Results 61 to 70 of about 480,558 (290)

A Protein‐Centric Strategy Coupled with Match‐Between‐Run Glycoproteomics Enables Discovery of Robust Site‐Specific Glycan Biomarkers for Hepatocellular Carcinoma

Advanced Science, EarlyView.
In this study, a highly robust N‐glycoproteomics (HRN) platform with a newly developed match‐between‐run scheme is used for biomarker discovery. This study proposes a protein‐centric strategy to prioritize proteins susceptible to aberrant glycosylation.
Lei Liu, Taiheng Ma, Qi Liu, He Zhu, Zheng Fang, Jiahong Ma, Ting Yu, Yan Wang, Jiahua Zhou, Xiaoyan Liu, Yaqian Li, Zhimou Guo, Xinmiao Liang, Mingming Dong, Deguang Sun, Mingliang Ye   +15 more
wiley   +1 more source

Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency

GE: Portuguese Journal of Gastroenterology, 2023
Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene. The homozygous Pi*Z variant is responsible for the majority of the classic severe form of alpha-1 antitrypsin deficiency ...
Nélia Abreu, Vítor Magno Pereira, Madalena Pestana, Luís Jasmins   +3 more
doaj   +1 more source

The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency: The Association Between Diagnostic Delay and Worsened Clinical Status

Respiratory care, 2019
BACKGROUND: Alpha-1 antitrypsin deficiency is frequently underrecognized. Individuals with symptoms often experience long diagnostic delays. Although a delayed diagnosis is logically presumed to be associated with adverse effects, confirmatory evidence ...
V. Tejwani, A. Nowacki, Erica Fye, C. Sanders, J. Stoller   +4 more
semanticscholar   +1 more source

ERAD Component MoHrd3 Facilitates Pathogenicity and Establishes a Direct Regulation on Autophagy in Magnaporthe Oryzae

Advanced Science, EarlyView.
MoHrd3 plays a crucial role in regulating the pathogenicity of Magnaporthe oryzae. As an ER‐associated degradation component, MoHrd3 involves in ER stress‐triggered autophagy. It facilitates the fusion between the autophagosome and the vacuole via enhancing the interaction between MoAtg8 and MoYpt7.
Huiqing Xia, Yunna Zheng, Nan Yang, Jing Chen, Xi Wu, Ximing Zheng, Danrui Cui, Ruijin Wang, Xunli Lu, Dongli Wang, You‐liang Peng, Qian Chen   +11 more
wiley   +1 more source

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

International Journal of COPD, 2020
Kylie BR Belchamber,1 Eloise M Walker,1 Robert A Stockley,1 Elizabeth Sapey1,2 1Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; 2NIHR Clinical Research Facility Birmingham, University ...
Belchamber KBR, Walker EM, Stockley RA, Sapey E   +3 more
doaj  

Severe bilateral descemetoceles in Alpha-1 antitrypsin deficiency. [PDF]

, 2019
PurposeTo report a case of severe bilateral descemetoceles in a patient with alpha-1 antitrypsin (A1AT) deficiency during intensive care unit hospitalization.ObservationsA 42-year-old male presented with sub-acute bilateral vision loss during an ...
Baqai, Jeanine, Ma, Jeffrey
core   +1 more source

The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency

European Respiratory Journal, 2019
Alpha-1 antitrypsin deficiency (AATD) is a common but under-recognised genetic condition that affects approximately 1 in 2000 to 1 in 5000 individuals and predisposes to early-onset emphysema and liver disease [1].
M. Miravitlles, J. Chorostowska-Wynimko, I. Ferrarotti, N. McElvaney, K. O'hara, J. Stolk, R. Stockley, A. Turner, Marion Wilkens, T. Greulich   +9 more
semanticscholar   +1 more source

Severe Occupational Hypersensitivity Pneumonitis: A Case Series of Four Patients Requiring Lung Transplantation

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Hypersensitivity pneumonitis (HP) is an immune‐mediated interstitial lung disease triggered by repeated inhalation of organic or chemical antigens. Occupational exposures account for approximately 19% of all cases. Early diagnosis, identification of the responsible antigen(s), and immediate avoidance of exposure are crucial to prevent ...
Ludwig Frei‐Stuber, Judith Mohren, Ester Mau, Bernhard Werner, Rudolf A. Hatz, Jürgen Barton, Dennis Nowak   +6 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Long-term augmentation therapy with Alpha-1 Antitrypsin in an MZ-AAT severe persistent asthma

Monaldi Archives for Chest Disease, 2016
A young Caucasian female with severe bronchial asthma and Alpha1-antitrypsin (AAT) deficiency, MZ phenotype, experienced a quick and severe limitation of her physical capacity, which negatively affected her psychological state and social life, though she
I. Blanco, H. Canto, J. Flóres, C. Camblor, V. Cárcaba, F.J. de Serres, S. Janciauskiene, E.F. Bustillo   +7 more
doaj   +1 more source