Identifying X-chromosome variants associated with age-related macular degeneration

2024-9-26

14-3-3 phosphorylation inhibits 14-3-3θ’s ability to regulate LRRK2 kinase activity and toxicity

2024-9-26

Charis Eng, MD, PhD, 1962-2024, In Memoriam

2024-9-23

Investigating MATN3 and ASPN as novel drivers of gastric cancer progression via EMT pathways

2024-9-20

Deciphering single-cell gene expression variability and its role in drug response

2024-9-15

Modeling antisense oligonucleotide therapy in <i>MECP2</i> duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels

2024-9-15

Pathomechanisms of Monoallelic variants in <i>TTN</i> causing skeletal muscle disease

2024-9-15

Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in <i>ACTB</i>

2024-9-13

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions

2024-9-13

Pathophysiologic abnormalities in transgenic mice carrying the Alzheimer disease <i>PSEN1</i> Δ440 mutation

2024-9-11

The rs6576457 G &amp;gt; A variant in the <i>MKRN3</i> gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population

2024-9-6

A new mouse model for <i>PRPH2</i> pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration

2024-9-5

Investigation of the α9-nicotinic receptor single nucleotide polymorphisms induced oncogenic properties and molecular mechanisms in breast cancer

2024-9-5

Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort

2024-9-2

<i>NEK1</i> haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in <i>C9ORF72</i> patient-derived iPSC-motoneurons

2024-9-2

TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development

2024-8-31

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways

2024-8-29

Schizophrenia risk-associated SNPs affect expression of microRNA 137 host gene: a postmortem study

2024-8-28

Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours

2024-8-24

Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1

2024-8-24

Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization

2024-8-22

Alzheimer’s disease risk gene <i>CD2AP</i> is a dose-sensitive determinant of synaptic structure and plasticity

2024-8-15

Retraction of: Absence of ALOX5 gene prevents stress-induced memory deficits, synaptic dysfunction and tauopathy in a mouse model of Alzheimer's disease

2024-8-15

Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms

2024-8-13

Correction to: Psychosocial adversity and socioeconomic position during childhood and epigenetic age: analysis of two prospective cohort studies

2024-8-12

Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1

2024-8-11

Rescue of <i>Scn5a</i> mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model

2024-8-10

Intrinsic link between PGRN and <i>Gba1</i> D409V mutation dosage in potentiating Gaucher disease

2024-8-5

SIRT1-driven mechanism: sevoflurane’s interference with mESC neural differentiation via PRRX1/DRD2 cascade

2024-8-1

DNA methylation near <i>MAD1L1, KDM2B</i>, and <i>SOCS3</i> mediates the effect of socioeconomic status on elevated body mass index in African American adults

2024-7-31

ETV4/NSUN2 Axis modulates aerobic glycolysis and malignancy in HSCC

2024-7-30

Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons

2024-7-24

Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases

2024-7-17

Plasma proteometabolome in lung cancer: exploring biomarkers through bidirectional Mendelian randomization and colocalization analysis

2024-7-16

Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton

2024-7-9

Correction to: Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling

2024-7-9

Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population

2024-7-9

A novel copy number variant in the murine <i>Cdh23</i> gene gives rise to profound deafness and vestibular dysfunction

2024-7-9

Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing

2024-7-6

Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases <i>WARS2</i>, <i>NARS2</i>, and <i>RARS2</i> genes associated with mitochondrial diseases

2024-6-30

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice

2024-6-20

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder

2024-6-18

Correction to: m6A RNA methylation regulates mitochondrial function

2024-6-17

The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway

2024-6-17

Multi-ancestry polygenic risk scores for venous thromboembolism

2024-6-16

The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance

2024-6-13

Ablation of the dystrophin Dp71f alternative C-terminal variant increases sarcoma tumour cell aggressiveness

2024-6-8

Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain

2024-6-4

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10

2024-5-30

Correction to: Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation

2024-5-30