Mutations in G protein–coupled receptors: mechanisms, pathophysiology and potential therapeutic approaches

T Schöneberg, I Liebscher - Pharmacological reviews, 2021 - ASPET
There are approximately 800 annotated G protein–coupled receptor (GPCR) genes, making
these membrane receptors members of the most abundant gene family in the human …

[HTML][HTML] Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

S Heyes, WS Pratt, E Rees, S Dahimene, L Ferron… - Progress in …, 2015 - Elsevier
This review summarises genetic studies in which calcium channel genes have been
connected to the spectrum of neuropsychiatric syndromes, from bipolar disorder and …

The crucial role of genome-wide genetic variation in conservation

M Kardos, EE Armstrong… - Proceedings of the …, 2021 - National Acad Sciences
The unprecedented rate of extinction calls for efficient use of genetics to help conserve
biodiversity. Several recent genomic and simulation-based studies have argued that the …

The critically endangered vaquita is not doomed to extinction by inbreeding depression

JA Robinson, CC Kyriazis, SF Nigenda-Morales… - Science, 2022 - science.org
In cases of severe wildlife population decline, a key question is whether recovery efforts will
be impeded by genetic factors, such as inbreeding depression. Decades of excess mortality …

Genomic signatures of extensive inbreeding in Isle Royale wolves, a population on the threshold of extinction

JA Robinson, J Räikkönen, LM Vucetich… - Science …, 2019 - science.org
The observation that small isolated populations often suffer reduced fitness from inbreeding
depression has guided conservation theory and practice for decades. However …

Health and population effects of rare gene knockouts in adult humans with related parents

VM Narasimhan, KA Hunt, D Mason, CL Baker… - Science, 2016 - science.org
Examining complete gene knockouts within a viable organism can inform on gene function.
We sequenced the exomes of 3222 British adults of Pakistani heritage with high parental …

Distance from sub-Saharan Africa predicts mutational load in diverse human genomes

BM Henn, LR Botigué, S Peischl… - Proceedings of the …, 2016 - National Acad Sciences
The Out-of-Africa (OOA) dispersal∼ 50,000 y ago is characterized by a series of founder
events as modern humans expanded into multiple continents. Population genetics theory …

Model organisms facilitate rare disease diagnosis and therapeutic research

MF Wangler, S Yamamoto, HT Chao, JE Posey… - Genetics, 2017 - academic.oup.com
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …

Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes

EGM Reynolds, C Neeley, TJ Lopdell, M Keehan… - Nature Genetics, 2021 - nature.com
Mammalian species carry~ 100 loss-of-function variants per individual,, where~ 1–5 of these
impact essential genes and cause embryonic lethality or severe disease when homozygous …

[HTML][HTML] Next-generation drug repurposing using human genetics and network biology

S Nabirotchkin, AE Peluffo, P Rinaudo, J Yu… - Current Opinion in …, 2020 - Elsevier
Drug repurposing has attracted increased attention, especially in the context of drug
discovery rates that remain too low despite a recent wave of approvals for biological …