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561
An Efficient Genome Fragment Assembling Using GA with Neighborhood Aware Fitness Function
Published 2012-01-01“…In the proposed GA, the length of the chromosome, which represents the volume of the search space, is reduced with advancing generations, and thereby improves search efficiency. …”
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562
Antioxidant Functions of Nitric Oxide Synthase in a Methicillin Sensitive Staphylococcus aureus
Published 2013-01-01“…However certain Gram positive bacteria including Staphylococcus aureus possess a gene encoding nitric oxide synthase (SaNOS) in their chromosome. In this study it was determined that under normal growth conditions, expression of SaNOS was highest during early exponential phase of the bacterial growth. …”
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563
Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever
Published 2016-01-01“…The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. …”
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564
A Case of Clitoral Hypertrophy of Unknown Origin
Published 2018-01-01“…Various tests were performed. Sex chromosome or hormonal abnormalities and tumorous lesions were not detected, and the ovaries, uterus, and vagina were normal, indicating that disorders of mullerian development were negative. …”
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565
HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell
Published 2017-01-01“…Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). …”
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566
Trichoscopy in Unveiling the Triad of Netherton Syndrome
Published 2025-01-01“…Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) gene located on chromosome 5q31–32. Here, we present a case of a 16-year-old female born to second-degree consanguineous marriage who presented with a history of atopy, generalized xerosis, plaques with serpiginous borders, and double-edged scales over the trunk, upper and lower limbs, lichenification in flexures, sparse eyelashes, and eyebrows predominantly over lateral half was noted. …”
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567
Cloning a Chloroplast Genome in Saccharomyces cerevisiae and Escherichia coli
Published 2025-01-01“…Prior to our work, the chloroplast genomes of Chlamydomonas reinhardtii (204 kb) and Zea mays (140 kb) had been cloned using bacterial and yeast artificial chromosome (BAC/YAC) libraries, respectively. These methods lack design flexibility as they are reliant upon the random capture of genomic fragments during BAC/YAC library creation; additionally, both demonstrated a low efficiency (≤ 10%) for correct assembly of the genome in yeast. …”
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568
Repeated Long-Term DT Application in the DEREG Mouse Induces a Neutralizing Anti-DT Antibody Response
Published 2016-01-01“…Genetic tools exploiting the foxp3 locus including bacterial artificial chromosome- (BAC-) transgenic DEpletion of REGulatory T cells (DEREG) mice have provided essential information on Treg biology and the potential therapeutic modulation of tolerance. …”
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569
Plant Regeneration and Cellular Behaviour Studies in Celosia cristata Grown In Vivo and In Vitro
Published 2012-01-01“…It was observed that Mitotic Index (MI), mean chromosome numbers, and mean nuclear to cell area ratio of in vitro root meristem cells were slightly higher compared to in vivo values. …”
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570
Some Effective Tight-Binding Models for Electrons in DNA Conduction: A Review
Published 2010-01-01“…In addition, we investigated the localization properties of electronic states in several actual DNA sequences such as bacteriophages of Escherichia coli, human-chromosome 22, compared with those of the artificial disordered sequences with correlation. …”
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571
Iron-regulatory liver hormone hepcidin and its place in the system of congenital immunity
Published 2010-11-01“…Hepcidin is coded by HAMP gene (Hepcidin Antimicrobial Peptide) in chromosome 19. Expression peptide mRNA in hepatocytes is induced by proinflammatory cytokines (IL-1α, IL-6 and TNF-α) similar to acute phase proteins of inflammation, and also by liver iron overload. …”
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572
Meiosis-specific stable binding of augmin to acentrosomal spindle poles promotes biased microtubule assembly in oocytes.
Published 2013-06-01“…The level of Augmin accumulated at spindle poles is well correlated with the degree of chromosome congression. Fluorescence recovery after photobleaching shows that Augmin stably associates with the polar regions of the spindle in oocytes, unlike in mitotic cells where it transiently and uniformly associates with the metaphase spindle. …”
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573
A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
Published 2015-01-01“…The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.…”
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574
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
Published 2017-01-01“…Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. …”
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575
Genome Sequence of Colistin-Resistant Bacteremic Shewanella algae Carrying the Beta-Lactamase Gene blaOXA-55
Published 2019-01-01“…Here, we report the results of the whole-genome sequencing of colistin-resistant S. algae TYL, a blood isolate. Chromosome-encoded pmrC associated with colistin resistance and blaOXA-55 gene intrinsic to S. algae was identified. …”
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576
Glycated Serum Protein Genetics and Pleiotropy with Cardiometabolic Risk Factors
Published 2019-01-01“…We localized a significant (LOD score=3.18) and novel GSP QTL on chromosome 11q, which has been previously linked to type 2 diabetes. …”
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577
Clinical And Molecular-Genetic Features Of Congenital Aniridia
Published 2018-07-01“…<br> <br> <b>Key words:</b> congenital aniridia, PAX6 mutations, chromosome region 11p13 deletions, relationships between mutation type and clinical trait.…”
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578
ATX-2, the C. elegans Ortholog of Human Ataxin-2, Regulates Centrosome Size and Microtubule Dynamics.
Published 2016-09-01“…As cells progress to mitosis, centrosomes recruit more microtubules (MT) to form mitotic bipolar spindles that ensure proper chromosome segregation. We report a new role for ATX-2, a C. elegans ortholog of Human Ataxin-2, in regulating centrosome size and MT dynamics. …”
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579
Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination.
Published 2011-07-01“…Approximately 60% of patients who suffer from it carry chromosome 17 duplication, which is why it has been considered very appropriate to convey the experience of this case.…”
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580
Expression of Four Methionine Sulfoxide Reductases in Staphylococcus aureus
Published 2012-01-01“…To determine the expression pattern of msr genes, three independent reporter strains were constructed where msr promoter was cloned in front of a promoterless lacZ and the resulting construct was integrated in the chromosome. Using these strains, it was determined that the msrA1/B expression is significantly higher in S. aureus compared to msrA2 or msrA3. …”
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