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Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted genome sequencing of 227...
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Loss of the large conductance calcium-activated potassium channel causes an increase in mitochondrial reactive oxygen species in glioblastoma cells
Mitochondrial potassium (mitoK) channels play an important role in cellular physiology. These channels are expressed in healthy tissues and cancer...
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Diabetes mellitus and hearing loss
Diabetes mellitus (DM) is a major disease threatening human health and its incidence is increasing year on year. As a chronic complication of DM,...
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The prognostic value of weight loss during radiotherapy among patients with nasopharyngeal carcinoma: a large-scale cohort study
BackgroundWe aim to investigate the prognostic value of weight loss during radiotherapy (RT) among patients with nasopharyngeal carcinoma (NPC).
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Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
Hearing loss is one of the most common sensory defects, affecting 5.5% of the worldwide population and significantly impacting health and social...
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Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families
BackgroundHearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing...
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Acoustically targeted noninvasive gene therapy in large brain volumes
Focused Ultrasound Blood-Brain Barrier Opening (FUS-BBBO) can deliver adeno-associated viral vectors (AAVs) to treat genetic disorders of the brain....
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Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation
The mRNA transcript of the human STMN2 gene, encoding for stathmin-2 protein (also called SCG10), is profoundly impacted by TAR DNA-binding protein...
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Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study
Amyotrophic Lateral Sclerosis (ALS) is mainly characterized by the degeneration of corticospinal neurons and spinal α-motoneurons; vulnerable cells...
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Synaptic loss and its association with symptom severity in Parkinson’s disease
Parkinson’s disease (PD) is the fastest growing neurodegenerative disease, but at present there is no cure, nor any disease-modifying treatments....
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Echoes of images: multi-loss network for image retrieval in vision transformers
AbstractThis paper introduces a novel approach to enhance content-based image retrieval, validated on two benchmark datasets: ISIC-2017 and...
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Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
Hearing loss (HL) is a heterogenous trait with pathogenic variants in more than 200 genes that have been discovered in studies involving small and...
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Loss of Untouched Land
The Arctic, which is from a global perspective to be seen as the ‘last of the wild’, is facing human-induced developments that are increasingly...
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A systematic review on the contribution of DNA methylation to hearing loss
BackgroundDNA methylation may have a regulatory role in monogenic sensorineural hearing loss and complex, polygenic phenotypic forms of hearing loss,...
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Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
Loss-of-function variants in CCM1/KRIT1 , CCM2/MGC4607 , and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple...
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal...
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Genetic prediction of male pattern baldness based on large independent datasets
Genetic prediction of male pattern baldness (MPB) is important in science and society. Previous genetic MPB prediction models were limited by sparse...
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Methamphetamine alters nucleus accumbens neural activation to monetary loss in healthy young adults
RationaleStimulant drugs like methamphetamine (MA) activate brain reward circuitry, which is linked to the development of problematic drug use. It is...
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Increased risk of psychiatric disorder in patients with hearing loss: a nationwide population-based cohort study
BackgroundHearing loss has been shown to be a risk factor for psychiatric disorders. In addition, long-term hearing loss is associated with increased...
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Unintentional Weight Loss and Malnutrition After Esophageal Cancer and Treatment
Patients with esophageal cancer present a management challenge from a nutritional standpoint. Among patients with esophageal cancer, weight loss and...