Results 341 to 350 of about 4,713,939 (389)

Publisher Correction: Facilitating high throughput collections-based genomics: a comparison of DNA extraction and library building methods. [PDF]

Sci Rep
Marsh WA, Hall A, Barnes I, Price B.
europepmc   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Utility of Magnetic Bead-Based Automated DNA Extraction to Improve Chagas Disease Molecular Diagnosis. [PDF]

Int J Mol Sci
Farani PSG, Lopez J, Faier-Pereira A, Hasslocher-Moreno AM, Almeida IC, Moreira OC.   +5 more
europepmc   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

Evaluation of Saliva Collection and DNA Extraction Methods for Practical Application of Salivary Human Herpesvirus 6 and 7 Assays. [PDF]

Viruses
Tamai S, Sone R, Watanabe K, Shimizu K.
europepmc   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Reducing costs and shortening the cetyltrimethylammonium bromide (CTAB) method to improve DNA extraction efficiency from wintersweet and some other plants. [PDF]

Sci Rep
Liu B, Wu H, Cao Y, Ma G, Zheng X, Zhu H, Song X, Sui S.   +7 more
europepmc   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Efficiency comparison of DNA extraction kits for analysing the cockle gut bacteriome. [PDF]

Heliyon
Lourenço CF, Almeida AR, Soares AMVM, Marques CR.   +3 more
europepmc   +1 more source

Optimizing a modified cetyltrimethylammonium bromide protocol for fungal DNA extraction: Insights from multilocus gene amplification. [PDF]

Open Life Sci
Dar GJ, Nazir R, Wani SA, Farooq S, Aziz T, Albekairi TH.   +5 more
europepmc   +1 more source