Results 11 to 20 of about 19,674 (236)
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk
Hepatology, EarlyView., 2022 The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam +10 more
wiley +1 more source
New insights into the biological role of mammalian ADARs; the RNA editing proteins [PDF]
, 2015 The ADAR proteins deaminate adenosine to inosine in double-stranded RNA which is one of the most abundant modifications present in mammalian RNA.
Arieti, Fabiana +4 more
core +2 more sources
Ras gene mutations in patients with non-small cell lung carcinoma [PDF]
Archive of Oncology, 2004 BACKGROUND: Lung cancer is the leading cause of cancer mortality in most countries, with every year's increasing incidence. At present, surgical resection of early stage disease presents the only treatment associated with a high likelihood of 5-year ...
Minić Vesna +3 more
doaj +1 more source
An allelic polymorphism within the human tumor necrosis factor alpha promoter region is strongly associated with HLA A1, B8, and DR3 alleles. [PDF]
, 1993 The tumor necrosis factor (TNF) alpha gene lies within the class III region of the major histocompatibility complex (MHC), telomeric to the class II and centromeric to the class I region. We have recently described the first polymorphism within the human
DEVRIES, N. +5 more
core +2 more sources
The role of the host—Neutrophil biology
Periodontology 2000, EarlyView., 2023 Abstract Neutrophilic polymorphonuclear leukocytes (neutrophils) are myeloid cells packed with lysosomal granules (hence also called granulocytes) that contain a formidable antimicrobial arsenal. They are terminally differentiated cells that play a critical role in acute and chronic inflammation, as well as in the resolution of inflammation and wound ...
Iain L. C. Chapple +4 more
wiley +1 more source
Formation of a Unique Cluster of G-Quadruplex Structures in the HIV-1 nef Coding Region: Implications for Antiviral Activity [PDF]
, 2013 G-quadruplexes are tetraplex structures of nucleic acids that can form in G-rich sequences. Their presence and functional role have been established in telomeres, oncogene promoters and coding regions of the human chromosome.
Frasson, Ilaria +8 more
core +5 more sources
Genotyping the Baboon ABO Histo-Blood Group Locus by Two-Color Fluorescence SSCP
BioTechniques, 1999 The use of baboons in experimental medicine, especially as organ and tissue donors, would be facilitated by the availability of ABO histo-blood group O animals, which are currently rare.
David C. Diamond +3 more
doaj +1 more source
Dramatic effect of single-base mutation on the conformational dynamics of human telomeric G-quadruplex [PDF]
, 2009 Guanine-rich DNA sequences can form G-quadruplexes. These four-stranded structures are known to form in several genomic regions and to influence certain biological activities.
Lee, Ja Yil, Kim, Dai-Sik
core +1 more source
Genetics and Molecular Biology, 2005 chronic myeloid leukemia (CML) have been described. This chromosomal region contains the tumor suppressor gene TP53 that may be an important factor in the evolution of this disease. In this study, we used flow cytometry and western blotting to assess p53
Luize Otero +10 more
doaj +1 more source