| 2024-05-23 |
Mitochondrial protein synthesis quality control |
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| 2024-05-23 |
Tools for editing the mammalian mitochondrial genome |
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| 2024-05-23 |
Mitochondrial molecular genetics and human disease |
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| 2024-05-23 |
Decoding the Enigma: Translation Termination in Human Mitochondria |
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| 2024-05-23 |
The molecular machinery for maturation of primary mtDNA transcripts |
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| 2024-05-23 |
Mitochondrial DNA release and sensing in innate immune responses |
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| 2024-05-23 |
Illuminating mitochondrial translation through mouse models |
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| 2024-05-23 |
Coordinating mitochondrial translation with assembly of the OXPHOS complexes |
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| 2024-05-23 |
RNA degradation in human mitochondria: the journey is not finished |
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| 2024-05-23 |
Molecular and cellular consequences of mitochondrial DNA double-stranded breaks |
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| 2024-05-23 |
Central dogma rates in human mitochondria |
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| 2024-05-23 |
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease |
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| 2024-05-19 |
Correction to: The genetic admixture and assimilation of Ahom: a historic migrant from Thailand to India |
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| 2024-05-19 |
Correction to: Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy |
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| 2024-05-19 |
The genetic admixture and assimilation of Ahom: a historic migrant from Thailand to India |
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| 2024-05-19 |
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F |
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| 2024-05-19 |
m6A RNA methylation regulates mitochondrial function |
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| 2024-05-19 |
Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas |
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| 2024-05-19 |
Novel signals and polygenic score for height are associated with pubertal growth traits in Southwestern American Indians |
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| 2024-05-19 |
A multi-ancestry genome-wide association study in type 1 diabetes |
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| 2024-05-19 |
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases |
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| 2024-05-19 |
Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1G93A-ALS mouse model |
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| 2024-05-05 |
Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors |
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| 2024-05-05 |
Correction to: ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function |
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| 2024-05-05 |
AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1 |
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| 2024-05-05 |
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects |
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| 2024-05-05 |
The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria |
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| 2024-05-05 |
Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy |
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| 2024-05-05 |
Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses |
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| 2024-05-05 |
Pathways controlling neurotoxicity and proteostasis in mitochondrial complex I deficiency |
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| 2024-05-05 |
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria |
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| 2024-05-05 |
Identification of conserved skeletal enhancers associated with craniosynostosis risk genes |
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| 2024-04-20 |
Correction to: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model |
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| 2024-04-20 |
Correction to: Enhanced tau pathology via RanBP9 and Hsp90/Hsc70 chaperone complexes |
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| 2024-04-20 |
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity |
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| 2024-04-20 |
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity |
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| 2024-04-20 |
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts |
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| 2024-04-20 |
Deletion of a conserved genomic region associated with adolescent idiopathic scoliosis leads to vertebral rotation in mice |
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| 2024-04-20 |
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation |
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| 2024-04-20 |
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma |
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| 2024-04-08 |
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines |
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| 2024-04-08 |
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes |
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| 2024-04-08 |
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression |
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| 2024-04-08 |
Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia |
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| 2024-04-08 |
The role of alternative polyadenylation in epithelial-mesenchymal transition of non-small cell lung cancer |
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| 2024-04-08 |
Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis |
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| 2024-04-08 |
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data |
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| 2024-04-08 |
Ancestry-specific high-risk gene variant profiling unmasks diabetes-associated genes |
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| 2024-04-08 |
Adaptation of the heart to frataxin depletion: evidence that integrated stress response can predominate over mTORC1 activation |
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| 2023-06-08 |
Correction to: Parkin regulates neuronal lipid homeostasis through SREBP2-lipoprotein lipase pathway—implications for Parkinson's disease |
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| 2023-06-08 |
Correction to: SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions |
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| 2023-06-08 |
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways |
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| 2023-06-08 |
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency |
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| 2023-06-08 |
Rare genetic variants underlie outlying levels of DNA methylation and gene-expression |
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| 2023-06-08 |
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model |
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| 2023-06-08 |
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease |
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| 2023-06-08 |
Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson’s disease |
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| 2023-06-08 |
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD |
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| 2023-06-08 |
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation |
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| 2023-06-08 |
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations |
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| 2023-06-08 |
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy |
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| 2023-06-08 |
Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis |
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| 2023-06-08 |
Predicting brain-regional gene regulatory networks from multi-omics for Alzheimer’s disease phenotypes and Covid-19 severity |
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| 2023-06-08 |
Identification of potential causal metabolites associated with atopic dermatitis |
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| 2023-06-08 |
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic |
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| 2023-06-08 |
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency |
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| 2023-02-13 |
Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time |
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| 2023-02-13 |
FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies |
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| 2023-02-13 |
Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson’s disease genes |
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| 2023-02-13 |
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis |
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| 2023-02-13 |
Blood transcriptomic biomarkers of alcohol consumption and cardiovascular disease risk factors: the Framingham Heart Study |
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| 2023-02-13 |
Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms |
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| 2023-02-13 |
Site-specific decreases in DNA methylation in replicating cells following exposure to oxidative stress |
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| 2023-02-13 |
Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1 |
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| 2023-02-13 |
Non-coding RNAs associated with Prader–Willi syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells |
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| 2023-02-13 |
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies |
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| 2023-02-13 |
Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis |
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| 2023-02-13 |
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria |
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| 2023-02-13 |
Combinatorial treatment with exercise and AICAR potentiates the rescue of myotonic dystrophy type 1 mouse muscles in a sex-specific manner |
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| 2023-02-13 |
Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility |
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| 2023-02-13 |
Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time |
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| 2022-09-22 |
Correction to: Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly |
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| 2022-09-22 |
RTL1/PEG11 imprinted in human and mouse brain mediates anxiety-like and social behaviors and regulates neuronal excitability in the locus coeruleus |
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| 2022-09-22 |
Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy |
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| 2022-09-22 |
Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays |
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| 2022-09-22 |
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors |
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| 2022-09-22 |
Motor unit recovery following Smn restoration in mouse models of spinal muscular atrophy |
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| 2022-09-22 |
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach |
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| 2022-09-22 |
Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function |
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| 2022-09-22 |
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency |
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| 2022-09-22 |
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients |
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| 2022-09-22 |
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency |
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| 2022-09-22 |
Integrative multi-omics database (iMOMdb) of Asian pregnant women |
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| 2022-09-22 |
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study |
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| 2022-09-22 |
Novel diabetes gene discovery through comprehensive characterization and integrative analysis of longitudinal gene expression changes |
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| 2022-09-06 |
Correction to: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology |
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| 2022-09-06 |
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases |
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| 2022-09-06 |
A combinatorial approach increases SMN level in SMA model mice |
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| 2022-09-06 |
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice |
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| 2022-09-06 |
An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation |
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