Results 11 to 20 of about 20,043 (225)

Single-Strand Conformation Polymorphism Fingerprint Method for Dictyostelids [PDF]

Frontiers in Microbiology, 2021
Dictyostelid social amoebae are a highly diverse group of eukaryotic soil microbes that are valuable resources for biological research. Genetic diversity study of these organisms solely relies on molecular phylogenetics of the SSU rDNA gene, which is not ideal for large-scale genetic diversity study.
Phongthana Pasookhush, Asmatullah Usmani, Asmatullah Usmani, Kowit Suwannahong, Prasit Palittapongarnpim, Prasit Palittapongarnpim, Kamolchanok Rukseree, Kanchiyaphat Ariyachaokun, Sureemas Buates, Suradej Siripattanapipong, Pravech Ajawatanawong   +10 more
openaire   +3 more sources

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

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, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +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, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

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, Katalin Illes, Leonard L. Bailey, Aladar A. Szalay   +3 more
doaj   +1 more source

Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding [PDF]

, 2010
Transmissible spongiform encephalopathies, or prion diseases, are caused by misfolding and aggregation of the prion protein PrP. These diseases can be hereditary in humans and four of the many disease-associated missense mutants of PrP are in the ...
Daggett, Valerie, van der Kamp, Marc W
core   +2 more sources

Chromosome 17 abnormalities and mutation of the TP53 gene: correlation between cytogenetics, flow cytometry and molecular analysis in three cases of chronic myeloid leukemia

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, Geraldo Barroso Cavalcanti Júnior, Claudete Esteves Klumb, Marcos Antonio Mauricio Scheiner, Eliane Pereira Simões Magluta, Teresa de Souza Fernandez, Maria Luiza Macedo Silva, Virgínia Pires, Gabriela Vasconcelos Andrade, Raquel Ciuvalschi Maia, Daniel Tabak   +10 more
doaj   +1 more source

Identification of more than two paternal haplotypes of the ovine fatty acid-binding protein 4 (FABP4) gene in half-sib families: evidence of intragenic meiotic recombination. [PDF]

PLoS ONE, 2014
The fatty acid binding protein 4 (FABP4) plays an important role in the regulation of lipid metabolism in mammals. In this study, two regions of ovine FABP4 spanning exon 2-intron 2 and exon 3-intron 3 were investigated in four hundred and twenty lambs ...
Wei Yan, Huitong Zhou, Yuzhu Luo, Jiang Hu, Jon G H Hickford   +4 more
doaj   +1 more source

Nucleic acid stain-dependent single strand conformation polymorphisms [PDF]

BioTechniques, 2004
Single strand conformational poly-morphism (SSCP) is a mobility shift analysis of single-stranded DNA (ss-DNA) by nondenaturing polyacryl-amide gel electrophoresis to detect DNA sequence polymorphisms (1). Typical SSCP protocols detect single strands by autoradiography (2–4) or by treatment with a DNA stain after electrophoresis (5–12).
David R. McKee, M. Scott Thomson
openaire   +3 more sources

High-Throughput Asymmetric-PCR SSCP Analysis Using Well-Controlled Temperature Conditions

BioTechniques, 1996
Single-stranded conformational polymorphism (SSCP) analysis is useful for mutation detection and polymorphism identification. To realize high-throughput SSCP analysis using a high-intensity electric field, the gel temperature must be well-controlled.
Masaharu Kiyama, Takeshi Fujita
doaj   +1 more source

Experiencia inicial de detección de mutaciones en biopsia tumoral y líquida de pacientes con adenocarcinoma pulmonar

Revista Médica Clínica Las Condes, 2022
Resumen: Introducción: : El adenocarcinoma es actualmente el tipo más común de cáncer de pulmón. Las mutaciones en EGFR son predictivas de respuesta a TKI y son mutuamente excluyentes con mutaciones en KRAS.
José Miguel Clavero, Mauricio Moreno, Tania Quiroz, Marcela Figueroa, Álvaro Ibarra, David Lazo, Patricio Rodríguez, Claudia Hurtado   +7 more
doaj   +1 more source