Results 271 to 280 of about 6,585,062 (339)

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.

, 1990
Hideaki Nakajima, Norio Kôno, T Yamasaki, Kikuko Hotta, Masanori Kawachi, M Kuwajima, Takuya Noguchi, T Tanaka, S Tarui   +8 more
openalex   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

A new point mutation in the HC-Pro of potato virus Y is involved in tobacco vein necrosis. [PDF]

PLoS One
Parrella G, Moury B.
europepmc   +1 more source

Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao, Hongliang Ge, Chenchao Lin, Xiyue Wu, Jianwu Chen   +4 more
wiley   +1 more source

GTP-Bound N-Ras Conformational States and Substates Are Modulated by Membrane and Point Mutation. [PDF]

Int J Mol Sci
Farcas A, Janosi L.
europepmc   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

PROMER technology: A new real-time PCR tool enabling multiplex detection of point mutation with high specificity and sensitivity. [PDF]

Biol Methods Protoc
Nam H, Lee E, Yang H, Lee K, Kwak T, Kim D, Kim H, Yang M, Yang Y, Son S, Nam YH, Minn I.   +11 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

A Point Mutation in Cassette Relieves the Repression Regulation of CcpA Resulting in an Increase in the Degradation of 2,3-Butanediol in Lactococcus lactis. [PDF]

Microorganisms
Xu X, Liu F, Qiao W, Dong Y, Yang H, Liu F, Xu H, Qiao M.   +7 more
europepmc   +1 more source

An Analysis for IDH‐Mutant Grade 4 Astrocytoma Based on WHO CNS 5: Implication of Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose There is ongoing debate regarding the therapeutic approach and prognosis for IDH‐mutant grade 4 astrocytoma, a newly defined subtype of diffuse glioma in the 2021 WHO classification system for central nervous system tumors (WHO CNS 5). The aim of this study was to explore the clinical outcome and prognosticators for newly diagnosed IDH‐
Xianxin Qiu, Liping Liang, Lingchao Chen, Pengjie Hong, Wanzun Lin, Jiabing Liu, Zhirui Zhou, Wenjia Zhu, Tianqi Wu, Mingyuan Pan, Yihua Zhong, Jing Gao, Zhiyong Qin, Yang Wang   +13 more
wiley   +1 more source