Cargando…

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

Hyperphosphatemia is commonly present in end-stage renal disease. Klotho (KL) is implicated in phosphate homeostasis since it acts as obligate co-receptor for the fibroblast growth factor 23 (FGF23), a major phosphaturic hormone. We hypothesized that genetic variation in the KL gene might be associa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Martín-Núñez, Ernesto, Donate-Correa, Javier, Kannengiesser, Caroline, De Brauwere, David-Paul, Leroy, Christine, Oudin, Claire, Friedlander, Gérard, Prieto-Morín, Carol, Tagua, Víctor G., Ureña-Torres, Pablo A., Navarro-González, Juan F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517886/ https://www.ncbi.nlm.nih.gov/pubmed/31013726 http://dx.doi.org/10.3390/jcm8040500

Ejemplares similares

FGF23 and Klotho Levels are Independently Associated with Diabetic Foot Syndrome in Type 2 Diabetes Mellitus
por: Donate-Correa, Javier, et al.
Publicado: (2019)

Pathophysiological Implications of Imbalances in Fibroblast Growth Factor 23 in the Development of Diabetes
por: Donate-Correa, Javier, et al.
Publicado: (2021)

Association between serum levels of Klotho and inflammatory cytokines in cardiovascular disease: a case-control study
por: Martín-Núñez, Ernesto, et al.
Publicado: (2020)

Klotho as a biomarker of subclinical atherosclerosis in patients with moderate to severe chronic kidney disease
por: Donate-Correa, Javier, et al.
Publicado: (2021)

Fibroblast growth factor 23, klotho and heparin
por: Thomas, S. Madison, et al.
Publicado: (2023)

Influence of Klotho gene polymorphisms on vascular gene expression and its relationship to cardiovascular disease
por: Donate‐Correa, Javier, et al.
Publicado: (2015)

Association of Klotho with Coronary Artery Disease in Subjects with Type 2 Diabetes Mellitus and Preserved Kidney Function: A Case-Control Study
por: Donate-Correa, Javier, et al.
Publicado: (2023)

Fibroblast growth factor 23 expression in human calcified vascular tissues
por: Donate-Correa, Javier, et al.
Publicado: (2019)

Hearing analysis in heterozygous and homozygous klotho gene deficient mice
por: Yuan, Na, et al.
Publicado: (2018)

Klotho expression in peripheral blood circulating cells is associated with vascular and systemic inflammation in atherosclerotic vascular disease
por: Martín-Núñez, Ernesto, et al.
Publicado: (2022)

Role of Fibroblast Growth Factor 23 (FGF23) and αKlotho in Cancer
por: Ewendt, Franz, et al.
Publicado: (2021)

Pentoxifylline for Renal Protection in Diabetic Kidney Disease. A Model of Old Drugs for New Horizons
por: Donate-Correa, Javier, et al.
Publicado: (2019)

Klotho inversely relates with carotid intima- media thickness in atherosclerotic patients with normal renal function (eGFR ≥60 mL/min/1.73m(2)): a proof-of-concept study
por: Donate-Correa, Javier, et al.
Publicado: (2023)

Klotho, Oxidative Stress, and Mitochondrial Damage in Kidney Disease
por: Donate-Correa, Javier, et al.
Publicado: (2023)

Fibroblast growth factor 23—Klotho and hypertension: experimental and clinical mechanisms
por: Freundlich, Michael, et al.
Publicado: (2020)

α-Klotho's effects on mineral homeostasis are fibroblast growth factor-23 dependent
por: Erben, Reinhold G.
Publicado: (2018)

FGF23 Actions on Target Tissues—With and Without Klotho
por: Richter, Beatrice, et al.
Publicado: (2018)

The effect of nephrectomy on Klotho, FGF-23 and bone metabolism
por: Kakareko, Katarzyna, et al.
Publicado: (2017)

FGF-23, Klotho and Vitamin D Levels in Scleroderma
por: AHMADI, Ravan, et al.
Publicado: (2017)

Parathyroid-Specific Deletion of Klotho Unravels a Novel Calcineurin-Dependent FGF23 Signaling Pathway That Regulates PTH Secretion
por: Olauson, Hannes, et al.
Publicado: (2013)

Changes in Fibroblast Growth Factor 23 and Soluble Klotho Levels After Hemodialysis Initiation
por: Kawabata, Chiaki, et al.
Publicado: (2019)

Is there a role in acute kidney injury for FGF23 and Klotho?
por: Mattinzoli, Deborah, et al.
Publicado: (2023)

Hops/Tmub1 Heterozygous Mouse Shows Haploinsufficiency Effect in Influencing p53-Mediated Apoptosis
por: Ferracchiato, Simona, et al.
Publicado: (2021)

Significant roles of anti-aging protein klotho and fibroblast growth factor23 in cardiovascular disease
por: Ding, Hong-Ying, et al.
Publicado: (2015)

Clinical Potential of Targeting Fibroblast Growth Factor‐23 and αKlotho in the Treatment of Uremic Cardiomyopathy
por: Law, Jonathan P., et al.
Publicado: (2020)

Fibroblast Growth Factor-23-Klotho Axis in Cardiorenal Syndrome: Mediators and Potential Therapeutic Targets
por: Navarro-García, José Alberto, et al.
Publicado: (2021)

Deep multiple-instance learning accurately predicts gene haploinsufficiency and deletion pathogenicity
por: Liu, Zhihan, et al.
Publicado: (2023)

Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation
por: Peri, Suraj, et al.
Publicado: (2016)

Heterozygous eNOS Deficient Mice as a Model to Examine the Effects of eNOS Haploinsufficiency on the Cerebral Circulation
por: Didion, Sean P.
Publicado: (2017)

Inflammatory Targets in Diabetic Nephropathy
por: Donate-Correa, Javier, et al.
Publicado: (2020)

Arterial Klotho Expression and FGF23 Effects on Vascular Calcification and Function
por: Lindberg, Karolina, et al.
Publicado: (2013)

Editorial: Endocrine and Paracrine Role of FGF23 and Klotho in Health and Disease
por: Erben, Reinhold G.
Publicado: (2019)

Deletion of PTH Rescues Skeletal Abnormalities and High Osteopontin Levels in Klotho (−/−) Mice
por: Yuan, Quan, et al.
Publicado: (2012)

Ectopic expression of Klotho in fibroblast growth factor 23 (FGF23)-producing tumors that cause tumor-induced rickets/osteomalacia (TIO)
por: Kinoshita, Yuka, et al.
Publicado: (2018)

Correction to: Clinical Potential of Targeting Fibroblast Growth Factor‐23 and αKlotho in the Treatment of Uremic Cardiomyopathy
Publicado: (2020)

Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?
por: Bing, Hao, et al.
Publicado: (2022)

Re-visiting the Protamine-2 locus: deletion, but not haploinsufficiency, renders male mice infertile
por: Schneider, Simon, et al.
Publicado: (2016)

Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms
por: Tripodi, Joseph, et al.
Publicado: (2010)

Direct, Acute Effects of Klotho and FGF23 on Vascular Smooth Muscle and Endothelium
por: Six, Isabelle, et al.
Publicado: (2014)

Molecular Mechanisms Underlying Accelerated Aging by Defects in the FGF23-Klotho System
por: Kuro-o, Makoto
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_959rsr4ub8c6mc99tgl6vvled6