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Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
(Public Library of Science, 2013-09-18)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...
Detailed dissection of UBE3A-mediated DDI1 ubiquitination.
(Frontiers, 2019-05-03)
The ubiquitin E3 ligase UBE3A has been widely reported to interact with the proteasome, but it is still unclear how this enzyme regulates by ubiquitination the different proteasomal subunits. The proteasome receptor DDI1 ...
alpha-Branched Ketone Dienolates: Base-Catalyzed Generation and Regio- and Enantioselective Addition Reactions
(Wiley-VCH, 2019-05-14)
In this study, the unique capacity of bifunctional Brønsted bases to generate α-branched ketone dienolates and control both site- and stereoselectivity of their addition reactions to representative classes of carbon ...
The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits
(2015-05-27)
For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular,
height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research.
However, ...
Genetic and environmental effects on body mass index from infancy to the onset of adulthood: an individual-based pooled analysis of 45 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) study
(Elsevier, 2016-07-13)
Background: Both genetic and environmental factors are known to affect body mass index (BMI), but detailed understanding of how their effects differ during childhood and adolescence is lacking. Objectives: We analyzed the ...
Enantioselective Construction of Tetrasubstituted Stereogenic Carbons through Brønsted Base Catalyzed Michael Reactions: α´-Hydroxy Enones as Key Enoate Equivalent
(ACS, 2014-11-25)
Catalytic and asymmetric Michael reactions constitute very powerful tools for the construction of new C–C bonds in synthesis, but most of the reports claiming high selectivity are limited to some specific combinations of ...
Asymmetric Synthesis of Adjacent Tri- and Tetrasubstituted Carbon Stereocenters: Organocatalytic Aldol Reaction of an Hydantoin Surrogate with Azaarene 2-Carbaldehydes
(Wiley-VCH, 2019-07-18)
A bifunctional amine/squaramide catalyst promoted direct aldol addition of an hydantoin surrogate to pyridine 2-carbaldehyde N-oxides to afford adducts bearing two vicinal tertiary/quaternary carbons in high diastereo- and ...
Enantioselective Addition of Alkynyl Ketones to Nitroolefins Assisted by Bronsted Base/H-Bonding Catalysis
(Wiley, 2019-03-21)
Various sets of enolizable alkynyl ketones (including methyl ynones with α-aryl, α-alkenyl, and α-alkoxy groups) were able to react smoothly with nitroolefins with the assistance of bifunctional Brønsted base/H-bond catalysts ...
α-Hydroxy Ketones as Masked Ester Donors in Brønsted Base-Catalyzed Conjugate Additions to Nitroalkenes
(ChemPubSoc Europe, 2018-02-15)