Results 41 to 50 of about 42,921 (251)

Perbedaan Kadar Alpha 1 Antitrypsin Feses Berdasarkan Tingkat Keparahan Diare Akut pada Anak

open access: yesSari Pediatri, 2018
Latar belakang. Diare dapat menyebabkan kekurangan gizi, gangguan pertumbuhan dan gangguan kognitif. Gangguan gizi dapat terjadi karena asupan makanan yang kurang, atau kehilangan langsung karena kerusakan mukosa usus.
Fitriyana Fitriyana   +2 more
doaj   +1 more source

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

open access: yesAdvanced Materials, EarlyView.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode   +16 more
wiley   +1 more source

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

open access: yesGE: 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   +3 more
doaj   +1 more source

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

open access: yesAdvanced 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   +15 more
wiley   +1 more source

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

open access: yesInternational 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   +3 more
doaj  

Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity

open access: yesAdvanced Science, EarlyView.
Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu   +5 more
wiley   +1 more source

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

open access: yes, 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

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka   +4 more
wiley   +1 more source

An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z [PDF]

open access: yes, 2019
The classical form of α1-antitrypsin deficiency (ATD) is characterized by intracellular accumulation of the misfolded variant α1-antitrypsin Z (ATZ) and severe liver disease in some of the affected individuals.
Andrew S. Chu (6256490)   +12 more
core   +3 more sources

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

open access: yesMonaldi 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   +7 more
doaj   +1 more source

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