Structure, function, and pharmacology of glutamate receptor ion channels

KB Hansen, LP Wollmuth, D Bowie, H Furukawa… - Pharmacological …, 2021 - Elsevier
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …

Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity

M Pigeyre, FT Yazdi, Y Kaur, D Meyre - Clinical science, 2016 - portlandpress.com
In high-, middle-and low-income countries, the rising prevalence of obesity is the underlying
cause of numerous health complications and increased mortality. Being a complex and …

A systematic review of genetic syndromes with obesity

Y Kaur, RJ De Souza, WT Gibson, D Meyre - Obesity Reviews, 2017 - Wiley Online Library
Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

Obesity genetics in mouse and human: back and forth, and back again

FT Yazdi, SM Clee, D Meyre - PeerJ, 2015 - peerj.com
Obesity is a major public health concern. This condition results from a constant and complex
interplay between predisposing genes and environmental stimuli. Current attempts to …

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives… - PLoS …, 2011 - journals.plos.org
While numerous studies have implicated copy number variants (CNVs) in a range of
neurological phenotypes, the impact relative to disease severity has been difficult to …

[HTML][HTML] Prader-willi syndrome

DJ Driscoll, JL Miller, S Schwartz, SB Cassidy - 2017 - europepmc.org
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in
early infancy, followed in later infancy or early childhood by excessive eating and gradual …

The genetics of human obesity

J Waalen - Translational Research, 2014 - Elsevier
The heritability of obesity has long been appreciated and the genetics of obesity has been
the focus of intensive study for decades. Early studies elucidating genetic factors involved in …

[HTML][HTML] Genetics of Prader-Willi syndrome and Prader-Will-like syndrome

CK Cheon - Annals of pediatric endocrinology & metabolism, 2016 - ncbi.nlm.nih.gov
Abstract The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from
genomic alterations that inactivate imprinted, paternally expressed genes in human …

Transcriptional regulators of ecdysteroid biosynthetic enzymes and their roles in insect development

T Kamiyama, R Niwa - Frontiers in Physiology, 2022 - frontiersin.org
Steroid hormones are responsible for coordinating many aspects of biological processes in
most multicellular organisms, including insects. Ecdysteroid, the principal insect steroid …

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features

A Bonnefond, A Raimondo… - The Journal of …, 2013 - Am Soc Clin Investig
Sim1 haploinsufficiency in mice induces hyperphagic obesity and developmental
abnormalities of the brain. In humans, abnormalities in chromosome 6q16, a region that …