K
Karen Snow
Researcher at Mayo Clinic
Publications - 41
Citations - 2203
Karen Snow is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Fragile X syndrome & Population. The author has an hindex of 21, co-authored 41 publications receiving 2137 citations. Previous affiliations of Karen Snow include University of Rochester.
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Journal ArticleDOI
Length of uninterrupted CGG repeats determines instability in the FMR1 gene.
Evan E. Eichler,Jeanette J. A. Holden,Bradley W. Popovich,Allan L. Reiss,Karen Snow,Stephen N. Thibodeau,C. Sue Richards,Patricia A. Ward,David L. Nelson +8 more
TL;DR: Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3′ end.
Journal Article
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
TL;DR: Describing a CGG repeat at the FMR-1 locus in more than 100 families presenting for fragile X testing and in 247 individuals from the general population suggests that the frequency of unstable alleles in the generalpopulation may be approximately 1%.
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Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Walter D. Park,John F. O'Brien,Patrick A. Lundquist,Daniel L. Kraft,Cate Walsh Vockley,Pamela S. Karnes,Marc C. Patterson,Karen Snow +7 more
TL;DR: Mutation analysis on samples from 143 unrelated affected NPC patients is described using conformation sensitive gel electrophoresis and DNA sequencing as the primary mutation screening methods for NPC1 and NPC2, respectively, which raise the possibilities of an additional NPC complementation group(s) or non‐specificity of the biochemical testing for NPC.
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Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation
TL;DR: Results suggest that evolution of fragile X full mutations could involve 4 definable stages: 1) ancestral events leading to the formation of predisposing alleles which have large total repeat length (e.g. between 35 to 50) but no AGG or 1 AGG; 2) gradual slippage of these predisposingalleles to small premutations (S alleles); 3) conversion from S alleles to larger premutations; 4) massive expansion from a Z allele to a full mutation
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Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1
Xiaofeng Sun,David L. Marks,Walter D. Park,Christine L. Wheatley,Vishwajeet Puri,John F. O'Brien,Daniel L. Kraft,Patrick A. Lundquist,Marc C. Patterson,Richard E. Pagano,Karen Snow +10 more
TL;DR: It is demonstrated that NPC-variant fibroblast samples can be detected as sphingolipid storage disease cells, using a fluorescent sphingoipid analog, BODIPY-lactosylceramide, and found that 5 of the 12 variant cell samples had no apparent defect in NPC1 but were otherwise indistinguishable from other variant cells.