Retroelements, including retrotransposons, endogenous retroviruses, and their fragments, as well as rare co-opted or domesticated retroelements, can contribute to neurodegenerative disorders and aging through modulation of gene expression and induction of neuroinflammation. Paternally Expressed Gene 10 (PEG10) is a retroelement-derived human gene that has recently been identified as a putative driver of Amyotrophic Lateral Sclerosis […]
The retroelement-derived human protein PEG10 is a regulator of mRNA splicing in neurons
Retroelements, including retrotransposons, endogenous retroviruses, and their fragments, as well as rare co-opted or domesticated retroelements, can contribute to neurodegenerative disorders and aging through modulation of gene expression and induction of neuroinflammation. Paternally Expressed Gene 10 (PEG10) is a retroelement-derived human gene that has recently been identified as a putative driver of Amyotrophic Lateral Sclerosis […]
Snhg26 long non-coding RNA regulates pluripotent cell states through a SINEB2-derived sequence
Long-non coding RNAs (lncRNAs) are now well established players in gene expression regulation, but their detailed molecular mechanisms of action and underlying regulating sequences remain poorly understood. An emerging concept supports the idea that repeated sequences, more notably sequences derived from transposable elements (TEs), contribute to functional domains of lncRNAs. Here, we undertake the characterization […]
The combination of EWSR1-FLI1 and loss of one EWSR1 allele leads to the induction of trisomy 8
Ewing sarcoma is a pediatric cancer that develops in skeletal elements. The majority of Ewing sarcoma patients carry the aberrant EWSR1-FLI1 fusion gene. Despite trisomy 8 being an additional common aberration associated with a poor prognosis for patients, its induction mechanism remains unknown. When the EWSR1-FLI1 gene is formed, the cell loses one wildtype EWSR1 […]
p63 and PITX1 sustain a pre-invasive malignant keratinocyte population in squamous cell carcinoma precursors
Background: Cutaneous squamous cell carcinoma (cSCC) is among the most common human cancers, yet the cellular identity and molecular programs of its preinvasive precursor, actinic keratosis (AK), remains poorly defined. Methods: We applied CITE-seq to patient-matched AK, UV-exposed normal skin, and non-UV-exposed normal skin (n=5 patients, 12 biopsies) and performed spatial whole-transcriptome profiling in an […]
Snhg26 long non-coding RNA regulates pluripotent cell states through a SINEB2-derived sequence
Long-non coding RNAs (lncRNAs) are now well established players in gene expression regulation, but their detailed molecular mechanisms of action and underlying regulating sequences remain poorly understood. An emerging concept supports the idea that repeated sequences, more notably sequences derived from transposable elements (TEs), contribute to functional domains of lncRNAs. Here, we undertake the characterization […]
p63 and PITX1 sustain a pre-invasive malignant keratinocyte population in squamous cell carcinoma precursors
Background: Cutaneous squamous cell carcinoma (cSCC) is among the most common human cancers, yet the cellular identity and molecular programs of its preinvasive precursor, actinic keratosis (AK), remains poorly defined. Methods: We applied CITE-seq to patient-matched AK, UV-exposed normal skin, and non-UV-exposed normal skin (n=5 patients, 12 biopsies) and performed spatial whole-transcriptome profiling in an […]
The combination of EWSR1-FLI1 and loss of one EWSR1 allele leads to the induction of trisomy 8
Ewing sarcoma is a pediatric cancer that develops in skeletal elements. The majority of Ewing sarcoma patients carry the aberrant EWSR1-FLI1 fusion gene. Despite trisomy 8 being an additional common aberration associated with a poor prognosis for patients, its induction mechanism remains unknown. When the EWSR1-FLI1 gene is formed, the cell loses one wildtype EWSR1 […]
Impact of Imaging Protocols on Thermal Detection of Pressure Injuries: Threshold versus Deep Learning Across Skin Tones
Pressure injuries represent a significant healthcare challenge requiring early detection to prevent severe complications. While thermal imaging shows promise for detecting early pressure-related temperature changes, its robustness across varying imaging conditions and diverse patient populations remains unclear. This study systematically evaluated how imaging protocol variations (lighting, distance, positioning, camera type) and participant skin tone influence […]
Thermal Discomfort and In-vitro Fertilization Treatment Outcomes
Background: Literature on the role of thermal discomfort (heat- and cold-stress) on in-vitro fertilization (IVF) outcomes are scarce and inconclusive. This multi-center research examines association between heat stress and IVF treatment outcomes in Andhra Pradesh, which is prone to year around chronic heat stress. Methods: IVF data were abstracted from clinical chart review of all […]
Cognitive test performance in CLN3 Disease is associated with the CLN3 Staging System (CLN3SS)
CLN3 disease is an inherited neurodegenerative disease, typically with childhood onset, and characterized by vision loss, seizures, cognitive decline, and difficulties. The CLN3 Staging System (CLN3SS) characterizes disease progression. Our aim was to assess differences in cognitive test scores in relation to CLN3SS among individuals with CLN3 disease. We evaluated the relationship between cognitive test […]
Development and evaluation of the cooperative experiences measure
Given the growing crisis in youth mental health, there is a critical need to rebuild and sustain healthy social environments. Cooperative experiences (e.g., sports, clubs) may promote mental health but we lack rigorously tested measures to drive research and evaluation. This study sought to develop a measure of cooperative experiences and test associations with health. […]