75 research outputs found
Dead Sleep True Crime for Bedtime:"Penning Poison" w/author Dr Emily Cockayne
No full textDead Sleep True Crime for Bedtime, "Penning Poison" w/author Dr Emily Cockayn
Electron microscope images of defects in crystal lattices
No full textSIGLEAvailable from British Library Document Supply Centre- DSC:D66817/86 / BLDSC - British Library Document Supply CentreGBUnited Kingdo
The role of Cockayne Syndrome Protein B in transcription regulation
No full textAbstractWe investigated the question if CSB (Cockayne Syndrome complementation B) protein actively regulates gene transcription and how mutations in CSB gene affect that regulatory role.Here we describe how we processed and interpreted ChIP-seq data (deposited in Gene Expression Omnibus with accession number GSE50171) obtained during an investigation of that question, and how this analysis assisted in the generation of hypothesis that were subsequently validated using other types of experiment
Celmisia angustifolia Cockayne 1914
No full text<p> <b>9.</b> <i>Celmisia angustifolia</i> Cockayne (1914: 114).</p> <p> Type:— NEW ZEALAND. South Island, Canterbury, in fellfield or steppe from the lower sub-alpine to the alpine belts on mountains drained by River Waimakariri, but not where the rainfall is excessive (on label: Mt Torlesse Range at 900 m), 30 Dec 1901, <i>L.</i> <i>Cockayne 1960</i> (lectotype WELT SP45777! designated here; isolectotypes CHR 288141!, K 882082 [image!], WELT SP45778!).</p> <p> <b>Notes:—</b> The type material of <i>C. angustifolia</i> consists of one gathering (<i>L.Cockayne 1960</i>) divided into four herbarium specimens (syntypes). Although the labels of the four syntypes do not indicate exactly the same locality (WELT SP45777: Mt. Torlesse Range ab. 900 m.; CHR 288141: Spur of Mt. Torlesse above Staircase Gully, E. face; K 882082: Fell field on the east face of Mt Torlesse Range ab. 900 m a.s.l. (Eastern Bot distr.); WELT SP45778: E. face of Mt. Torlesse Range, 900 m.), all of them mention the same geographic area, which agrees with the protologue. The four specimens are equal in quality, but I have chosen WELT SP45777 because the label indicates in the author’s handwriting: “Type specimen”.</p>Published as part of <i>Saldivia, Patricio, 2023, Nomenclature and typifications in Celmisia (Asteraceae: Astereae): The New Zealand endemic subgenera Caespitosae, Glandulosae, and Lignosae, pp. 31-45 in Phytotaxa 591 (1)</i> on page 35, DOI: 10.11646/phytotaxa.591.1.3, <a href="http://zenodo.org/record/7784168">http://zenodo.org/record/7784168</a>
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient
No full textBACKGROUND: Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and failure to thrive. The mutated gene responsible for this syndrome has been identified as usually either CSA (CKN1, ERCC8) or CSB (ERCC6). In this study, we describe the case of a 7-year-old Chinese boy with characteristic symptoms of Cockayne syndrome A and the conduction of mutation screening of the CSA gene. METHODS: The patient was diagnosed with Cockayne syndrome in the pediatrics clinic for growth failure and developmental delay. We collected peripheral blood samples of the patient and his parents and then extracted the genomic DNA. DNA samples from control subjects and the patient were subjected to polymerase chain reaction amplification. All exons and the flanking intron-exon boundaries of CSA were amplified; then, the polymerase chain reaction products were directly sequenced for mutation screening. RESULTS: Two novel heterozygous CSA mutations, c.551-2A>C and c.394_398delTTACA, were identified in the patient. The c.551-2A>C mutation originates from his father and changed the splice acceptor site AG to CG, thus possibly causing alternative splicing. The c.394_398deITTACA from his mother caused a frameshift after the amino acid at position 132, thus introducing a premature stop codon in the gene sequence. CONCLUSIONS: These mutations extend the mutation spectrum of Cockayne syndrome in the context of Chinese race and provide possibilities of prenatal diagnosis for future offsprings in this family.Leading Academic Discipline Project of the Beijing Education BureauSCI(E)[email protected]; [email protected]
A method for rigid body expansion measurement in the presence of secondary grain boundary dislocations applied to a SrTiO3 grain boundary
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