Phenotypic Modifiers
Mostrando 1-12 de 16 artigos, teses e dissertações.
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1. Genetics of osteoporosis: searching for candidate genes for bone fragility
ABSTRACT The pathogenesis of osteoporosis, a common disease with great morbidity and mortality, comprises environmental and genetic factors. As with other complex disorders, the genetic basis of osteoporosis has been difficult to identify. Nevertheless, several approaches have been undertaken in the past decades in order to identify candidate genes for bone
Arch. Endocrinol. Metab.. Publicado em: 2016-08
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2. Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations
Clinics. Publicado em: 2012
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3. Identificação de moduladores genéticos em uma grande família com neoplasia endócrina múltipla (NEM1) / Identification of modifying genetic fatctors in a large family with multiple endocrine neoplasia type 1
A Neoplasia endócrina múltipla tipo 1 (NEM1; OMIM 131100) é uma síndrome endócrina hereditária, que envolve tumores nas glândulas paratireóides, pâncreas endócrino/duodeno e hipófise. Mutações germinativas no gene supressor de tumor MEN1 são identificadas em aproximadamente 80% dos casos familiais. Os casos restantes podem apresentar grandes de
Publicado em: 2011
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4. Study of modulators genes associated to mutations in mitochondrial genes in individuals with non-syndromic deafness / Estudos de genes moduladores associados a mutações em genes mitocondriais em individuos com surdez não-sindromica
Hearing loss is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with aminoglycos
Publicado em: 2009
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5. Genetic Modifiers of the Phenotypic Level of Deoxyribonucleic Acid-Conferred Novobiocin Resistance in Haemophilus
Leidy, Grace (Columbia University, New York, N.Y.), Iris Jaffee, and Hattie E. Alexander. Genetic modifiers of the phenotypic level of deoxyribonucleic acid-conferred novobiocin resistance in Haemophilus. J. Bacteriol. 92:1464–1468. 1966.—An apparent increase in novobiocin resistance in Haemophilus aegyptius after a second exposure to a particular H. inf
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6. Dominance Modifiers in NEUROSPORA CRASSA: Phenocopy Selection and Influence on Certain Ascus Mutants
When homozygous in zygotes, mutant alleles at the peak locus in linkage group V of Neurospora crassa initiate aberrant asci that are nonlinear, in contrast to the linear asci characteristic of wild type. Most mutant alleles are recessive, inasmuch as crosses of the mutant strains with wild type give linear asci. However, five different mutant alleles, when h
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7. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes
The del22q11 syndrome is associated with a highly variable phenotype despite the uniformity of the chromosomal deletion that causes the disease in most patients. Df1/+ mice, which model del22q11, present with reduced penetrance of cardiovascular defects similar to those seen in deleted patients but not with other del22q11-like findings. The reduced pen
The National Academy of Sciences.
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8. Partial Revertants of the Transposable Element-Associated Suppressible Allele White-Apricot in Drosophila Melanogaster: Structures and Responsiveness to Genetic Modifiers
The eye color phenotype of white-apricot (w(a)), a mutant allele of the white locus caused by the insertion of the transposable element copia into a small intron, is suppressed by the extragenic suppressor suppressor-of-white-apricot (su(w(a))) and enhanced by the extragenic enhancers suppressor-of-forked su(f)) and Enhancer-of-white-apricot (E(w(a))). Deriv
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9. Detection of simple polygenic segregations in a natural population
Penetrance frequencies were used to quantify segregating polygenic effects in a natural population of Drosophila melanogaster. When males from a series of 100 isofemale strains were crossed to females from a veinlet (ve) line that had been selected for shortened veins, gaps commonly appeared in the fifth longitudinal (L5) vein in the ve/+ heterozygotes. We w
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10. A Tripartite Interaction among Alleles of Notch, Delta, and Enhancer of Split during Imaginal Development of Drosophila Melanogaster
A dramatic example of a phenotypic interaction that involves neurogenic loci during Drosophila imaginal development is the synergistic impact of split (spl), a recessive allele of the Notch locus, and E(spl)(D), a dominant gain-of-function allele of the Enhancer of split locus, on morphogenesis of the compound eye. Screens for mutations that relieve the enha
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11. Genetic Localization of Interacting Modifiers Affecting Severity in a Murine Model of Polycystic Kidney Disease
Genetic analysis of mouse disease models provides a means to investigate how modifying loci cause variation in phenotypic expression. We have shown that polycystic kidney disease (PKD) progression in the juvenile cystic kidney (jck) mutation can be influenced by an epistatic interaction between alleles of different strain backgrounds and we localized one of
Cold Spring Harbor Laboratory Press.
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12. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 750 NF1 patients from 275 multiplex families collected throu
Oxford University Press.