Results 11 to 20 of about 6,098 (217)
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
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
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
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 +4 more
doaj +1 more source
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 +7 more
doaj +1 more source
Emerging Infectious Diseases, 2001 The use of polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) to study rpoB gene mutations in rifampin-resistant (RIFr) Mycobacterium tuberculosis has yielded contradictory results.
Miriam Bobadilla-del-Valle +8 more
doaj +1 more source
BMC Cancer, 2005 Background The role of genes involved in the control of progression from the G1 to the S phase of the cell cycle in melanoma tumors in not fully known.
López-Nevot Miguel +3 more
doaj +1 more source
BioTechniques, 1996 Mitochondrial DNA (mtDNA) mutations have been implicated in an increasing number of human diseases. Many of these mutations are heteroplasmic and are only present at low levels in readily accessible human tissue such as blood.
Emma J. Sherratt +3 more
doaj +1 more source