Results 51 to 60 of about 38,591 (268)

Focus on the treatment of hereditary muscular diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI: 10.3969/j.issn.1672-6731.2019.05 ...
Cheng ZHANG
doaj  

Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]

, 2015
Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core   +1 more source

Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.

PLoS Genetics, 2020
Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they ...
Huimin Na, Stefan Zdraljevic, Robyn E Tanny, Albertha J M Walhout, Erik C Andersen   +4 more
doaj   +1 more source

Perfusable Brain Microvascular Network‐On‐Chip Model to Study Flavivirus NS1‐Induced Endothelial Dysfunction

Advanced Functional Materials, EarlyView.
This study presents a microfluidic brain microvascular network‐on‐chip (BMVasChip) to investigate endothelial barrier dysfunction caused by flavivirus non‐structural protein 1 (NS1), including virus‐ and time‐dependent vascular damage, leakiness, and dysfunction.
Monika Rajput, Yen‐Ting Tung, Yu‐Chi Chen, Min Jae Song, Marc Ferrer, Emily M. Lee   +5 more
wiley   +1 more source

Síndrome Weaver

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
El síndrome Weaver es una enfermedad genética poco frecuente, caracterizada por una estatura alta, una apariencia facial típica y una discapacidad intelectual variable.
Elayne Esther Santana Hernández, Rafael Alfredo Llauradó Robles   +1 more
doaj  

Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo

Allergy, Asthma & Clinical Immunology, 2022
Background IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema.
Leonardo Oliveira Mendonça, Adriana Pitchon dos Reis Chuster, Mayra Barros Dorna, Samar Freschi Barros, Janaina Baptista Alves, Victor Lucas Gonçalves, Ariana Campos Yang, Jorge Kalil, Myrthes Anna Maragna Toledo-Barros, Cristina Maria Kokron   +9 more
doaj   +1 more source

Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients

Microorganisms, 2023
Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and ...
Assiya El Kettani, Fatima Ailal, Farida Marnissi, Fouzia Hali, Jalila El Bakkouri, Ibtihal Benhsaien, Tom Le Voyer, Mame Sokhna Guèye, Rémi Chevalier, Soumiya Chiheb, Khalid Zerouali, Emmanuelle Jouanguy, Jean-Laurent Casanova, Ahmed Aziz Bousfiha   +13 more
doaj   +1 more source

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]

, 2019
Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R, Chapman, Kimberly A, Cunningham, Gary, Forny, Patrick, Pumbo, Elena, Summar, Marshall L, Wongkittichote, Parith   +6 more
core   +1 more source

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
core   +2 more sources

Anionic Citrate‐Based 3D‐Printed Scaffolds for Tunable and Sustained Orthobiologic Delivery to Enhance Tissue Regeneration

Advanced Functional Materials, EarlyView.
A potent anionic citric acid‐based 3D‐printed scaffold is developed for the sustained and controlled release of orthobiologics to enhance orthopedic therapeutic efficacy. Comprehensive in vivo studies demonstrated effective bone fusion and high safety at a low dose of BMP‐2 delivered by the system, establishing it as a promising platform for safe ...
Se‐Hwan Lee, Ruqiang Lu, Andrew House, Zizhao Li, Lindsey Hammond Burton, Katie Josephine Sikes, Lynn Marie Pezzanite, Drew William Koch, Kevin Michael Labus, Ben Gadomski, Jeremiah Easley, Richard Tuan Tran, Su Chin Heo   +12 more
wiley   +1 more source