A Read/Write Mechanism Connects p300 Bromodomain Function to H2A.Z Acetylation
iScience, 2019 Summary: Acetylation of the histone variant H2A.Z (H2A.Zac) occurs at active regulatory regions associated with gene expression. Although the Tip60 complex is proposed to acetylate H2A.Z, functional studies suggest additional enzymes are involved.
Yolanda Colino-Sanguino +10 more
doaj +1 more source
Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases. [PDF]
, 2017 Context.-The number of targeted next-generation sequencing (NGS) panels for genetic diseases offered by clinical laboratories is rapidly increasing. Before an NGS-based test is implemented in a clinical laboratory, appropriate validation studies are ...
Ferreira-Gonzalez, Andrea +8 more
core +3 more sources
National Board of Examinations Journal of Medical SciencesBackground: Lichen Planus (LP) is a chronic, immune-mediated papulosquamous disorder with multiple clinical variants. Accurate diagnosis requires taking into account both clinical and histological features and acquire an association between them ...
Shivangi Saith +3 more
doaj +1 more source
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications [PDF]
, 2017 Purpose: Epidermolysis bullosa (EB), the prototype of heritable blistering diseases, is caused by mutations in as many as 19 distinct genes. In this study, we evaluated the molecular basis of EB in 93 families, many of them of unknown subtype. Methods:
Abiri, Maryam +15 more
core +1 more source
Efficient inference for genetic association studies with multiple outcomes
, 2017 Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study.
Davison, Anthony C. +3 more
core +1 more source
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]
, 2018 Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia +12 more
core +1 more source
Virus and host factors affecting the clinical outcome of bluetongue virus infection [PDF]
, 2014 Bluetongue is a major infectious disease of ruminants caused by bluetongue virus (BTV), an arbovirus transmitted by Culicoides. Here, we assessed virus and host factors influencing the clinical outcome of BTV infection using a single experimental ...
Caporale, Marco +9 more
core +6 more sources
Clinical and functional characterization of URAT1 variants. [PDF]
PLoS ONE, 2011 Idiopathic renal hypouricaemia is an inherited form of hypouricaemia, associated with abnormal renal handling of uric acid. There is excessive urinary wasting of uric acid resulting in hypouricaemia.
Velibor Tasic +8 more
doaj +1 more source
Frontiers in Cellular and Infection Microbiology, 2022 ObjectiveTo evaluate the necessity of Covid-19 vaccination in children aged < 12 y by comparing the clinical characteristics between unvaccinated children aged < 12 y and vaccinated patients aged ≥ 12y during the Delta surge (B.1.617.2) in Putian ...
Hongru Li +20 more
doaj +1 more source
Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]
, 2018 Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria +2 more
core +1 more source