Results 81 to 90 of about 479,392 (208)
Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M. +76 more
core +2 more sources
ABSTRACT Attribution scholarship has sought to gain insights into employees' human resource attributions, or beliefs about managerial motives, to explain workplace behaviours. Yet this perspective remains confined to the front end of the cognitive process, overlooking how causal ascriptions arising from strategic HRM practices inform subsequent ...
Manh Dao +3 more
wiley +1 more source
Thrombosis in inherited factor VII deficiency
Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic
WULFF K +12 more
core +1 more source
ABSTRACT External audits enhance the credibility of financial statements and are a cornerstone of capital market integrity. However, the growing and complex auditing literature poses challenges for researchers. This survey synthesizes and critically evaluates archival audit research published in top accounting journals from 1995 to 2025, organizing ...
Clive Lennox, Chan Li, Yiqian Wang
wiley +1 more source
Abstract This study collects original data to examine the determinants of classification criteria of county hierarchy and its rank variations during the Tang–Song period. The results reveal that the county hierarchy was affected by both economic and political situations, with more emphasis on politics in Tang and economics in Song.
Nan Li, Heqi Cai
wiley +1 more source
Major differences in bleeding symptoms between factor VII deficiency and haemophilia B
SUMMARY BACKGROUND: The autosomally-inherited factor VII (FVII) deficiency and X-linked hemophilia B offer an attractive model to investigate whether reduced levels of FVII and FIX, acting in the initiation and amplification of coagulation respectively ...
J. Ingerslev +11 more
core +1 more source
Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease
Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor +4 more
wiley +1 more source
Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery +17 more
wiley +1 more source
Abstract Background and Purpose D‐amino acid oxidase (DAO) has been developed as a chemogenetic tool, to precisely manipulate redox levels in tissues and cells by generating H2O2 in the presence of D‐amino acids. The enzyme's significant oxygen consumption during H2O2 production may influence cellular oxygen levels.
Wiebke Maurer +10 more
wiley +1 more source
Background and Purpose G protein‐coupled receptors (GPCRs) are major drug targets, yet many orphan receptors remain poorly characterized. GPR139 has been implicated in CNS disorders, including schizophrenia and depression, but its signalling mechanisms remain unclear.
Boris Trapkov +2 more
wiley +1 more source

