Results 71 to 80 of about 11,907 (228)

CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans [PDF]

open access: yes, 2019
Due to its ease of genetic manipulation and transparency, Caenorhabditis elegans (C. elegans) has become a preferred model system to study gene function by microscopy.
Buland, Justin R   +14 more
core   +3 more sources

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

Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center

open access: yesRespiratory Medicine Case Reports, 2021
Alpha 1 Antitrypsin Deficiency (AATD) is a rare condition primarily associated with lung complications and liver disease. As disease symptoms are similar to those in other respiratory conditions, patients generally experience long delays before receiving
Friedrich Kueppers
doaj   +1 more source

Does urinary peptide content differ between COPD patients with and without inherited alpha-1 antitrypsin deficiency? [PDF]

open access: yes, 2017
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also ...
Carleo, Alfonso   +7 more
core   +2 more sources

Gross Intrahepatic Mass Formation Predicts the Primary Site of Perihilar Cholangiocarcinoma Based on Molecular Pathologic Studies

open access: yesJournal of Hepato-Biliary-Pancreatic Sciences, EarlyView.
ABSTRACT Background/Purpose Intrahepatic cholangiocarcinoma (iCCA) and extrahepatic cholangiocarcinoma (eCCA) are clinically and genetically distinct. However, the classification of perihilar cholangiocarcinoma (phCCA) with an intrahepatic tumor mass remains unclear.
Yuki Masuda   +9 more
wiley   +1 more source

Dynamic Expression Pattern of SERPINA1 Gene from Duck (Anas platyrhynchos)

open access: yesBioMed Research International, 2019
SERPINA1 is a member of serine protease inhibitors and is increasingly considered to be a regulator of innate immunity in human and animals. However, the expression and function of SERPINA1 gene in immune defense against viral infection remain unknown in ducks.
Tiantian Gu   +8 more
openaire   +2 more sources

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

open access: yesGenetics 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   +11 more
doaj   +1 more source

Biomarkers for diagnosis of pre-eclampsia and endometriosis [PDF]

open access: yes, 2018
Gynecological disorders are leading public health problems in developing countries with substantial impact on women's quality of life. Significant proportion of maternal mortality and reproductive morbidity is attributed to misdiagnosis ...
Ali, Amjad   +6 more
core   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

open access: yesMass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik   +3 more
wiley   +1 more source

SERPINA1 methylation and lung function in tobacco-smoke exposed European children and adults: a meta-analysis of ALEC population-based cohorts

open access: yesRespiratory Research, 2018
Background The pathophysiological role of SERPINA1 in respiratory health may be more strongly determined by the regulation of its expression than by common genetic variants.
Anna Beckmeyer-Borowko   +22 more
doaj   +1 more source

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