Results 171 to 180 of about 244,916 (294)

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Development and Internal Validation of an Explainable Machine Learning Model for Physical Activity Adherence Among Community-Dwelling Patients with Type 2 Diabetes Mellitus. [PDF]

Patient Prefer Adherence
Zhao Y, Zhou M, Sun F, Lin C, Niu H, Zhang X, Jiang F, Wu C.   +7 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 pathway‐level analysis defines conserved transcriptional divergence between primary lung tumors and cell line models

Animal Models and Experimental Medicine, EarlyView.
Lung cancer cell lines diverge substantially from primary tumors at the transcriptional level. Using single‐sample gene set enrichment analysis and L1‐penalized feature selection across TCGA‐LUAD and CCLE‐LUAD, we identified five Hallmark pathways (E2F targets, G2M checkpoint, IFNγ response, coagulation, and EMT) that discriminated primary tumors from ...
Pritam Bera, Rajesh Raju, Debodipta Das
wiley   +1 more source

Comparing the use of supervised machine learning variable selection methods in the context of two-group classification in the psychological and health sciences. [PDF]

Front Psychol
Bain CM, Shi D, Banad YM, Boness CL, Loeffelman JE.   +4 more
europepmc   +1 more source

The diagnostic value of the circadian rhythm gene KLF10 in anxiety‐depressive disorders and its neuroimmune regulatory mechanisms

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu, Weifeng Guo, Jianxiang Li, Tiange Zhang, Dan Xu   +4 more
wiley   +1 more source

Multi-omics integration of the vaginal microbiome and inflammatory proteome for non-invasive prediction of infertility: a machine learning approach. [PDF]

Front Cell Dev Biol
Feng Y, Zhang Y, Chen D, Wang A, Liu Z, Zhang Y, Yu R.   +6 more
europepmc   +1 more source

Research on Diaphragm Pump Fault Diagnosis Method Based on Res‐DCB‐Net

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Nonstationary pressure pulsation signals of diaphragm pumps contain strong background noise and coupled characteristics. This makes it challenging to extract incipient fault features and to decouple faults with similar physical mechanisms. To address these limitations, this paper proposes a spatiotemporal fault diagnosis model named Res‐DCB ...
Jiahui Wang, Kaili Zhang, Yongxing Song, Zhaoxin Ma, Sitong Guan, Rongwang Chai, Kexiang Ceng, Jingting Liu   +7 more
wiley   +1 more source

Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia. [PDF]

Clin Epigenetics
Sorrentino U, Mirza-Schreiber N, Pavlov M, Peymani F, Havrankova P, Indelicato E, Serranová T, Kunc L, Lösecke S, Tilch E, Eck S, Prokisch H, Winkelmann J, Boesch S, Jech R, Graf E, Oexle K, Zech M.   +17 more
europepmc   +1 more source

Mapping Lupinus polyphyllus density and distribution along road verges using unmanned aerial vehicle (UAV)–based remote sensing

Applications in Plant Sciences, EarlyView.
Abstract Premise Road verges function as refuges for semi‐natural species, but they can also facilitate the spread of non‐native plants such as Lupinus polyphyllus. Unmanned aerial vehicle (UAV)–based remote sensing is a promising tool for mapping these species; however, its application in roadside contexts remains limited.
Elin L. Blomqvist, Jan‐Olov Andersson, R. Lutz Eckstein, Jan Haas   +3 more
wiley   +1 more source