Results 31 to 40 of about 19,674 (236)

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

Journal 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, Manal F. Ismail, Hanan H. Afifi, Maha M. Kobesiy, Ahmed El Kotoury, Maged M. Barakat   +5 more
doaj   +1 more source

Sequence‐Encoded Frustration Directs the Formation of Abridged G‐Quadruplex Architectures

Angewandte Chemie, EarlyView.
Programmable frustration reshapes the free‐energy surface (FES) of guanine‐quadruplex (G4) folding, stabilizing an abridged G4 and a G‐triplex intermediate. ABSTRACT Frustration—competing interactions that cannot be simultaneously optimized—shapes energy landscapes in proteins and soft matter, but has rarely been exploited as a programmable design ...
Yuncheng Qian, Mohamed Y. Ali, Andreas I. Karsisiotis, Paul Dillon, Scarlett A. Dvorkin, Peter A. C. McPherson, Mateus Webba da Silva   +6 more
wiley   +2 more sources

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

BioTechniques, 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, Yoji Kukita, Shingo Baba, Kenshi Hayashi   +3 more
doaj   +1 more source

DNA Renaturation at the Water-Phenol Interface [PDF]

, 2003
We study DNA adsorption and renaturation in a water-phenol two-phase system, with or without shaking. In very dilute solutions, single-stranded DNA is adsorbed at the interface in a salt-dependent manner.
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core   +4 more sources

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

Genetics 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, P. Peral García, F.N. Dulout   +2 more
doaj   +1 more source

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. [PDF]

, 2004
AIMS: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia.
Burdon, Kathryn Penelope, Wirth, M Gabriela, Mackey, David A, Russell-Eggit, Isabelle M, Craig, Jamie E, Elder, James E, Dickinson, Joanne L, Sale, Michele M   +7 more
core   +1 more source

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

Animals, 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, Jian Cao, Fangfang Zhao, Zhaohua He, Hongxian Sun, Jiqing Wang, Xiu Liu, Shaobin Li   +7 more
doaj   +1 more source

Kelvin Probe Force Microscopy in Bionanotechnology: Current Advances and Future Perspectives

Advanced Materials, EarlyView.
Kelvin probe force microscopy (KPFM) enables the nanoscale mapping of electrostatic surface potentials. While widely applied in materials science, its use in biological systems remains emerging. This review presents recent advances in KPFM applied to biological samples and provides a critical perspective on current limitations and future directions for
Ehsan Rahimi, Mario Palacios‐Corella, Arjan Mol, Salvador Pané, Josep Puigmartí‐Luis   +4 more
wiley   +1 more source

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

Majallah-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, Seyedeh Zohreh kiyani, Morteza Hashemzadeh Chaleshtori, Shahrbanoo Parchami, Abbas Doosti   +4 more
doaj  

DNA Methylation: A Profile of Methods and Applications

BioTechniques, 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