genetic defect
Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis
... by genetic mutations that affect the cystic fibrosis transmembrane conductance regulator (CFTR) ...underlying genetic defect to identify a disease-modifying treatment for ...
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The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g
... Figure 3 Physical maps of the wly mutation on mouse Chr 11. (a) Molecular markers and genes on mouse Chr 11 that are linked with wly. Markers in grey (D11Mit313 and D11Mit261) have been reported by others to flank the ...
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Self induced correction of the genetic defect in tyrosinemia type I
... mosaicism of FAH protein, analysis for the tyrosinemia-causing mutations was performed in immunonegative and immunopositive areas of liver tissue by restriction digestion analysis and direct DNA sequencing. In all four ...
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Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation
... FAS defect led to uncontrolled proliferation of T and (to a lesser extent) B ...apoptosis defect may be sufficient to account for the onset of ...additional defect in the TNFRSF6 gene could be found ...
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Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man
... A deficiency of adenine phosphoribosyltransferase (A-PRTase) is described in four members in three generations of one family. A-PRTase is coded by an autosome and the mutants described in this report are heterozygotes ...
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Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?
... Once homologues are paired, the chromosomes are connected by a specific structure known as the synaptonemal complex (SC) [6]. Although SCs were first discovered more than 45 years ago, only three meiosis-specific ...
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The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts?
... (1995) Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. Goldfarb LG, Vasconcelos 0, Platonov FA, et al[r] ...
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Study of Haemoglobinopathies incidence in Ogbonicha District-Ofu LGA, Kogi State, Nigeria.
... WHO figures estimate that 5 % of the world population is carrier for haemoglobin disorders[1 ] .Haemoglobinopathies are the commonest genetic defect worldwide with an estimated 269 million carriers[2].A ...
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Evaluation of the immunogenicity and safety of different doses and formulations of a broad spectrum influenza vaccine (FLU v) developed by SEEK: study protocol for a single center, randomized, double blind and placebo controlled clinical phase IIb trial
... - Known allergy to any of the components of the vaccine - History of severe reactions following immunization - Immune deficiency/disorder, whether due to genetic defect, immunodeficiency[r] ...
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Genetic causes of aortic aneurysms Unlearning at least part of what the textbooks say
... Also, linkage studies suggested mutations in the gene for any genetic defect causing atherosclerosis or hypertension is type II procollagen in two families with osteoarthritis and a the [r] ...
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Serum HDL Cholesterol levels in young healthy population: A cross sectional study at a tertiary care centre
... Dyslipidemia is one of the most significant condition in developed countries .The prevalence is about 8-9.5% in 1990 in the urban population of India. The prevalence of lipid abnormalities in 30 years old and younger age ...
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Fetal Onset Ventriculomegaly and Subependymal Cysts in a Pyridoxine Dependent Epilepsy Patient
... Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene encoding a -aminoadipic semialdehyde dehydrogenase. The classic clinical presentation is neonatal seizures responsive only to pyridoxine ...
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A splice junction mutation causes deletion of a 72 base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease
... The genetic defect leading to cholesteryl ester storage disease (CESD) has been determined in a 12-yr-old patient. Lysosomal acid lipase (LAL) activity in cultured skin fibroblasts was reduced to ...
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An Automated Defect Prediction Framework using Genetic Algorithms: A Validation of Empirical Studies
... automated genetic defect prediction framework, with the objective to determinate the best possible learning scheme for estimate the defect proneness of a software ...
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Proteolytic activation of tick-borne encephalitis virus by furin.
... specific genetic defect causing them to lack functional furin (37, 38), were infected with TBE virus at an MOI of 10 and the protein composition of virions released from these cells 48 h after infection was ...
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Clinical factors in prosthodontic treatment of children with genetic defects
... a genetic defect, one must take many factors into account, such as the patient’s age, symptoms associated with the genetic disease and the type of dental and gnathic disorders, as well as the re- ...
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Synthetic Genetic Interactions With Temperature-Sensitive Clathrin in Saccharomyces cerevisiae: Roles for Synaptojanin-Like Inp53p and Dynamin-Related Vps1p in Clathrin-Dependent Protein Sorting at the trans-Golgi Network
... a genetic screen for mutations that display synthetic growth defects when combined with a temperature-sensitive allele of the clathrin heavy chain gene (chc1-521) in Saccharomyces ...Striking genetic ...
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Mechanism of hypercalciuria in genetic hypercalciuric rats Inherited defect in intestinal calcium transport
... 1,25(OH)2D3 there was greater calcium net flux in hypercalciuric rats than in normocalciuric controls. Hypercalciuria in this colony of hypercalciuric rats is due to a primary intestinal overabsorption of dietary calcium ...
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Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer Rokitansky Küster Hauser syndrome in co occurrence: two case reports and a review of the literature
... The organ systems affected in VACTERL association develop at different stages of organogenesis. The verte- brae develop early (23 to 32 days) in contrast to the for- mation of anorectal structures, which occur late in ...
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Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population
... This study includes one of the most comprehensive evaluations of genetic variation of the TP53 gene to date. We created a high resolution LD map by genotyping a number of individuals for 21 variants in a region ...
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