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Phenotypic Expansion Illuminates Multilocus Pathogenic Variation
Genetics in Medicine, 2018 Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in ...
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Hsp90 as a capacitor of phenotypic variation
Nature, 2002Heat-shock protein 90 (Hsp90) chaperones the maturation of many regulatory proteins and, in the fruitfly Drosophila melanogaster, buffers genetic variation in morphogenetic pathways. Levels and patterns of genetic variation differ greatly between obligatorily outbreeding species such as fruitflies and self-fertilizing species such as the plant ...
Christine, Queitsch +2 more
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Phenotype variations in Gaucher disease
La Revue de Médecine Interne, 2006The Gaucher phenotype is very complex and it cannot be simply evaluated on the basis of blood counts or splenomegaly, but by the analysis of all disease compartments. To establish the diagnosis of Gaucher disease, biochemical assay of glucocerebrosidase activity is the most reliable method.
P, Mistry, D P, Germain
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CYSTIC FIBROSIS: GENOTYPIC AND PHENOTYPIC VARIATIONS
Annual Review of Genetics, 1995Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene product, named cystic fibrosis transmembrane conductance regulator (CFTR), corresponds to a cAMP-regulated chloride channel found almost exclusively in the secretory epithelial
Zielenski, J, Tsui, LC
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Identical mutations and phenotypic variation
Human Genetics, 1997The relationship between pathogenetic mutations and disease phenotype is becoming increasingly complex. Well-delineated clinical entities can be genetically heterogeneous, and mutations in a particular gene may result in fundamental clinical differences.
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Phenotypical variations of tritanopia
Vision Research, 1966Abstract The colorimetric investigation of six tritans is reported. The tritans are all members of the one family and three have been shown to be tritanopes. The other three tritans are trichromatic and have a defect which could be diagnosed as tritanomaly. It is postulated on the basis of this result and an examination of the tritanomals reported in
B.L. Cole, G.H. Henry, J. Nathan
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Phenotypic variation in Meckel syndrome
Clinical Genetics, 1981Four sibs are described with Meckel syndrome, an autosomal recessive disorder with multiple abnormalities. Each sib manifested only two of the three cardinal signs of Meckel syndrome ‐ encephalocoele and polycystic kidneys, lacking Polydactyly. The literature is examined to assess the phenotypic variation of the condition: 57 % of cases have all the ...
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Phenotypic variation in the popliteal pterygium syndrome
Clinical Genetics, 1973At least 47 cases of the popliteal pterygium syndrome have been reported in the literature. Of these, 27 affected individuals were multiplex cases occurring in 10 families, while 20 were isolated cases: both dominant and recessive inheritance Of the trait have been proposed.
D, Bixler, C, Poland, W E, Nance
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Intra familial phenotypical variations in adrenoleukodystrophy
Neurology India, 2010Adrenoleukodystrophy (ALD) is an X-linked recessively inherited peroxisomal disorder, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. It has a wide phenotypical variability ranging from symptomatic childhood cerebral form to the asymptomatic with biochemical defects only; sometimes
Gosalakkal, Jayaprakash +1 more
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Networks of phenotypic variation
Science, 2018Evolution Evolution depends on phenotypic variation. Gene regulatory networks are theoretically expected to be likely sources of variation. Schaerli et al. explored how the structure of gene regulatory circuits contributes to the range of mutant phenotypes that are produced.
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