نتایج جستجو برای: cartilage hair hypoplasia

تعداد نتایج: 77284  

Journal: :The Journal of clinical investigation 1983
G F Pierce C Brovall B Z Schacter S H Polmar

Recent studies of cartilage-hair hypoplasia (CHH), a form of short-limbed dwarfism, have shown that all affected individuals have a cellular proliferation defect that results in a cellular immunodeficiency. However, only a minority of CHH individuals suffer from severe, life-threatening infections. For this reason, relevant immune defense mechanisms that may be responsible for maintaining intac...

Journal: :Scandinavian journal of immunology 1997
R Kooijman C J van der Burgt C M Weemaes A Haraldsson E J Scholtens B J Zegers

Cartilage hair hypoplasia is a rare autosomal recessive form of short-limbed dwarfism associated with a cellular immunodeficiency. In eight patients, the authors studied the presence of T cell subsets and in vitro T cell function in order to address the basis for the immunological disorder. Both the proliferative response to phytohaemagglutinin (PHA) and the PHA-induced IL2 production were 60% ...

2002
A. M. W. Glass Reinhard Winkler

We introduce “rooted valuation products” and use them to construct universal Abelian lattice-ordered groups (with prescribed set of components) [CHH] from the more classical theory of [Ha]. The Wreath product construction of [H] and [HMc] generalised the Abelian (lattice-ordered) group ideas to a permutation group setting to respectively give universals for transitive (`-) permutation groups wi...

2014
Jonathan Grigo Kirill Melnikov Matthias Steinhauser

We calculate the three-loop matching coefficient CHH , required for a consistent description of Higgs boson pair production in gluon fusion through next-to-next-toleading order QCD in the heavy top quark approximation. We also compute the gg → HH amplitude in mt → ∞ approximation in the full theory and show its consistency with an earlier computation in heavy-top effective theory. ∗On leave of ...

2015
Manu J Dubin Pei Zhang Dazhe Meng Marie-Stanislas Remigereau Edward J Osborne Francesco Paolo Casale Philipp Drewe André Kahles Geraldine Jean Bjarni Vilhjálmsson Joanna Jagoda Selen Irez Viktor Voronin Qiang Song Quan Long Gunnar Rätsch Oliver Stegle Richard M Clark Magnus Nordborg

Epigenome modulation potentially provides a mechanism for organisms to adapt, within and between generations. However, neither the extent to which this occurs, nor the mechanisms involved are known. Here we investigate DNA methylation variation in Swedish Arabidopsis thaliana accessions grown at two different temperatures. Environmental effects were limited to transposons, where CHH methylation...

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