Results 241 to 250 of about 176,674 (312)

Harnessing CRISPR-dCas13Rx to identify novel antisense targets for therapeutic splicing modulation. [PDF]

Mol Ther Nucleic Acids
Singh RN, Alves CRR.
europepmc   +1 more source

Truncating <i>Adenomatous Polyposis Coli</i> Mutations Serve as a Biomarker for Advanced Tumor Stage in Iranian Patients with Familial Colorectal Cancer. [PDF]

J Cancer Prev
Zarei A, Khalafi-Nezhad A, Senemar S, Abdollahi A, Fattahi MJ.   +4 more
europepmc   +1 more source

Clinical significance of circulating tumor DNA monitoring based on TP53 mutation in high-grade serous ovarian cancer patients. [PDF]

Transl Cancer Res
Jung H, Kang OJ, Lee YJ, Kang SW, Lee MS, Lee SW, Kim YM.   +6 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Hyperglycemia Due to HNF1A-Mutation-Associated Maturity-Onset Diabetes of the Young (MODY) in a 6-Year-Old Kazakh Girl. [PDF]

Am J Case Rep
Toleuzhanova AB, Zholdybayeva E, Eslamgalieva S, Svyatova G, Akhmetollayeva A.   +4 more
europepmc   +1 more source

Correction: APR-246 induces apoptosis and enhances chemo-sensitivity via activation of ROS and TAp73-Noxa signal in oesophageal squamous cell cancer with TP53 missense mutation. [PDF]

Br J Cancer
Kobayashi T, Makino T, Yamashita K, Saito T, Tanaka K, Takahashi T, Kurokawa Y, Yamasaki M, Nakajima K, Morii E, Eguchi H, Doki Y.   +11 more
europepmc   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Precision diagnosis of <i>GABRA1</i>-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects. [PDF]

Front Genet
Liu WH, Li QL, Li HP, Wen QR, Zhang SQ, Ding Y, Meng H.   +6 more
europepmc   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source