[HTML][HTML] Genetic differences among ethnic groups

T Huang, Y Shu, YD Cai - BMC genomics, 2015 - Springer
Background Many differences between different ethnic groups have been observed, such as
skin color, eye color, height, susceptibility to some diseases, and response to certain drugs …

Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type …

PO Simsek‐Kiper, P Jacob, P Upadhyai… - Human …, 2022 - Wiley Online Library
Spondylo‐epi‐metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic
skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic …

Detection and classification of hard and soft sweeps from unphased genotypes by multilocus genotype identity

AM Harris, NR Garud, M DeGiorgio - Genetics, 2018 - academic.oup.com
Positive natural selection can lead to a decrease in genomic diversity at the selected site
and at linked sites, producing a characteristic signature of elevated expected haplotype …

Whole‐genome sequencing of cytogenetically balanced chromosome translocations identifies potentially pathological gene disruptions and highlights the importance …

D Nilsson, M Pettersson, P Gustavsson… - Human …, 2017 - Wiley Online Library
Most balanced translocations are thought to result mechanistically from nonhomologous end
joining or, in rare cases of recurrent events, by nonallelic homologous recombination. Here …

Regulation of dendrite growth and maintenance by exocytosis

Y Peng, J Lee, K Rowland, Y Wen, H Hua… - Journal of cell …, 2015 - journals.biologists.com
Dendrites lengthen by several orders of magnitude during neuronal development, but how
membrane is allocated in dendrites to facilitate this growth remains unclear. Here, we report …

[HTML][HTML] Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

D Hollenbeck, CL Williams, K Drazba, M Descartes… - Genetics in …, 2017 - Elsevier
Purpose The 2010 consensus statement on diagnostic chromosomal microarray (CMA)
testing recommended an array resolution≥ 400 kb throughout the genome as a balance of …

Identifying and classifying shared selective sweeps from multilocus data

AM Harris, M DeGiorgio - Genetics, 2020 - academic.oup.com
Positive selection causes beneficial alleles to rise to high frequency, resulting in a selective
sweep of the diversity surrounding the selected sites. Accordingly, the signature of a …

[HTML][HTML] A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

KM Girisha, F Kortüm, H Shah, M Alawi… - European Journal of …, 2016 - nature.com
We report two brothers from a consanguineous couple with spondyloepimetaphyseal
dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile …

Circulating Endothelial Progenitor Cells Reduce the Risk of Alzheimer's Disease

Y Wang, J Huang, TFA Ang, Y Zhu, Q Tao, J Mez… - medRxiv, 2023 - medrxiv.org
Cerebrovascular damage coexists with Alzheimer's disease (AD) pathology and increases
AD risk. However, it is unclear whether endothelial progenitor cells reduce AD risk via …

Negative parenting modulates the association between mother's DNA methylation profiles and adult offspring depression

S Hein, T Thomas, O Yu. Naumova… - Developmental …, 2019 - Wiley Online Library
This study aimed to examine whether the relationship between mothers' DNA methylation
profiles and offspring's depression is modulated by negative parenting. The participants …