Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat-Reference-Cited by-同舟云学术

Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat

Published:2024-01-01 Issue:1 Volume:56 Page:65-73
ISSN:1094-8341
Container-title:Physiological Genomics
language:en
Short-container-title:Physiological Genomics

Author:

Šilhavý Jan¹,Mlejnek Petr¹,Šimáková Miroslava¹,Liška František¹²^ORCID,Malínská Hana³,Marková Irena³,Hüttl Martina³,Miklánková Denisa³,Mušálková Dita⁴,Stránecký Viktor⁴,Kmoch Stanislav⁴,Sticová Eva³⁵,Vrbacký Marek¹,Mráček Tomáš¹^ORCID,Pravenec Michal¹²^ORCID

Affiliation:

1. Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic

2. Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic

3. Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic

4. Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic

5. Department of Pathology, Third Faculty of Medicine, Charles University, Prague, Czech Republic

Abstract

A new spontaneous mutation, abnormal hair appearance in the rat, has been identified as a nonfunctional tuftelin 1 ( Tuft1) gene. The pleiotropic effects of this mutation regulate glucose and lipid metabolism. Analysis of the liver proteome revealed possible molecular mechanisms for the metabolic effects of the Tuft1 gene.

Funder

National Institute for Metabolic and Cardiovascular Disease Research

Ministry of Education, Youth, and Sports of the Czech Republic

Czech Science Foundation

Publisher

American Physiological Society

Subject

Genetics,Physiology

Link

https://journals.physiology.org/doi/pdf/10.1152/physiolgenomics.00084.2023

Reference16 articles.

1. An analysis of spontaneous hypertension in spontaneously hypertensive rats by means of new recombinant inbred strains

2. Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease

3. Deletion of a conserved noncoding sequence inPlzfintron leads toPlzfdown-regulation in limb bud and polydactyly in the rat

4. In a Prediabetic Model, Empagliflozin Improves Hepatic Lipid Metabolism Independently of Obesity and before Onset of Hyperglycemia

5. Solvent Precipitation SP3 (SP4) Enhances Recovery for Proteomics Sample Preparation without Magnetic Beads

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data;2023-12-21