2,768 research outputs found
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
No full textTwo brothers with X-linked ataxia (XLA) were found to have hypochromic red cells and increased erythrocyte protoporphyrin despite normal iron stores. The mother was unaffected by ataxia and had normal iron stores but showed evidence of some red cell hypochromia with heavy basophilic stippling that stained positive for iron. Bone marrow biopsy confirmed the presence of ring sideroblasts in one of the brothers. The absence of mutations in the ALAS2 gene and the predominance of zinc over free protoporphyrin led to a search using a combination of DNA and cDNA analysis for the presence of mutations in the ABC7 gene. ABC7 encodes a mitochondrial half-type ATP Binding Cassette transporter involved in iron homeostasis. The published cDNA sequence was used to search databases for the genomic sequence of which 12 exons spanning 23.4 kb were mapped leaving the most 5' nucleotides unaccounted for. The identified exons and their exon-intron boundaries were amplified from DNA while the most 5' sequence including the initiation codon was amplified from cDNA of peripheral blood cells. Direct sequencing revealed hemizygosity in the brothers and heterozygosity in the mother for a G-->C transversion at position 1299 of the published cDNA. This predicts a V411L substitution at the beginning of the last of six putative transmembrane regions of the protein. Restriction enzyme digestion confirmed the presence of this mutation in the three family members but could not detect it in 200 normal alleles. An uncle affected by ataxia also carried this mutation. This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome
Guidelines for Data Annotation
No full textIncluded here are a coding manual and supplementary examples of gesture forms (in still images and video recordings) that informed the coding of the first author (Kate Mesh) and four project reliability coders
Declining Unionization, Rising Inequality: an Interview with Kate Bronfenbrenner
No full textKate Bronfenbrenner is director of labor education research at the New York State School of Industrial and Labor Relations at Cornell University. She worked for many years as an organizer with the United Woodcutters Association in Mississippi and the Service Employees International Union in Boston. She is the author, co-author and editor of numerous books and articles on union strategies
Kate Richards: madness
No full textKate Richards’ bleakly beautiful, confronting and important book, Madness: A Memoir, describes her 15 years coping with psychosis and depression, and her long, hard-won journey back to sanity, with the help of a wise and compassionate psychologist.
In this video, she speaks with Ranjana Srivastava, an oncologist and fellow author, about her experience – and about being able to write from deep within it, with expertise as both a medical researcher and writer.
 
Book signing by SC author and illustrator Kate Salley Palmer
No full textPhotograph of Book signing by SC author and illustrator Kate Salley Palme
SC author and illustrator Kate Salley Palmer signing book
No full textPhotograph of SC author and illustrator Kate Salley Palmer signing boo
Replication Data for Statistical Analysis
No full textIncluded here is a dataset with gesture form coding from the study author (Kate Mesh). Statistical analysis of the dataset was performed using R version 3.6.1 (R Core Team, 2019), with the package, lmer (Bates, Maechler, Bolcher & Walker, 2015). An R script is attached for the purposes of replication.
R Core Team (2019). R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. URL https://www.R-project.org/.
Douglas Bates, Martin Maechler, Ben Bolker, Steve Walker (2015). Fitting Linear Mixed-Effects Models Using lme4. Journal of Statistical Software, 67(1), 1-48. doi:10.18637/jss.v067.i01
Oral history interview with Kate Hart
No full textKate Hart, author and artist, talks her youth and how she became interested in writing young adult literature. She discusses her book, After the Fall, explaining the circumstances that led her to write the book. Hart comments on the creativity side as well as her process of writing and briefly talks about some of her other work.The Deep Roots: Oklahoma Authors Collection is a series of interviews with authors who discuss their lives, work, and creative processes
Kate Christensen, 37th Annual ODU Literary Festival
No full textKATE CHRISTENSEN is the author of six novels, including The Epicure\u27s Lament, the PEN/Faulkner award-winning The Great Man, and The Astral. She describes herself as a cook of the improvisational, what\u27s-in-the-cupboard school, which is also, possibly not coincidentally, [her] strategy with writing, and as someone who was raised in Berkeley in the 1960s, long before the Bay Area became the American locavore/foodie mecca. She now lives in Portland, Maine, and the White Mountains of New Hampshire. Her food memoir is Blue Plate Special: An Autobiography of My Appetites (Doubleday, 2013). She is currently collaborating with Barbara Lynch, the Boston chef, on her memoir
Kate Daniels, 12th Annual ODU Literary Festival
No full textKate Daniels, a Norfolk native who now teaches at Louisiana State University, is the author of two volumes of poetry, The White Wave, 1984, and The Niobe Poems, 1988, as well as the forthcoming Muriel Rukeyser: A Life of Poetry. Since 1979 she has co-edited the magazine Poetry East. In addition, she is the co-editor of On Silence: Writings on Robert Bly, 1982, and of the forthcoming The Achievement of Muriel Rukeyser. She is a member of the Board of Directors of the Associated Writing Programs
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