Associated Papers
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
Turkyilmaz A et al.
Clinical Genetics, 2025
Catalytic mechanism of trans-2-enoyl-CoA reductases in the fatty acid elongation cycle and its cooperative action with fatty acid elongases.
Kato R et al.
The Journal of Biological Chemistry, 2024
Individual with Homozygous TECR Variant Expands Upon the Existing Phenotype for a Hutterite Founder Mutation.
Platt D et al.
South Dakota Medicine : the Journal of the South Dakota State Medical Association, 2022
trans-2-Enoyl-CoA Reductase Tecr-Driven Lipid Metabolism in Endothelial Cells Protects against Transcytosis to Maintain Blood-Brain Barrier Homeostasis.
Wang J et al.
Research (washington, D.c.), 2022
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Khan MA et al.
Annals of Human Genetics, 2016
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 2016
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 2015
An estimate of the average number of recessive lethal mutations carried by humans.
Gao Z et al.
Genetics, 2015
Metabolism of very long-chain Fatty acids: genes and pathophysiology.
Sassa T et al.
Biomolecules & Therapeutics, 2014
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
The promise of whole-exome sequencing in medical genetics.
Rabbani B et al.
Journal of Human Genetics, 2014
Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.
Abe K et al.
The Journal of Biological Chemistry, 2013
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX et al.
American Journal of Human Genetics, 2012
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Çalışkan M et al.
Human Molecular Genetics, 2011
Trans-2-enoyl-CoA reductase limits Ca2+ accumulation in the endoplasmic reticulum by inhibiting the Ca2+ pump SERCA2b.
Uchida Y et al.
The Journal of Biological Chemistry, 0