Results 31 to 40 of about 20,043 (225)

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome

open access: yesJournal of the Formosan Medical Association, 2013
Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes
Mona L. Essawi   +5 more
doaj   +1 more source

Software for Machine-Independent Quantitative Interpretation of SSCP in Capillary Array Electrophoresis (QUISCA)

open access: yesBioTechniques, 2002
PCR single-stranded conformational polymorphism (SSCP) analysis is a simple and rapid electrophoretic technique for the sensitive detection of sequence variants of PCR products.
Koichiro Higasa   +3 more
doaj   +1 more source

Conformational profiling of a G-rich sequence within the c-KIT promoter [PDF]

open access: yes, 2017
G-quadruplexes (G4) within oncogene promoters are considered to be promising anticancer targets. However, often they undergo complex structural rearrangements that preclude a precise description of the optimal target.
Chaires, Jonathan B   +4 more
core   +1 more source

Mitochondrial variability in the D-loop of four equine breeds shown by PCR-SSCP analysis

open access: yesGenetics and Molecular Biology, 2002
A fragment of 466 base pairs from a highly variable peripheral region of the mitochondrial D-loop of horses was amplified and analyzed by single stranded conformational polymorphism (SSCP).
Patricia M. Mirol   +2 more
doaj   +1 more source

Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits

open access: yesAnimals, 2023
The Cashmere goat is an excellent local goat breed in Gansu Province of China, and it is expected to improve cashmere production and cashmere quality through selection and breeding to enhance its commercial value.
Zhanzhao Chen   +7 more
doaj   +1 more source

Integrative Approaches for DNA Sequence‐Controlled Functional Materials

open access: yesAdvanced Functional Materials, EarlyView.
DNA is emerging as a programmable building block for functional materials with applications in biomimicry, biochemical, and mechanical information processing. The integration of simulations, experiments, and machine learning is explored as a means to bridge DNA sequences with macroscopic material properties, highlighting current advances and providing ...
Aaron Gadzekpo   +4 more
wiley   +1 more source

Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients [PDF]

open access: yesMajallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a various collection of heart diseases with autosomal dominant inheritance affecting 0.2% of the global population.
Behnaz Sadat Abedi   +4 more
doaj  

DNA Methylation: A Profile of Methods and Applications

open access: yesBioTechniques, 2002
Ever since methylcytosine was found in genomic DNA, this epigenetic alteration has become a center of scientific attraction, especially because of its relation to gene silencing in disease.
Mario F. Fraga, Manel Esteller
doaj   +1 more source

Variation in KRTAP6-1 affects wool fibre diameter in New Zealand Romney ewes [PDF]

open access: yesArchives Animal Breeding, 2019
Variation in KRTAP6-1 has been reported to affect wool fibre traits in Merino cross-breed sheep and Chinese Tan sheep, but little is known about whether these effects persist in other breeds.
W. Li   +16 more
doaj   +1 more source

The role of packaging sites in efficient and specific virus assembly

open access: yes, 2015
During the lifecycle of many single-stranded RNA viruses, including many human pathogens, a protein shell called the capsid spontaneously assembles around the viral genome. Understanding the mechanisms by which capsid proteins selectively assemble around
Hagan, M. F., Perlmutter, J. D.
core   +1 more source

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