Varaico: Literature-Extracted Genetic Variants

Gene:KL
Variant:p.H193R
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KL

NM_004795.4:p.H193R

Associated Papers

Advances in understanding of phosphate homeostasis and related disorders.

Michigami T

Endocrine Journal, 2022

Loss of αklotho causes reduced motor ability and short lifespan in zebrafish.

Ogura Y et al.

Scientific Reports, 2021

A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway.

Martín-Núñez E et al.

Journal of Clinical Medicine, 2019

Phosphate homeostasis disorders.

Christov M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2018

Targeted inhibition of Klotho binding to fibroblast growth factor 23 prevents hypophosphetemia.

Fakhar M et al.

Journal of Molecular Graphics & Modelling, 2017

The FGF23/Klotho axis in the regulation of mineral and metabolic homeostasis.

Kawai M

Hormone Molecular Biology and Clinical Investigation, 2016

N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.

Esapa CT et al.

Plos One, 2015

Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.

White KE et al.

Current Osteoporosis Reports, 2014

Biochemical and functional characterization of the klotho-VS polymorphism implicated in aging and disease risk.

Tucker Zhou TB et al.

The Journal of Biological Chemistry, 2013

A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.

Esapa CT et al.

Plos One, 2012

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Farrow EG et al.

Best Practice & Research. Clinical Rheumatology, 2011

[Regulation of calcium homeostasis by α-Klotho and FGF23].

Nabeshima Y

Clinical Calcium, 2010

Overview of the FGF23-Klotho axis.

Kuro-o M

Pediatric Nephrology (berlin, Germany), 2010

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Ichikawa S et al.

American Journal of Medical Genetics. Part A, 2010

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Chefetz I et al.

Biochimica Et Biophysica Acta, 2009

[Discovery of alpha-Klotho and FGF23 unveiled new insight into calcium and phosphate homeostasis].

Nabeshima Y

Clinical Calcium, 2008

Klotho as a regulator of oxidative stress and senescence.

Kuro-o M

Biological Chemistry, 2008

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Ichikawa S et al.

The Journal of Clinical Investigation, 2007

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Ichikawa S et al.

Journal of Musculoskeletal & Neuronal Interactions, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."