Results 41 to 50 of about 42,921 (251)
Perbedaan Kadar Alpha 1 Antitrypsin Feses Berdasarkan Tingkat Keparahan Diare Akut pada Anak
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
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
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
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
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
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]
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
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]
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
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

