Search results for "muta"
showing 10 items of 6895 documents
Variants of human CLDN9 cause mild to profound hearing loss
2021
Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing of probands identified a homozygous c.475G>A;p.(Glu159Lys) variant of CLDN9 (NM_020982.4) in one family and a homozygous c.370_372dupATC;p.(Ile124dup) CLDN9 variant in an affected individual of a second family. Claudin 9 (CLDN9) is an integral membrane protein and constituent of epithelial bicellular tight junctions that form semi-permeable, paracellular barriers between inner ear perilymphatic and endolymphatic compartment…
Associations of Work-Family Conflict with Family-Specific, Work-Specific, and Well-Being-Related Variables in a Sample of Polish and Ukrainian Adults…
2022
The conflict between work and family demands increased during the COVID-19 pandemic due to changes in lifestyle related to the lockdown. This study examines the associations between work-family conflict (WFC) and family-work conflict (FWC) with work-specific, family-specific, and well-being-related variables during the second wave of the COVID-19 pandemic. The results may be used in practice to improve the well-being of employees by adjusting home-based work and family areas of life to dynamic changes during the pandemic. The sample of 736 adults from Poland (53.26%) and Ukraine (46.74%), aged between 19 and 72 (M = 39.40; SD = 10.80), participated in the study. The cross-sectional study wa…
L’approccio dell’etichettamento nello studio della devianza
2020
Il saggio in questione – inserito originariamente in un volume interdisciplinare dedicato alla classificazione dei bambini “con bisogni speciali” – indica come il processo sociale di classificazione sia esso stesso oggetto dell’analisi perché «concepire il problema dei bambini con bisogni speciali in questo modo ci porta a problematizzare il modo in cui è apparsa la stessa categoria», individuando la natura anche politica del processo di definizione del “deviante” che necessita di un approfondimento delle dinamiche storiche, culturali, sociali, politiche, giuridiche che producono le diverse categorie di “bambini con bisogni speciali”. Gli usi della classificazione all’interno delle agenzie …
Peri-Implant Behavior of Tissue Level Dental Implants with a Convergent Neck
2021
Introduction: The aim of this retrospective study was to analyze the radiographic peri-implant bone loss of bone level implants and tissue level implants with a convergent neck in screw-retained single crowns and in screw-retained fixed partial prostheses, after two years of functional loading. Materials and methods: The sample was divided into two groups according to their type: Group I: supracrestal implants with convergent transmucosal neck
A survey on algebraic dilatations
2023
In this text, we wish to provide the reader with a short guide to recent works on the theory of dilatations in Commutative Algebra and Algebraic Geometry. These works fall naturally into two categories: one emphasises foundational and theoretical aspects and the other applications to existing theories.
Evaluation of Surgical Outcomes of Abdominal Radical Hysterectomy and Total Laparoscopic Radical Hysterectomy for Cervical Cancer: A Retrospective An…
2022
Although a surgical approach is one of the key treatments for stages IA1-IIA2, results of the Laparoscopic Approach to Cervical Cancer (LACC) published in 2018 radically changed the field, since minimally invasive surgery was associated with a four-fold higher rate of recurrence and a six-fold higher rate of all-cause death compared to an open approach. We aimed to evaluate surgical outcomes of abdominal radical hysterectomy (ARH) and total laparoscopic radical hysterectomy (TLRH) for cervical cancer, including data collected before the LACC trial. In our retrospective analysis, operative time was significantly longer in TLRH compared to ARH (p < 0.0001), although this disadvantage could…
RESCUE OF LRBA GENE EXPRESSION IN PRIMARY HUMAN FIBROBLASTS CHARACTERISED BY NONSENSE MUTATION c. 5047 (C>T).
2021
Primary immunodeficiencies (PIDs) are rare genetic diseases characterized by susceptibility to infections, increased risk of autoimmunity, hypogammaglobulinemia, and lymphoproliferative syndromes. PIDs are associated to genetic alterations in about 400 known genes, among which, mutations of the LRBA gene. LRBA gene encodes a widely expressed multi-domain protein with highly conserved BEACH domain, involved in regulation of endosomal trafficking, particularly endocytosis of ligand-activated receptors. It was reported that stop mutations affect this gene leading to the loss of the protein expression. Recently, we identified three Translational Readthrough Inducing Drug (TRID), that showed hig…
Quaderni del Laboratorio Interdisciplinare di ricerca su Corpi, Diritti, Conflitti II
2021
These notebooks are intended to enhance unpublished research and seminars, research and dissemination activities of the laboratories in the perspective multifaceted and interdisciplinary of the "Cultures and Society" Department of the University of Palermo. Among the topics of interest, the sociologies of law, the "deviances" and organized crime, the "Differences", the intersection between oppression and privilege, discrimination and social inequalities; ample space is dedicated to methodological reflection on their study, to requests relating to intervention, prevention and contrast, to the deepening of cultural representations, their socio-anthropological implications, their historical-so…
Hei4Diversity. Building Capacities to Prevent and Respond to any Form of Violence Against the LGBTQI+ Community in Europe
2022
The HEI4Diversity project was created to help build inclusive university education systems capable of guaranteeing effective recognition of the rights of LGBTIQ + people and the necessary forms of prevention and response to any form of violence based on sexual orientation, gender identity and gender expression. HEI4Diversity promotes respect for LGBTIQ + rights in universities.
Working hours – tracking the current and future trends
2021
It is important to track the trends of future working hours, since working hours have strong associations to everyday life and work-life interaction, but also to health. In this paper we aim to track the current and future trends in working hours. We discuss the trends through the key dimensions of working hours: the length, timing, tempo and autonomy. We also consider the role of current trends of spatial changes of work. Changes in working time patterns are fostered by several driving factors: globalization and business restructuring challenging the current work organizations, new information technologies, demographic and climate change and the current and future pandemics. The past and c…