Concept

Exome

Related publications (31)

Molecular codes and in vitro generation of hypocretin and melanin concentrating hormone neurons

Sha Li, Hasan Pezeshgi Modarres, Cyril Mikhail

Hypocretin/orexin (HCRT) and melanin concentrating hormone (MCH) neuropeptides are exclusively produced by the lateral hypothalamus and play important roles in sleep, metabolism, reward, and motivation. Loss of HCRT (ligands or receptors) causes the sleep ...

PNAS2019

Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data

Philipp Bucher, Alexandre Coudray

To detect functional somatic mutations in tumor samples, whole-exome sequencing (WES) is often used for its reliability and relative low cost. RNA-seq, while generally used to measure gene expression, can potentially also be used for identification of soma ...

2018

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Johan Auwerx, Laurent Mouchiroud, Richardus Houtkooper

Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochond ...

Oxford Univ Press2017

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

Membrane transporters influence biological functions in the ocular lens. Here, we investigate the monocarboxylate transporter 12 (MCT12), also called creatine transporter 2 (CRT2), which is found in the ocular lens and is involved in cataract. As the age-r ...

Oxford Univ Press2017

Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis

Jacques Fellay, Istvan Bartha, Samira Asgari, Christoph Berger, Richard Wong

One out of three pediatric sepsis deaths in high income countries occur in previously healthy children. Primary immunodeficiencies (PIDs) have been postulated to underlie fulminant sepsis, but this concept remains to be confirmed in clinical practice. Pseu ...

Frontiers Media Sa2016

Identifying mutations in Tunisian families with retinal dystrophy

Imen Habibi

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...

Nature Publishing Group2016

Extensive Regulation of Diurnal Transcription and Metabolism by Glucocorticoids

Cédric Gobet, Frédéric Bruno Martin Gachon, Benjamin Dieter Weger, Meltem Weger

Altered daily patterns of hormone action are suspected to contribute to metabolic disease. It is poorly understood how the adrenal glucocorticoid hormones contribute to the coordination of daily global patterns of transcription and metabolism. Here, we exa ...

Public Library Science2016

Evolutionary dynamics of coding and non-coding transcriptomes

Anamaria Necsulea

Gene expression changes may underlie much of phenotypic evolution. The development of high-throughput RNA sequencing protocols has opened the door to unprecedented large-scale and cross-species transcriptome comparisons by allowing accurate and sensitive a ...

Nature Publishing Group2014

Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

Jacques Fellay, Amalio Telenti, Istvan Bartha, Ioannis Xenarios

Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies. Recent resequencing projects report that stop-gains and frameshifts are collectively prevalent in humans and could be resp ...

Public Library Science2014

Linking toxicity and adaptive responses across the transcriptome, proteome, and phenotype of Chlamydomonas reinhardtii exposed to silver

Kristin Schirmer, Laura Sigg, Renata Behra

Understanding mechanistic and cellular events underlying a toxicological outcome allows the prediction of impact of environmental stressors to organisms living in different habitats. A systems-based approach aids in characterizing molecular events, and the ...

Natl Acad Sciences2014

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