Search results for "Dominant"

Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia

2015

Abstract Familial hypercholesterolemia (FH) is one of the most common single gene disorders, which is mostly inherited as an autosomal dominant trait. The physical signs of FH are elevated low density lipoprotein cholesterol (LDL-C), elevated total cholesterol (TC) levels and tendon xantomas. Identification and early treatment of affected individuals is desirable and in lack of physical symptoms DNA-based diagnosis provides confirmation of diagnosis and enables early patient management. The majority of FH cases are caused by mutations in four genes (APOB, LADLR, PCSK9, and LDLRAP1). There are commercial kits available for testing of the 20 most common FH causing mutations, but the spectrum …

Entrevista a José Vidal-Beneyto

2002

Starlikeness Condition for a New Differential-Integral Operator

2020

A new differential-integral operator of the form I n f ( z ) = ( 1 &minus

Analyse de la planification espagnole comme processus de decision politique

1977

When value co-creation turns to co-destruction: Users' experiences of augmented reality mobile games

2018

Service-dominant logic (SDL) provides a well-established lens for understanding services as value co-creation processes. However, also value co-destruction can occur in service processes, but the literature on value co-destruction remains scattered and more studies are called for. We address this research gap with a classification of users’ subjective reasoning for value co-destructive experiences while playing the augmented reality (AR) mobile game Pokémon GO. We conduct laddering interviews with Pokémon GO players to uncover their value co-destruction experiences. Employing clustering analysis, we investigate users’ reasoning for value co-destruction experiences, and argue that value co-d…

Muscle effort is best minimized by the right-dominant arm in the gravity field

2021

AbstractThe central nervous system (CNS) is thought to develop motor strategies that minimize various hidden criteria, such as end-point variance or effort. A large body of literature suggests that the dominant arm is specialized for such open-loop optimization-like processes whilst the non-dominant arm is specialized for closed-loop control. Building on recent results suggesting that the brain plans arm movements that takes advantage of gravity effects to minimize muscle effort, the present study tests the hypothesized superiority of the dominant arm motor system for effort minimization. Thirty participants (22.5 ± 2.1 years old; all right-handed) performed vertical arm movements between t…

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.

2006

Patients homozygous or Compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels. more extensive xanthomatosis and more severe premature coronary disease (pCAD) than simple heterozygotes for mutations in either these genes or for missense mutations in PCSK9 gene. It is not known whether combined mutations in LDLR and PKCS9 are associated with such a severe phenotype. We sequenced Apo B and PCSK9 genes in two patients with the clinical diagnosis of homozygous FH who were heterozygous for LDLR gene mutations. Proband Z.P. (LDL-C 13.39 mmol/L and pCAD) was heterozygous for an LDLR mutation (p.E228K) inherited from her father (LD…

La obstinación de los hechos

1976

Mujeres en la mundialización

2001

Fold interaction and wavelength selection in 3D models of multilayer detachment folding

2014

Abstract Many fold-and-thrust belts are dominated by folding and exhibit a fairly regular fold-spacing. Yet, in map-view, the aspect ratio of doubly-plunging anticlines varies considerably from very elongated, and sometimes slightly curved, cylindrical folds to nearly circular, dome-like structures. In addition, the fold spacing often varies significantly around an average value. So far, it remains unclear whether these features are consistent with a folding instability. Therefore, we here study the dynamics of multilayer detachment folding, process by which shortening can be accommodated in thin-skinned fold-and-thrust belts. We start by analysing the physics of this process by using both …