Genetic basis of polycystic ovary syndrome (PCOS): current perspectives

MJ Khan, A Ullah, S Basit - The application of clinical genetics, 2019 - Taylor & Francis
Polycystic ovary syndrome (PCOS) is a common infertility disorder affecting a significant
proportion of the global population. It is the main cause of anovulatory infertility in women …

[PDF][PDF] The genetics of transcription factor DNA binding variation

B Deplancke, D Alpern, V Gardeux - Cell, 2016 - cell.com
Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …

The developmental biology of genetic Notch disorders

J Mašek, ER Andersson - Development, 2017 - journals.biologists.com
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not
surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of …

Transversions have larger regulatory effects than transitions

C Guo, IC McDowell, M Nodzenski, DM Scholtens… - Bmc Genomics, 2017 - Springer
Abstract Background Transversions (Tv's) are more likely to alter the amino acid sequence
of proteins than transitions (Ts's), and local deviations in the Ts: Tv ratio are indicative of …

Alu insertion variants alter gene transcript levels

LM Payer, JP Steranka, MS Kryatova, G Grillo… - Genome …, 2021 - genome.cshlp.org
Alu are high copy number interspersed repeats that have accumulated near genes during
primate and human evolution. They are a pervasive source of structural variation in modern …

Genetics of gestational diabetes mellitus and maternal metabolism

WL Lowe, DM Scholtens, V Sandler, MG Hayes - Current diabetes reports, 2016 - Springer
Gestational diabetes mellitus (GDM) is defined as abnormal glucose tolerance with onset or
first recognition during pregnancy. Women with a history of GDM are at long-term risk for …

Epigenetics in epilepsy

K Kobow, I Blümcke - Neuroscience letters, 2018 - Elsevier
Approximately 50 million people have epilepsy, making it the most common chronic and
severe neurological disease worldwide, with increased risk of mortality and psychological …

Polycystic ovarian syndrome: a complex disease with a genetics approach

H Nautiyal, SS Imam, S Alshehri, MM Ghoneim, M Afzal… - Biomedicines, 2022 - mdpi.com
Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting females in
their reproductive age. The early diagnosis of PCOS is complicated and complex due to …

Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities

T Fadason, W Schierding, T Lumley… - Nature …, 2018 - nature.com
Clinical studies of non-communicable diseases identify multimorbidities that suggest a
common set of predisposing factors. Despite the fact that humans have~ 24,000 genes, we …

Genomics of human aggression: current state of genome-wide studies and an automated systematic review tool

VV Odintsova, PJ Roetman, HF Ip, R Pool… - Psychiatric …, 2019 - journals.lww.com
There are substantial differences, or variation, between humans in aggression, with its
molecular genetic basis mostly unknown. This review summarizes knowledge on the genetic …