Results 91 to 100 of about 83,578 (286)

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

A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

Balkan Journal of Medical Genetics, 2019
Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with ...
Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D   +3 more
doaj   +1 more source

Consolidate Overview of Ribonucleic Acid Molecular Dynamics: From Molecular Movements to Material Innovations

Advanced Engineering Materials, EarlyView.
Molecular dynamics simulations are advancing the study of ribonucleic acid (RNA) and RNA‐conjugated molecules. These developments include improvements in force fields, long‐timescale dynamics, and coarse‐grained models, addressing limitations and refining methods.
Kanchan Yadav, Iksoo Jang, Jong Bum Lee
wiley   +1 more source

A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis

PLOS ONE, 2015
Ichthyoses are a group of various different types of hereditary disorders affecting skin cornification. They are characterized by hyperkeratoses of different severity levels and are associated with a dry and scaling skin. Genome-wide association analysis of nine affected and 13 unaffected Great Danes revealed a genome-wide significant peak on ...
A. Wöhlke, Ottmar Distl, Eva-Maria Küch, Julia Metzger, Hassan Y. Naim, Marion Hewicker-Trautwein, Reinhard Mischke, Annalena Hoffmann   +7 more
openaire   +4 more sources

Nanobody‐Decorated Lipid Nanoparticles for Enhanced mRNA Delivery to Tumors In Vivo

Advanced Healthcare Materials, EarlyView.
This study presents a targeted mRNA‐LNP platform engineered with anti‐PSMA nanobodies for prostate cancer therapy. Using different in vivo models, the authors demonstrate selective uptake and mRNA delivery in PSMA+ cancer cells. However, while targeting is enhanced, mRNA delivery efficacy is limited by tissue penetration, tumor necrosis, and immune ...
Pol Escudé Martinez de Castilla, Vincenzo Verdi, Willemijn de Voogt, Mariona Estapé Sentí, Arnold C. Koekman, Julian Rietveld, Sven van Kempen, Qiangbing Yang, Juliette van Merris, Guido Jenster, Martin E. van Royen, Marcel H. Fens, Sander A. A. Kooijmans, Wytske M. van Weerden, Guillaume van Niel, Pieter Vader, Raymond M. Schiffelers   +16 more
wiley   +1 more source

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Muscles
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome
Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou   +10 more
doaj   +1 more source

Development of a Modular Ribonucleoprotein Complex as a General Strategy to Deliver RNAi Therapeutics

Advanced Healthcare Materials, EarlyView.
A modular and customizable RNAi therapeutics delivery platform composed of a pseudosymmetric human RNA binding protein‐siRNA complex (SmiRNP) is developed. By fusing a targeting module and an endosomal escape peptide onto the delivery platform, SmiRNP successfully delivered siRNA to silence the KRAS oncogene in a colorectal carcinoma cell line, leading
Nok Yin Tam, Xiaoqi Wang, Grace Chung Yan Chan, Wai Po Kong, Wai Yin Chau, Xiuqiong Fu, Kwok‐Yin Wong, Hong Lok Lung, Zhi‐Ling Yu, Wei Shen Aik   +9 more
wiley   +1 more source

Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS) (Majewski).
Chih-Ping Chen, Tung-Yao Chang, Chen-Yu Chen, Tao-Yeuan Wang, Fuu-Jen Tsai, Pei-Chen Wu, Schu-Rern Chern, Wayseen Wang   +7 more
doaj   +1 more source

Genetic Engineering Methods in Primary T Cells

Advanced Therapeutics, EarlyView.
Primary T cells can be engineered to confer them with novel therapeutic functions, allowing them to treat a variety of conditions. Genetic engineering can be either stable or transient, aiming to either express or inhibit a target gene. This review discusses the various genetic engineering tools available as well as their characteristics and ...
Anthony Youssef, Hui‐Shan Li
wiley   +1 more source

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Human Genomics, 2012
Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability.
Alkindy Adila, Chuzhanova Nadia, Kini Usha, Cooper David N, Upadhyaya Meena   +4 more
doaj   +1 more source