki, JL Stein… - Nature …, 2016 - nature.com
Intracranial volume reflects the maximally attained brain size during development, and
remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes …

Common variants at 6q22 and 17q21 are associated with intracranial volume

Nature genetics, 2012 - nature.com
During aging, intracranial volume remains unchanged and represents maximally attained
brain size, while various interacting biological phenomena lead to brain volume loss …

[HTML][HTML] The predictive value of head circumference growth during the first year of life on early child traits

C Dupont, N Castellanos-Ryan, JR Séguin, G Muckle… - Scientific reports, 2018 - nature.com
Atypical head circumference (HC) growth has been associated with neurodevelopmental
disorders. However, whether it is associated with specific aspects of development in early …

Deletions linked to TP53 loss drive cancer through p53-independent mechanisms

Y Liu, C Chen, Z Xu, C Scuoppo, CD Rillahan, J Gao… - Nature, 2016 - nature.com
Mutations disabling the TP53 tumour suppressor gene represent the most frequent events in
human cancer and typically occur through a two-hit mechanism involving a missense …

Common variants at 12q15 and 12q24 are associated with infant head circumference

HR Taal, B St Pourcain, E Thiering, S Das… - Nature …, 2012 - nature.com
To identify genetic variants associated with head circumference in infancy, we performed a
meta-analysis of seven genome-wide association studies (GWAS)(N= 10,768 individuals of …

Mutational processes shape the landscape of TP53 mutations in human cancer

AO Giacomelli, X Yang, RE Lintner, JM McFarland… - Nature …, 2018 - nature.com
Unlike most tumor suppressor genes, the most common genetic alterations in tumor protein
p53 (TP53) are missense mutations,. Mutant p53 protein is often abundantly expressed in …

Updates from the TP53 universe

F Pentimalli - Cell Death and Differentiation, 2018 - nature.com
TP53 is the most frequently mutated gene in cancer and its study helped to define
fundamental principles underlying tumorigenesis. However, despite over three decades of …

Genetic influences on longitudinal trajectories of cortical thickness and surface area during the first 2 years of life

K Xia, JE Schmitt, SC Jha, JB Girault, E Cornea… - Cerebral …, 2022 - academic.oup.com
Genetic influences on cortical thickness (CT) and surface area (SA) are known to vary
across the life span. Little is known about the extent to which genetic factors influence CT …

A link between TP53 polymorphisms and metabolism

CP Kung, S Basu, ME Murphy - Molecular & Cellular Oncology, 2016 - Taylor & Francis
Besides being a critical tumor suppressor, the TP53 gene also plays a role in metabolism
and recent studies in humans have implicated the codon 72 polymorphism of TP53 in this …