Results 31 to 40 of about 6,916 (192)

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

The predictive value of Cardiodynamicsgram in myocardial perfusion abnormalities.

PLoS ONE, 2018
Myocardial perfusion abnormalities are the first sign of the ischemic cascade in the development of coronary artery disease (CAD). Thus, the early detection of myocardial perfusion abnormalities is significant for the prevention of CAD. Recently, a novel
Xunde Dong, Jinhe Zhang, Hongji Lai, Min Tang, Shanxing Ou, Jianhong Dou, Cong Wang   +6 more
doaj   +1 more source

Tensions of Sustainability Logics: Performance of a Company Utilizing a Sustainable Business Model

Business Strategy and the Environment, EarlyView.
ABSTRACT In recent years, companies have used sustainable business models to gain a competitive advantage. However, there are tensions due to the inconsistency between social, environmental, and economic logic in sustainable business models, making it difficult for companies to change. To understand the existing tensions and interactions between logics,
Ann‐Kristin Thienemann
wiley   +1 more source

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Orphanet Journal of Rare Diseases, 2010
Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly.
Zagal Ahmad, Kaya Namik, Mohamed Sarar, Al-Owain Mohammed, Matthijs Gert, Jaeken Jaak   +5 more
doaj   +1 more source

From Blue Economy to Blue Marketing: Linking Consumer Engagement and Corporate Strategy for Ocean Sustainability—Theoretical Foundations and Propositions

Corporate Social Responsibility and Environmental Management, EarlyView.
ABSTRACT Blue economy advocates the sustainable use of marine resources while fostering economic growth and environmental preservation. Yet many business sectors still pursue extractive practices that undermine marine ecosystems and disregard consumers' sensitivity.
Maria Irene Prete, Antonio Mileti, Diego Gabriele Coppola   +2 more
wiley   +1 more source

Characterizing chapeau de gendarme in pediatric epilepsy through systematic video‐EEG evaluation

Epilepsia, EarlyView.
Abstract Objective Chapeau de gendarme (CdG) is a subtle but clinically relevant semiology that has been scarcely studied in children. Previous studies have primarily focused on its localizing value in small, surgical cohorts. This study aimed to systematically characterize frequency and clinical features of CdG across the pediatric age spectrum ...
Hanna Barbara Brinkmann, Lea Nakamura, Jan Schönberger, Julia Jacobs, Victoria San Antonio‐Arce, Kerstin Alexandra Klotz   +5 more
wiley   +1 more source

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)

Orphanet Journal of Rare Diseases
Background Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life.
Joana Poejo, Ana Isabel Gomes, Pedro Granjo, Vanessa dos Reis Ferreira   +3 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The mucosal adjuvant cyclic di-GMP enhances antigen uptake and selectively activates pinocytosis-efficient cells in vivo

eLife, 2015
Effective mucosal adjuvants enhance the magnitude and quality of the vaccine response. Cyclic di-GMP (CDG) is a promising mucosal vaccine adjuvant. However, its in vivo mechanisms are unclear. Here, we showed, in mice, that CDG elicits stronger Ab and TH
Steven M Blaauboer, Samira Mansouri, Heidi R Tucker, Hatti L Wang, Vincent D Gabrielle, Lei Jin   +5 more
doaj   +1 more source

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Molecular Genetics and Metabolism Reports, 2021
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel   +14 more
doaj   +1 more source