Results 221 to 230 of about 318,841 (302)

Genomics and genetic rescue

Proceedings of the National Academy of Sciences
openaire   +2 more sources

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

New discoveries in the genetics and genomics of systemic juvenile idiopathic arthritis. [PDF]

Expert Rev Clin Immunol
Correia Marques M, Ombrello MJ, Schulert GS.   +2 more
europepmc   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

Advanced Healthcare Materials, EarlyView.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin, Alexander Chen, Quincy P. Lyons, Michael B. Nguyen, Maria L. Karkanitsa, Justin Yu, Van K. Ninh, Emily Gardner, Elyse G. Wong, Sriya N. Paleti, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Colin G. Luo, Zhenxing Fu, Kevin R. King, Karen L. Christman   +18 more
wiley   +1 more source

Introducing BMJ Connections Clinical Genetics and Genomics

BMJ Connections Clinical Genetics and Genomics
Darren K Griffin
doaj   +1 more source

Nothing about Us without Us in Precision Medicine: A Call to Reframe Disability Difference in Genetics and Genomics. [PDF]

Hastings Cent Rep
Mintz KT, Stramondo JA, Tabor HK.
europepmc   +1 more source

Ultrasensitive Detection of Porcine Epidemic Diarrhea Virus Infections Using Multivalent DNA Nanostructure‐Enabled Lateral Flow Assay

Advanced Healthcare Materials, EarlyView.
A multivalent DNA nanostructure‐enabled lateral flow assay was developed for rapid, ultrasensitive detection of porcine epidemic diarrhea virus (PEDV) nucleocapsid protein. Designer net‐shaped DNA nanostructures (DNA‐Net) presenting PEDV‐specific aptamers achieved ~1000‐fold enhanced binding, enabling detection of viral copies with Ct ≤ 37.42 within 10
Saurabh Umrao, Akhila Naru, Dhanush Gandavadi, Mengxi Zheng, Saraswathi Lanka, Hyeongjun Cho, Chau Nguyen Minh Hoang, Jianqiang Zhang, Ying Fang, Xing Wang   +9 more
wiley   +1 more source

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Lee K, Abul-Husn NS, Amendola LM, Brothers KB, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Li M, Ondrasik D, Richards CS, Stergachis A, Stewart DR, Martin CL, Miller DT, ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net.   +16 more
europepmc   +1 more source