Results 91 to 100 of about 314,830 (333)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders

Brain Sciences, 2018
Males and females sometimes significantly differ in their propensity to develop neurological disorders. Females suffer more from mood disorders such as depression and anxiety, whereas males are more susceptible to deficits in the dopamine system ...
Paulo Pinares-Garcia, Marielle Stratikopoulos, Alice Zagato, Hannah Loke, Joohyung Lee   +4 more
doaj   +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

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Neurobiology of Disease, 2010
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders
Amber Hogart, David Wu, Janine M. LaSalle, N. Carolyn Schanen   +3 more
doaj  

Chromosome 1p13 genetic variants antagonize the risk of myocardial infarction associated with high ApoB serum levels [PDF]

, 2012
PMCID: PMC3480949This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided ...
A Dempfle, AP Burke, B Gigante, B Gigante, Bruna Gigante, C Reuterwall, C Schmegner, CJ Willer, CS Greene, D Altshuler, E Jakkula, E Salmela, E Zotova, J Karvanen, JP Ioannidis, KA Eagle, Karin Leander, KJ Rothman, KT Zondervan, M Lundberg, Max Vikström, MS Sandhu, NJ Samani, NJ Samani, P Linsel-Nitschke, S Kathiresan, S Kathiresan, S Kathiresan, S Purcell, S Sanna, Shu Ye, TA Manolio, Ulf de Faire, YJ Liu   +33 more
core   +2 more sources

Recent Applications of Mesoporous Silica Nanoparticles in Gene Therapy

Advanced Healthcare Materials, EarlyView.
The review summarizes the synthesis of mesoporous silica nanoparticles (MSNs) with modifiable surface properties, functionalization strategies, mechanism of therapeutic payload release, and current applications in gene therapy, focusing on their capabilities in the targeted delivery of therapeutic nucleic acids, CRISPR‐Cas systems, and other genetic ...
Tamanna Binte Huq, Punnya Anil Kumar Jeeja, Sudip Kumar Dam, Sabya Sachi Das, Juan L. Vivero‐Escoto   +4 more
wiley   +1 more source

Alzheimer's disease and HIV associated dementia related genes: I. location and function. [PDF]

, 2008
Alzheimer's disease (AD), the most common cause of dementia, has few clinical similarities to HIV-1-associated dementia (HAD). However, genes were identified related among these dementias.
Chiappelli, Francesco, Kayathri, Rajarathinam, Levine, Andrew, Minagar, Alireza, Rodriguez, Hector E, Shapshak, Paul   +5 more
core   +3 more sources

Targeting Decidual CD16+ Immune Cells with Exosome‐Based Glucocorticoid Nanoparticles for Miscarriage

Advanced Science, EarlyView.
Exosome‐based nanoparticles (GC‐Exo‐CD16Ab) are designed to deliver glucocorticoids (GC) specifically to decidual CD16+ NK cells and macrophages. This targeted delivery effectively suppresses the cytotoxicity of decidual NK cells, inhibits M1 macrophage polarization, and modulates the decidual microenvironment.
Linlin Wang, Zhinang Yin, Yanqiong Shen, Gang Feng, Fangfang Dai, Dongyong Yang, Zhimin Deng, Jing Yang, Ruizhi Chen, Leifeng Yang, Xian Chen, Qing Sun, Chunyu Huang, Yanxiang Cheng, Hongbing Deng, Lianghui Diao, Longfei Li, Tailang Yin   +17 more
wiley   +1 more source

Mouse models of aneuploidy to understand chromosome disorders. [PDF]

Mamm Genome, 2022
Tosh J, Tybulewicz V, Fisher EMC.
europepmc   +1 more source