25 research outputs found
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Identification of monetary policy in SVAR models: A data-oriented perspective
In the literature using short-run timing restrictions to identify monetary policy shocks in vector-auto-regressions (VAR) there is a debate on whether (i) contemporaneous real activity and prices or (ii) only data typically observed with high frequency should be assumed to be in the information set of the central bank when the interest rate decision is taken. This paper applies graphical modeling theory, a data-based tool, in a small-scale VAR of the US economy to shed light on this issue. Results corroborate the second type of assumption
A COL7A1 Mutation Causes Dystrophic Epidermolysis Bullosa in Rotes Höhenvieh Cattle
We identified a congenital mechanobullous skin disorder in six calves on a single farm of an endangered German cattle breed in 2010. The condition presented as a large loss of skin distal to the fetlocks and at the mucosa of the muzzle. All affected calves were euthanized on humane grounds due to the severity, extent and progression of the skin and oral lesions. Examination of skin samples under light microscopy revealed detachment of the epidermis from the dermis at the level of the dermo epidermal junction, leading to the diagnosis of a subepidermal bullous dermatosis such as epidermolysis bullosa. The pedigree was consistent with monogenic autosomal recessive inheritance. We localized the causative mutation to an 18 Mb interval on chromosome 22 by homozygosity mapping. The COL7A1 gene encoding collagen type VII alpha 1 is located within this interval and COL7A1 mutations have been shown to cause inherited dystrophic epidermolysis bullosa (DEB) in humans. A SNP in the bovine COL7A1 exon 49 (c.4756C>T) was perfectly associated with the observed disease. The homozygous mutant T/T genotype was exclusively present in affected calves and their parents were heterozygous C/T confirming the assumed recessive mode of inheritance. All known cases and genotyped carriers were related to a single cow, which is supposed to be the founder animal. The mutant T allele was absent in 63 animals from 24 cattle breeds. The identified mutation causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*). We thus have identified a candidate causative mutation for this genetic disease using only three cases to unravel its molecular basis. Selection against this mutation can now be used to eliminate the mutant allele from the Rotes Höhenvieh breed
Waveforms of molecular oscillations reveal circadian timekeeping mechanisms
Circadian clocks play a pivotal role in orchestrating numerous physiological
and developmental events. Waveform shapes of the oscillations of protein
abundances can be informative about the underlying biochemical processes of
circadian clocks. We derive a mathematical framework where waveforms do reveal
hidden biochemical mechanisms of circadian timekeeping. We find that the cost
of synthesizing proteins with particular waveforms can be substantially reduced
by rhythmic protein half-lives over time, as supported by previous plant and
mammalian data, as well as our own seedling experiment. We also find that
previously-enigmatic, cyclic expression of positive arm components within the
mammalian and insect clocks allows both a broad range of peak time differences
between protein waveforms and the symmetries of the waveforms about the peak
times. Such various peak-time differences may facilitate tissue-specific or
developmental stage-specific multicellular processes. Our waveform-guided
approach can be extended to various biological oscillators, including
cell-cycle and synthetic genetic oscillators.Comment: Supplementary material is available at the journal websit
Variation in plant-animal interactions along an elevational gradient of moist forest in a semiarid area of Brazil
Do tratamento moral à atenção psicossocial: a terapia ocupacional a partir da reforma psiquiátrica brasileira
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Terminal keratinocyte differentiation involves coordinated expression of several functionally interdependent genes, many of which have been mapped to the epidermal differentiation complex (EDC) on chromosome 1q21. We have identified linkage of Vohwinkel's syndrome in an extended pedigree to markers flanking the EDC region with a maximum multipoint lod score of 14.3. Sequencing of the loricrin gene revealed an insertion that shifts the translation frame of the C-terminal Gly- and Gln/Lys-rich domains, and is likely to impair cornification. Our findings provide the first evidence for a defect in an EDC gene in human disease, and disclose novel insights into perturbations of cornified cell envelope formation