Results 241 to 250 of about 7,473,287 (361)

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

Transforming Pharmacogenomics and CRISPR Gene Editing with the Power of Artificial Intelligence for Precision Medicine. [PDF]

Pharmaceutics
Srivastav AK, Mishra MK, Lillard JW, Singh R.   +3 more
europepmc   +1 more source

Orthogonal Cas9 proteins for RNA-guided gene regulation and editing

, 2013
Kevin M. Esvelt, Prashant Mali, Jonathan L. Braff, Mark Moosburner, Stephanie J. Yaung, George M. Church   +5 more
openalex   +2 more sources

Gene editing: Survey invites opinions [PDF]

, 2015
Silvia Camporesi, Lara V. Marks
openalex   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Prenatal gene editing for neurodevelopmental diseases: Ethical considerations. [PDF]

Am J Hum Genet
Major RM, Juengst ET.
europepmc   +1 more source

Adeno-associated virus inverted terminal repeats stimulate gene editing

, 2014
Matthew Hirsch
openalex   +1 more source

Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett, Karl Everett, Colleen J. Maxwell, Feng Zhu, Ayesha Asaf, Ping Li, Kyla A. McKay, Yinshan Zhao, Ruth Ann Marrie   +8 more
wiley   +1 more source

Comparative Analysis of Methods for Assessing On-Target Gene Editing Efficiencies. [PDF]

Methods Protoc
Yao B, Yang Q, Gonçalves MAFV, Schiffelers R, Sluijter JPG, Lei Z.   +5 more
europepmc   +1 more source

Chronic SSRI stimulation of astrocytic 5-HT2B receptors change multiple gene expressions/editings and metabolism of glutamate, glucose and glycogen: a potential paradigm shift [PDF]

, 2015
Leif Hertz, Douglas L. Rothman, Baoman Li, Liang Peng   +3 more
openalex   +1 more source