Results 221 to 230 of about 1,352,174 (294)

Background selection in recombining genomes and its consequences for the maintenance of variation in complex traits. [PDF]

Proc Natl Acad Sci U S A
Li X, Berg JJ.
europepmc   +1 more source

Population Genetics

The American Biology Teacher, 1945
openaire   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Maternal genetic structure and population affinities of the Sichuan Han Chinese based on whole mitochondrial genomes. [PDF]

BMC Genomics
Jiang X, Chen C, Zhao M, Hu L, Shi L, Tang T, Lv B, Ji S, Jia L, Pang J, Ma J, Mu B, Yang J.   +12 more
europepmc   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

Genetics of skeletal proportions across two different populations. [PDF]

Am J Hum Genet
Bartell E, Lin K, Tsuo K, Gan W, Vedantam S, Cole JB, Baronas JM, Yengo L, Marouli E, Amariuta T, Chen Z, Li L, GIANT consortium, China Kadoorie Biobank Collaborative Group, Renthal NE, Jacobsen CM, Salem RM, Walters RG, Hirschhorn JN.   +18 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. <i>Pediatr. Rep.</i> 2026, <i>18</i>, 14. [PDF]

Pediatr Rep
Tummolo A, Ponzi E, Simonetti S, Gentile M.   +3 more
europepmc   +1 more source