[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 …
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 …
Spondylo‐epi‐metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic
skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic …
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 …
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 …
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 …
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 …
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 …
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 …
dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile …
Circulating Endothelial Progenitor Cells Reduce the Risk of Alzheimer's Disease
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 …
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 …
profiles and offspring's depression is modulated by negative parenting. The participants …