Results 61 to 70 of about 8,184 (185)

Mitochondrial respiration and characteristics of skeletal muscles in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Skeletal muscles utilize numerous mitochondria for energy production needed during muscle contraction. Mitochondria produce this energy through the electron transport chain. After an injury such as ACL‐injury in typically developing children, there is a reduction in muscle mitochondrial respiration and content.
Sudarshan Dayanidhi, Guadalupe Meza, Ryan E. Kahn, Timothy Krater, Addison Barber, Tasos Karakostas, Craig J. Finlayson, Ishan Roy, Neeraj M. Patel, Jill E. Larson, Vineeta T. Swaroop   +10 more
wiley   +1 more source

miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease

Archivos de Bronconeumología, 2021
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition resulting in lung and liver disease with a great clinical variability. MicroRNAs have been identified as disease modifiers; therefore miRNA deregulation could play an important role in disease heterogeneity.
Matamala, Nerea, Lara, Beatriz, Gomez-Mariano, Gema Maria, Martinez Rodríguez, Selene, Vazquez-Dominguez, Irene, Otero-Sobrino, Álvaro, Muñoz-Callejas, Antonio, Sánchez, Elena, Esquinas, Cristina, Bustamante, Ana, Cadenas, Sergio, Curi, Sergio, Lázaro, Lourdes, Martínez, María Teresa, Rodríguez, Esther, Miravitlles, Marc, Torres-Durán, María, Herrero, Inés, Michel, Francisco Javier, Castillo, Silvia, Hernández-Pérez, José Mª, Blanco, Ignacio, Casas, Francisco, Martinez-Delgado, Beatriz   +23 more
openaire   +6 more sources

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid, Peter G. Hains, Velda X. Han, Jingya Yan, Michael Griffiths, Ignatius Pang, Sushil Bandodkar, Phillip J. Robinson, Russell C. Dale   +8 more
wiley   +1 more source

Identification and characterisation of twenty-two novel SERPINA1 pathological mutations

, 2020
Background: Alpha-1 antitrypsin (AAT) is a serine protease inhibitor, encoded by the highly polymorphic SERPINA1 gene. Mutations in the SERPINA1 gene can lead to AAT deficiency (AATD), which is associated with a substantially increased risk of lung and ...
Mariani, Francesca, Anna Maria Fra, Piloni, Davide, Ottaviani, Stefania, Fra, Anna Maria, Stefania Ottaviani, Francesca Mariani, Ferrarotti, Ilaria, Tomas Patrick Carroll, Noel Gerard Mc Elvaney, Angelo Guido Corsico, Carroll, Tomas Patrick, Davide Piloni, Ilaria Ferrarotti, Alice Maria Balderacchi, Balderacchi, Alice Maria, Mc Elvaney, Noel Gerard, Corsico, Angelo Guido, Valentina Barzon, Barzon, Valentina   +19 more
core   +1 more source

A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency

PLoS ONE, 2012
Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α(1)-Antitrypsin (α(1)AT). α(1)AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA.
Darren N Saunders, Elizabeth A Tindall, Robert F Shearer, Jacquelyn Roberson, Amy Decker, Jean Amos Wilson, Vanessa M Hayes   +6 more
openaire   +4 more sources

Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology

International Journal of COPD, 2019
Martina Veith,1 Andreas Klemmer,1 Iker Anton,2 Rachid El Hamss,2 Noelia Rapun,2 Sabina Janciauskiene,3 Viktor Kotke,1 Christian Herr,4 Robert Bals,4 Claus Franz Vogelmeier,1 Timm Greulich1 1Department of Medicine, Pulmonary and Critical Care Medicine ...
Veith M, Klemmer A, Anton I, El Hamss R, Rapun N, Janciauskiene S, Kotke V, Herr C, Bals R, Vogelmeier CF, Greulich T   +10 more
doaj  

Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

Genetics and Molecular Biology, 2008
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S
Guilherme Baldo, Ana Ayala, Matias Melendez, Karina Nonnemacher, Luciane Lima, Sandra Leistner Segal, Carlos Kieling, Sandra Gonçalves Vieira, Cristina Targa Ferreira, Themis Reverbel da Silveira, Roberto Giugliani, Ursula Matte   +11 more
doaj   +1 more source

Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease.

PLoS Genetics, 2021
α1-anti-trypsin (A1AT), encoded by SERPINA1, is a neutrophil elastase inhibitor that controls the inflammatory response in the lung. Severe A1AT deficiency increases risk for Chronic Obstructive Pulmonary Disease (COPD), however, the role of A1AT in COPD
Lela Lackey, Aaztli Coria, Auyon J Ghosh, Phil Grayeski, Abigail Hatfield, Vijay Shankar, John Platig, Zhonghui Xu, Silvia B V Ramos, Edwin K Silverman, Victor E Ortega, Michael H Cho, Craig P Hersh, Brian D Hobbs, Peter Castaldi, Alain Laederach   +15 more
doaj   +1 more source

The Role of Oxidative Stress in Periodontitis

Journal of Periodontal Research, EarlyView.
Oxidative stress is involved in multiple chemical reactions that take place in different intracellular organelles: mitochondria, rough endoplasmic reticulum, peroxisomes, autophagy, and aging, and can be influenced by exogenous factors: nutrition, physical activity, psychological status, environmental conditions, microbiome, and drugs.
Pedro Bullon, Francesca Giampieri, Beatriz Bullon, Maurizio Battino   +3 more
wiley   +1 more source

Influence of SERPINA1 Gene Polymorphisms on Anemia and Chronic Obstructive Pulmonary Disease

Journal of the Renin-Angiotensin-Aldosterone System, 2022
Background. Anemia is one of the predominant hematological conditions, whereas chronic obstructive pulmonary disease (COPD) is a predominant respiratory disease. These two diseases were found to be interlinked, but the physiological pathways are still unclear. Aim.
Thangavelu Sangeetha, Tajuddin Nargis Begum, Balasubramanian Balamuralikrishnan, Meyyazhagan Arun, Kannan R. R. Rengasamy, Natchiappan Senthilkumar, Shanmugam Velayuthaprabhu, Muthukrishnan Saradhadevi, Palanisamy Sampathkumar, Arumugam Vijaya Anand   +9 more
openaire   +2 more sources