The role of the anti-ageing protein Klotho in vascular physiology and pathophysiology

R Mencke, JL Hillebrands, NIGRAM consortium - Ageing research reviews, 2017 - Elsevier
Klotho is an anti-ageing protein that functions in many pathways that govern ageing, like
regulation of phosphate homeostasis, insulin signaling, and Wnt signaling. Klotho …

High-throughput mouse phenomics for characterizing mammalian gene function

SDM Brown, CC Holmes, AM Mallon… - Nature Reviews …, 2018 - nature.com
We are entering a new era of mouse phenomics, driven by large-scale and economical
generation of mouse mutants coupled with increasingly sophisticated and comprehensive …

[HTML][HTML] Human alternative Klotho mRNA is a nonsense-mediated mRNA decay target inefficiently spliced in renal disease

R Mencke, G Harms, J Moser, M van Meurs… - JCI insight, 2017 - ncbi.nlm.nih.gov
Klotho is a renal protein involved in phosphate homeostasis, which is downregulated in
renal disease. It has long been considered an antiaging factor. Two Klotho gene transcripts …

The relevance of α-KLOTHO to the central nervous system: some key questions

MM Cararo-Lopes, CHY Mazucanti, C Scavone… - Ageing research …, 2017 - Elsevier
Abstract α-Klotho is well described as an anti-aging protein, with critical roles in kidney
function as a transmembrane co-receptor for FGF23, and as a soluble factor in serum. α …

[HTML][HTML] Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

CM Gorvin, FM Hannan, SA Howles, VN Babinsky… - JCI insight, 2017 - ncbi.nlm.nih.gov
Heterozygous germline gain-of-function mutations of G-protein subunit α 11 (Gα 11), a
signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant …

Endocrine regulation of phosphate homeostasis

RB Brown, MS Razzaque - Textbook of Nephro-Endocrinology, 2018 - Elsevier
Phosphate, a component of nucleic acids, DNA and RNA, is incorporated in the structure of
phospholipids in cell membranes, and is involved in many biological functions such as cell …

[HTML][HTML] Mouse models and online resources for functional analysis of osteoporosis genome-wide association studies

RD Maynard, CL Ackert-Bicknell - Frontiers in Endocrinology, 2019 - frontiersin.org
Osteoporosis is a complex genetic disease in which the number of loci associated with the
bone mineral density, a clinical risk factor for fracture, has increased at an exponential rate …

N ethyl N nitrosourea–Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss of Function Mice

CM Gorvin, A Rogers, M Stewart… - Journal of Bone and …, 2017 - academic.oup.com
The adaptor protein 2 sigma subunit (AP2σ), encoded by AP2S1, forms a heterotetrameric
complex, with AP2α, AP2β, and AP2μ subunits, that is pivotal for clathrin mediated …

[HTML][HTML] Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation

SA Howles, FM Hannan, CM Gorvin, SE Piret… - JCI insight, 2017 - ncbi.nlm.nih.gov
Loss-of-function mutations of GNA11, which encodes G-protein subunit α 11 (Gα 11), a
signaling partner for the calcium-sensing receptor (CaSR), result in familial hypocalciuric …

[HTML][HTML] Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated …

CT Esapa, SE Piret, MA Nesbit, NY Loh, G Thomas… - PLoS …, 2016 - journals.plos.org
Non-syndromic kyphosis is a common disorder that is associated with significant morbidity
and has a strong genetic involvement; however, the causative genes remain to be identified …