Sequence analysis of a deleted mitochondrial DNA molecule in heteroplasmic mice

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

European journal of neurology·2018

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Revue neurologique·2016

Myofibrillar myopathies: State of the art, present and future challenges.

Revue neurologique·2015

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Journal of neurology, neurosurgery, and psychiatry·2014

Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations.

European journal of neurology·2013

Home-loving boreal hare mitochondria survived several invasions in Iberia: the relative roles of recurrent hybridisation and allele surfing.

Heredity·2013

Genome-wide characterization of copy number variations in Nagami Mithun (Bos frontalis) using whole-genome resequencing.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

ZDHHC5 may regulate the function of NKT cells and the immune response in Meniere's disease.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Screening for candidate genes and cell populations associated with atherosclerotic calcification using single-cell RNA sequencing.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Multi-omics analysis of HLTF context-dependent regulation across TCGA cohorts revealed its potential as new biomarker in tumour.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

The future objectives of the International Mouse Phenotyping Consortium (IMPC): functional evaluation of human disease-relevant cis-regulatory elements in the mouse genome.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Identification of Two Novel HLA-A Alleles by Next-Generation Sequencing: HLA-A01:516 and HLA-A03:538.

HLA·2026

Adaptive variation in butyrylcholinesterase-influenced lipid metabolism during horse domestication.

Cell reports·2026

Brain circadian clock neurons drive fitness advantages in Drosophila.

iScience·2026

Effects of genotype and exercise on hepatic gene expression in phenotype-selected marathon mice.

Scientific data·2026

From fathers to forebears: Benchmarking Y-chromosomal short tandem repeat haplogroup predictors for forensic paternal lineage inference.

Forensic science international. Genetics·2026

Related Experiment Videos

Sequence analysis of a deleted mitochondrial DNA molecule in heteroplasmic mice

Related Concept Videos

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Myofibrillar myopathies: State of the art, present and future challenges.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations.

Home-loving boreal hare mitochondria survived several invasions in Iberia: the relative roles of recurrent hybridisation and allele surfing.

Genome-wide characterization of copy number variations in Nagami Mithun (Bos frontalis) using whole-genome resequencing.

ZDHHC5 may regulate the function of NKT cells and the immune response in Meniere's disease.

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Screening for candidate genes and cell populations associated with atherosclerotic calcification using single-cell RNA sequencing.

Multi-omics analysis of HLTF context-dependent regulation across TCGA cohorts revealed its potential as new biomarker in tumour.

The future objectives of the International Mouse Phenotyping Consortium (IMPC): functional evaluation of human disease-relevant cis-regulatory elements in the mouse genome.

Identification of Two Novel HLA-A Alleles by Next-Generation Sequencing: HLA-A01:516 and HLA-A03:538.

Adaptive variation in butyrylcholinesterase-influenced lipid metabolism during horse domestication.

Brain circadian clock neurons drive fitness advantages in Drosophila.

Effects of genotype and exercise on hepatic gene expression in phenotype-selected marathon mice.

From fathers to forebears: Benchmarking Y-chromosomal short tandem repeat haplogroup predictors for forensic paternal lineage inference.

Related Experiment Videos

Sequence analysis of a deleted mitochondrial DNA molecule in heteroplasmic mice

Related Concept Videos

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