Results 191 to 200 of about 1,871,213 (304)

AI‐Based Mitochondrial Network Characterization as a Biomarker for DNM1L‐Related Disease Diagnosis

Advanced Intelligent Systems, EarlyView.
This work provides proof‐of‐concept that AI‐based analysis of mitochondrial network morphology in patient‐derived fibroblasts can identify a phenotypic signature associated with DNM1L deficiency. This automated approach may ultimately provide a complementary functional readout for the interpretation of novel DNM1L variants following genetic testing ...
Uliana Musokhranova, Ioannis Georvasilis, Sofía Illescas, Matina Saritzoglou, Marcos Frías, Mònica Roldán, Anna Ardissone, Isabella Moroni, Àngels García‐Cazorla, Alfonso Oyarzábal   +9 more
wiley   +1 more source

Unexplained neurological deterioration after acute brain injury: A structured intensive care framework for targeted continuous electroencephalogram. [PDF]

Surg Neurol Int
Oda K, Nakatani N, Kinoshita T, Fukuda A.   +3 more
europepmc   +1 more source

Interactions between maternal provisioning and natural selection on seed mass fluctuate across heat waves

American Journal of Botany, EarlyView.
Abstract Premise Changing climates are leading to more frequent and severe heat waves, potentially threatening plant populations. Both acclimation to stress and selection for heat‐escape or heat‐resistance phenotypes occur during heat waves. However, plastic responses and selection do not necessarily interact cohesively—even producing trait responses ...
Lana F. Gaspard, Elissa Harb, Stacy D. Holt Jr., Courtney M. Patterson, Nicholas J. Kooyers   +4 more
wiley   +1 more source

Distinct Patterns of Syntactic Errors Doubly Dissociate in Chronic Poststroke Aphasia. [PDF]

J Cogn Neurosci
Yeaton JD, Fahey D, Gomez M, Stark BC, Fridriksson J, den Ouden DB, Hickok G, Matchin W.   +7 more
europepmc   +1 more source

Success of coastal sage scrub restoration is influenced by local adaptations of shrub species

American Journal of Botany, EarlyView.
Abstract Premise Restoring plant communities is increasingly challenging with climate change. While practitioners have traditionally used local seed sources, many are recommending assisted migration, possibly from more extreme environments such as inland rather than coastal environments, for restoration.
Moises R. Perea‐Vega, Megan E. Lulow, Julie E. Coffey, Amy K. Henry, Katharina T. Schmidt, Priscilla M. Ta, Kailen A. Mooney, Sarah Kimball   +7 more
wiley   +1 more source

From structure to sequence: A multinomial processing tree model of syntactic encoding. [PDF]

Psychon Bull Rev
Yeaton JD, Walker GM, Fahey D, Matchin W, Fridriksson J, Hickok G.   +5 more
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

WITHDRAWAL - Administrative Duplicate Publication: Expanding the Diagnostic Lens: Mast Cell Activation Syndromes and the Hidden Spectrum of Angioedema Associated Mortality in COVID-19. [PDF]

Acad Forensic Pathol
europepmc   +1 more source

Corrigendum to "Mechanisms of tumor cell evasion from NK cell-mediated killing and advances in NK cell-based cancer immunotherapy" [Pharm. Sci. Adv. 4 (2026) 100109]. [PDF]

Pharm Sci Adv
Zheng R, Wang Z, Zhang B, Li Y, Gao S, Guo Y, Meng D, Mu X, Shao L.   +8 more
europepmc   +1 more source