21 research outputs found

    Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India

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    Purpose: Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by progressive central haze, confluent punctate opacities and abnormal deposits in the cornea. It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, encoding corneal N-acetyl glucosamine-6-O-sulfotransferase (C-GlcNAc-6-ST). We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations. Methods: Genomic DNA was isolated from peripheral blood leukocytes of patients with MCD and normal controls. The coding regions of the CHST6 gene were amplified using three pairs of primers and amplified products were directly sequenced. Results: We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD, supporting the conclusion that loss of function of this gene is responsible for this corneal disease. Seventeen of these mutations are novel. Conclusions: These data highlight the allelic heterogeneity of macular corneal dystrophy in Indian patients

    Information flow, cell types and stereotypy in a full olfactory connectome

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    Funder: Howard Hughes Medical Institute; FundRef: http://dx.doi.org/10.13039/100000011The hemibrain connectome provides large-scale connectivity and morphology information for the majority of the central brain of Drosophila melanogaster. Using this data set, we provide a complete description of the Drosophila olfactory system, covering all first, second and lateral horn-associated third-order neurons. We develop a generally applicable strategy to extract information flow and layered organisation from connectome graphs, mapping olfactory input to descending interneurons. This identifies a range of motifs including highly lateralised circuits in the antennal lobe and patterns of convergence downstream of the mushroom body and lateral horn. Leveraging a second data set we provide a first quantitative assessment of inter- versus intra-individual stereotypy. Comparing neurons across two brains (three hemispheres) reveals striking similarity in neuronal morphology across brains. Connectivity correlates with morphology and neurons of the same morphological type show similar connection variability within the same brain as across two brains

    natverse/natmanager: cran version 0.5.0

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    switch to pak as default installer (should be faster and simpler) dev: simpler/faster v2 r-lib/actions by @jefferis in https://github.com/natverse/natmanager/pull/20 dev: set up weekly natverse build by @jefferis in https://github.com/natverse/natmanager/pull/21 Switch to Greg as maintainer Full Changelog: https://github.com/natverse/natmanager/compare/v0.4.9...v0.5.

    On the q-analogues of the Zassenhaus formula for disentangling exponential operators

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    To our dear friend Srinivasa Rao with admiration, affection, and best wishes on his sixtieth birthday Katriel, Rasetti and Solomon introduced a q-analogue of the Zassenhaus · · ·, where A and B are two formula written as e (A+B) q = eA q eBq ec2 q ec3 q ec4 q ec5 q generally noncommuting operators and ez q is the Jackson q-exponential, and derived the expressions for c2, c3 and c4. It is shown that one can also write e (A+B) q = eA q eBq eC
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