[HTML][HTML] Mitochondrial dysfunction: A hidden trigger of autism?

V Balachandar, K Rajagopalan, K Jayaramayya… - Genes & diseases, 2021 - Elsevier
Autism is a heterogeneous neurodevelopmental and neuropsychiatric disorder with no
precise etiology. Deficits in cognitive functions uncover at early stages and are known to …

Copy number variations in endometrial cancer: from biological significance to clinical utility

E Dugo, F Piva, M Giulietti, L Giannella… - International Journal of …, 2024 - Elsevier
The molecular basis of endometrial cancer, which is the most common malignancy of the
female reproductive organs, relies not only on onset of mutations but also on copy number …

Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array

J Liu, L Zhang, L Xu, H Ren, J Lu, X Zhang, S Zhang… - BMC genomics, 2013 - Springer
Background In recent years, genome-wide association studies have successfully uncovered
single-nucleotide polymorphisms (SNPs) associated with complex traits such as diseases …

Population-genetic properties of differentiated copy number variations in cattle

L Xu, Y Hou, DM Bickhart, Y Zhou, EHA Hay, J Song… - Scientific reports, 2016 - nature.com
While single nucleotide polymorphism (SNP) is typically the variant of choice for population
genetics, copy number variation (CNV) which comprises insertion, deletion and duplication …

A 3.4-kb copy-number deletion near EPAS1 is significantly enriched in high-altitude Tibetans but absent from the Denisovan sequence

H Lou, Y Lu, D Lu, R Fu, X Wang, Q Feng, S Wu… - The American Journal of …, 2015 - cell.com
Tibetan high-altitude adaptation (HAA) has been studied extensively, and many candidate
genes have been reported. Subsequent efforts targeting HAA functional variants, however …

Copy number variation in Han Chinese individuals with autism spectrum disorder

MJ Gazzellone, X Zhou, AC Lionel, M Uddin… - Journal of …, 2014 - Springer
Abstract Background Autism spectrum disorders (ASDs) are a group of neurodevelopmental
conditions with a demonstrated genetic etiology. Rare (< 1% frequency) copy number …

Hepatitis E virus prevalence among blood donors in Dali, China

P Fu, B Lin, B Wu, L Ke, T Yang, Y Du, L Cheng, Z Li… - Virology Journal, 2021 - Springer
Abstract Background Hepatitis E virus (HEV) is a nonenveloped RNA virus causing hepatitis
E worldwide. The increase in transfusion-transmitted cases of HEV infections from …

The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia

L Deng, BP Hoh, D Lu, R Fu, ME Phipps, S Li… - Human genetics, 2014 - Springer
Peninsular Malaysia is a strategic region which might have played an important role in the
initial peopling and subsequent human migrations in Asia. However, the genetic diversity …

Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity

L Romdhane, S Kefi, N Mezzi, N Abassi, H Jmel… - Scientific Reports, 2024 - nature.com
Admixture map** has been useful in identifying genetic variations linked to phenotypes,
adaptation and diseases. Copy number variations (CNVs) represents genomic structural …

Characterising private and shared signatures of positive selection in 37 Asian populations

X Liu, D Lu, WY Saw, PJ Shaw… - European Journal of …, 2017 - nature.com
Abstract The Asian Diversity Project (ADP) assembled 37 cosmopolitan and ethnic minority
populations in Asia that have been densely genotyped across over half a million markers to …