scholarly journals ExAC project pins down rare gene variants

Nature ◽  
2016 ◽  
Vol 536 (7616) ◽  
pp. 249-249 ◽  
Keyword(s):  
Gene Variants ◽  
Rare Gene

Hippocampal metabolite concentrations in schizophrenia vary in association with rare gene variants in the TRIO gene

2020 ◽  
Vol 224 ◽  
pp. 167-169
Author(s):  
Dolores Malaspina ◽  
Oded Gonen ◽  
Haley Rhodes ◽  
Kevin W. Hoffman ◽  
Adriana Heguy ◽  
...  
Keyword(s):  
Gene Variants ◽  
Metabolite Concentrations ◽  
Rare Gene

scholarly journals Not-so-rare gene variants

Nature ◽  
2012 ◽  
Vol 485 (7399) ◽  
pp. 418-418
Keyword(s):  
Gene Variants ◽  
Rare Gene

scholarly journals Transcriptional regulation of neonatal neural stem cells is a determinant of social behavior

2021 ◽  
Author(s):  
Takeshi Hiramoto ◽  
Shuken Boku ◽  
Gina Kang ◽  
Seiji Abe ◽  
Mariel Barbachan e Silva ◽  
...  
Keyword(s):  
Social Behavior ◽  
Neurodevelopmental Disorders ◽  
Time Window ◽  
Copy Number Variant ◽  
Social Dimension ◽  
Gene Variants ◽  
Neural Stem Progenitor Cells ◽  
Rare Gene ◽  
Mechanistic Basis ◽  
High Level

Rare gene variants confer a high level of penetrance to neurodevelopmental disorders, but their developmental origin and cellular substrates remain poorly understood. To address this limitation, we explored the role of TBX1, a gene encoded in a rare copy number variant, in cell and mouse models. Here, we report that neonatal Tbx1 deficiency contributes to defective peripubertal social behavior and impairs the proliferation of neonatal neural stem/progenitor cells. Moreover, TBX1 transcriptionally regulates genes linked to post-embryonic neurogenesis and neurodevelopmental disorders associated with other rare gene variants. Our data indicate a precise time window and cell type through which the social dimension is altered by a gene encoded in a rare CNV and provide a potential common mechanistic basis for a group of neurodevelopmental disorders.

scholarly journals Rare gene variants in a patient with azathioprine-induced lethal myelosuppression

2017 ◽  
Vol 96 (12) ◽  
pp. 2131-2133 ◽  
Author(s):  
Xiaoxue Yang ◽  
Heng Xu ◽  
Jun Yang ◽  
Li Yang
Keyword(s):  
Gene Variants ◽  
Rare Gene
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