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FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile
(Blackwell Publishing Ltd, 2014)
© 2013 John Wiley & Sons A/S. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, ...
Nonsense-Associated Alternative Splicing of the Human Thyroglobulin Gene
(Springer, 2012-12-01)
Introduction: We have described in previous articles a nonsense mutation (4588C>T, R1511X) in exon 22 of the thyroglobulin (TG) gene in a member of a family with a complex history of congenital goiter. In the mutated thyroid ...
Expanding the benefits of Tnt1 for the identification of dominant mutations in polyploid crops: A single allelic mutation in the MsNAC39 gene produces multifoliated alfalfa
(Frontiers Media, 2022-04)
Most major crops are polyploid species and the production of genetically engineered cultivars normally requires the introgression of transgenic or gene-edited traits into elite germplasm. Thus, a main goal of plant research ...
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid shingomyelianse deficiency
(2016)
Niemann-Pick disease (NPD) type A and B are recessive hereditary disorders caused by deficiency in acid sphingomyelinase (ASM). The p.A1a359Asp mutation has been described in several patients but its functional and structural ...
Sexual selection and inbreeding: Two efficient ways to limit the accumulation of deleterious mutations
(Wiley-Blackwell, 2019-02)
Theory and empirical data showed that two processes can boost selection against deleterious mutations, thus facilitating the purging of the mutation load: inbreeding, by exposing recessive deleterious alleles to selection ...
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency
(Elsevier, 2016)
Niemann-Pick disease (NPD) type A and B are recessive hereditary disorders caused by deficiency in acid sphingomyelinase (ASM). The p.A1a359Asp mutation has been described in several patients but its functional and structural ...
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis
(Amer. Assoc. Clinical Chemistry, 2016)
BACKGROUND: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, ...
Molecular characterization of a region of DNA associated with mutations at the agouti locus in the mouse
(1991-09-15)
Molecular characterization of a radiationinduced
agouti (a)-locus mutation has resulted in the isolation
of a segment of DNA that maps at or near the a locus on
chromosome 2 in the mouse. This region of DNA is deleted ...