| 2024-11-13 |
Charis Eng, MD, PhD, 1962-2024, In Memoriam |
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| 2024-11-13 |
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels |
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| 2024-11-13 |
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions |
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| 2024-11-13 |
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB |
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| 2024-11-13 |
Investigation of the α9-nicotinic receptor single nucleotide polymorphisms induced oncogenic properties and molecular mechanisms in breast cancer |
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| 2024-11-13 |
The rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population |
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| 2024-11-13 |
Schizophrenia risk-associated SNPs affect expression of microRNA 137 host gene: a postmortem study |
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| 2024-11-07 |
A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration |
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| 2024-11-07 |
Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort |
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| 2024-11-07 |
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons |
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| 2024-11-07 |
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development |
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| 2024-11-07 |
An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways |
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| 2024-11-07 |
Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours |
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| 2024-11-07 |
Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1 |
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| 2024-11-07 |
Talin-1 variants associated with spontaneous coronary artery dissection (SCAD) highlight how even subtle changes in multi-functional scaffold proteins can manifest in disease |
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| 2024-11-07 |
Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms |
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| 2024-09-20 |
Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization |
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| 2024-09-20 |
Correction to: Psychosocial adversity and socioeconomic position during childhood and epigenetic age: analysis of two prospective cohort studies |
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| 2024-09-20 |
Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons |
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| 2024-09-20 |
Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases |
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| 2024-09-20 |
Plasma proteometabolome in lung cancer: exploring biomarkers through bidirectional Mendelian randomization and colocalization analysis |
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| 2024-09-20 |
Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population |
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| 2024-09-20 |
A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction |
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| 2024-09-20 |
Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton |
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| 2024-09-20 |
Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing |
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| 2024-08-08 |
Correction to: Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling |
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| 2024-08-08 |
Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium |
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| 2024-08-08 |
An endogenous retrovirus regulates tumor-specific expression of the immune transcriptional regulator SP140 |
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| 2024-08-08 |
Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218 |
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| 2024-08-08 |
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis |
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| 2024-08-08 |
A combination of chlorzoxazone and folic acid improves recognition memory, anxiety and depression in SCA3-84Q mice |
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| 2024-08-08 |
Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome |
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| 2024-08-08 |
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data |
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| 2024-07-23 |
Correction to: m6A RNA methylation regulates mitochondrial function |
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| 2024-07-23 |
Highly homologous miR-135a and miR-135b converting non-small cell lung cancer from suppression to progression via enhancer switching |
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| 2024-07-23 |
Benfotiamine improves dystrophic pathology and exercise capacity in mdx mice by reducing inflammation and fibrosis |
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| 2024-07-23 |
From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA) |
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| 2024-07-23 |
α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies |
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| 2024-07-23 |
An integrative miRNA-mRNA expression analysis identifies miRNA signatures associated with SOD1 and TARDBP patient-derived motor neurons |
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| 2024-07-23 |
Association of whole-person eigen-polygenic risk scores with Alzheimer’s disease |
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| 2024-07-07 |
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain |
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| 2024-07-07 |
Correction to: Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation |
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| 2024-07-07 |
Genetic susceptibility to chronic diseases leads to heart failure among Europeans: the influence of leukocyte telomere length |
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| 2024-07-07 |
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function |
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| 2024-07-07 |
Genetic correlation between circulating cytokines and risk of three ophthalmic diseases: a bidirectional two-sample Mendelian randomization study |
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| 2024-07-07 |
Predicting prognosis and immunotherapy response in colorectal cancer by pericytes insights from single-cell RNA sequencing |
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| 2024-07-07 |
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A |
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| 2024-07-07 |
Impact of the inaccessible genome on genotype imputation and genome-wide association studies |
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| 2024-07-07 |
Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model |
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| 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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