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CDK-mediated Yku80 phosphorylation regulates the balance between non-homologous end joining (NHEJ) and homologous directed recombination (HDR)
(Elsevier, 2020)
There are two major pathways for repairing DNA double-strand breaks (DSBs): homologous directed recombination (HDR) and non-homologous end-joining (NHEJ). While NHEJ functions throughout the cell cycle, ...
A two-base deletion in exon 6 of the 3-hydroxy-3- methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria
(Elsevier, 1997)
A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ...
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
(Oxford University Press, 2009)
Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two ...
The use of ultrasonography to evaluate muscle thickness and subcutaneous fat in children and adolescents with cystic fibrosis
(Sociedade de Pediatria de São Paulo, 2018)
Objective: To compare muscle thickness and subcutaneous fat in cystic fibrosis (CF) patients and healthy controls using ultrasonography (US), and to correlate US findings with nutritional, clinical and ...
RICH (Rapidly Involuting Congenital Hemangioma) with fetal involution
(ACT Publishing Group Limited, 2019-12)
A term newborn was evaluated for the presence of a lesion resembling an involuting hemangioma; dermoscopy showed some residual ectasic capillaries, consistent with the diagnosis. At 5 months, lesion ...
Atypical cyclin P regulates cancer cell stemness through activation of the WNT pathway
(Springer Nature, 2021)
Purpose: Cancer stem cells represent a cancer cell subpopulation that has been found to be associated with metastasis and chemoresistance. Therefore, it is vital to identify mechanisms regulating cancer ...
A 3-dimensional histology computer model of malignant melanoma and its implications for digital pathology
(Elsevier, 2023)
Background: Historically, cancer diagnoses have been made by pathologists using two-dimensional histological slides. However, with the advent of digital pathology and artificial intelligence, slides are ...
Novel nanostructured lipid carriers loading Apigenin for anterior segment ocular pathologies
(Elsevier, 2024)
Dry eye disease (DED) is a chronic multifactorial disorder of the ocular surface caused by tear film dysfunction and constitutes one of the most common ocular conditions worldwide. However, its treatment ...
Association of clinical signs, host biomarkers and etiology with radiological pneumonia in bhutanese children
(Sage Journals, 2022)
Diagnosing pneumonia and identifying those requiring antibiotherapy remain challenging. Chest radiographs (CXR) are often used as the reference standard. We aimed to describe clinical characteristics, ...
Tractament fascial en l'esport. Revisió bibliogràfica
(Col·legi de fisioterapeutes de Catalunya, 2017-11)
El teixit fascial és una estructura del teixit mesenquimal d’origen mesodèrmic, que es desenvolupa de manera simultània al teixit muscular. Forma un teixit viscoelàstic, funcional i tridimensional, ...