Ariane S I StandingUniversity of Florida | UF · Department of Biology
Ariane S I Standing
PhD
About
44
Publications
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560
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Citations since 2017
Introduction
Additional affiliations
November 2016 - November 2019
October 2015 - October 2016
October 2012 - September 2015
Education
October 2008 - October 2013
October 2007 - September 2008
October 2003 - June 2006
Publications
Publications (44)
The importance of actin dynamics in the activation of the inflammasome is becoming increasingly apparent. IL-1β, which is activated by the inflammasome, is known to be central to the pathogenesis of many monogenic autoinflammatory diseases. However, evidence from an autoinflammatory murine model indicates that IL-18, the other cytokine triggered by...
The pathophysiology of allergic asthma is driven by Th2 immune responses after aeroallergen inhalation. The mechanisms that initiate, potentiate, and regulate airway allergy are incompletely characterized. We have shown that Hh signaling to T cells, via downstream Gli transcription factors, enhances T cell conversion to a Th2 phenotype. In this stu...
We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for MEFV p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligog...
Synopsis
In recent years, nonclassical models have emerged as mainstays for studies of evolutionary, developmental, and regenerative biology. Genomic advances have promoted the use of alternative taxa for the study of developmental biology, and the shark is one such emerging model vertebrate. Our research utilizes the embryonic shark (Scyliorhinus...
The actin cytoskeleton plays many important roles in the lifecycle of platelets, from biogenesis from megakaryocytes, to activation and clearance from the circulation. It is therefore unsurprising that mutations in genes regulating the dynamics of this cytoskeleton lead to numerous inherited thrombocytopenias. A diverse array of proteins are affect...
A new species of swamp eel, Ophichthys terricolus, is described from Assam, India. The new species closely resembles the common Ophichthys cuchia but differs from this species by having fewer abdominal vertebrae (79-80 vs. 95-100), a longer preanal and shorter postanal region, and a wider and higher posterior part of the body.
We studied in detail the head and shoulder girdle skeleton and vertebral column of the holotype of the Mexican endemic swamp eel Ophisternon infernale. This exclusively subterranean species lives in waters inside lime stone caves in Yucatán. Its skeleton shows a number of putative plesiomorphic characters in relation to those of Oph ichthys, Raktha...
Development of tooth shape is regulated by the enamel knot signalling centre, at least in mammals. Fgf signalling regulates differential proliferation between the enamel knot and adjacent dental epithelia during tooth development, leading to formation of the dental cusp. The presence of an enamel knot in non-mammalian vertebrates is debated given d...
Based on recently collected material, we redescribe the poorly known synbranchid species Ophichthys fossorius. This highly fossorial species is known from different localities in Kerala, Peninsular India. It can be distinguished from its congeners by its vertebral count of 73-78 precaudal + 52-58 caudal = 126-132 total vertebrae.
Development of tooth cusps is regulated by the enamel knot signalling centre. Fgf signalling regulates differential proliferation between the enamel knot and adjacent dental epithelia during tooth development, leading to formation of the dental cusp. The presence of an enamel knot in non-mammalian vertebrates is debated given differences in signall...
Excessive exercise with limited recovery may lead to detrimental states of overreaching or the overtraining syndrome. Chronic maladaptation in endocrine and immune mechanisms occur with the incidence of these states. Exercise-induced cortisol and testosterone responses have been proposed as biomarkers of overreaching, with blunted responses followi...
We provide a detailed description of the head and shoulder girdle osteology of the holotype of the synbranchid 'Monopterus' roseni Bailey & Gans. Collected from a well in Kerala, this subterranean synbranchid shows a number of unique and highly derived characters in the gill arch skeleton. In 'Monopterus'roseni, basibranchial 2 does not articulate...
Objectives:
Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to retrospectively describe the clinical and laboratory features of 11 paediatric cases referred for suspected BD who turned out to have an alternative, monogenic dis...
Background
Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated innate immunity. They cause significant morbidity, mortality and economic burden. Here, we aimed to develop and evaluate the clinical impact of a NGS ta...
Flowchart of the process of VIP development and evaluation.
Identified variants in samples form undiagnosed patients were classified as either clearly pathogenic (class 5), likely to be pathogenic (class 4) or unknown significance as recommended by the Association for Clinical Genetic Science (ACGS [20]). All known variants in positive samples were...
Integrative Genomic Viewer (IGV) screenshot and Sanger electropherogram of 3 of the 5 identified Class 5 variants; A) PTEN p.V217D, B) TNFAIP3 p.R217X and C) RNF213 p.D4013N. All had good quality mapped reads and were determined to be correct by Sanger sequencing (right panel). The red asterisk indicates nucleotide substitution in both IGV and Sang...
list of captured regions with more baits added to improve coverage.
(DOCX)
Bioinformatics parameters used for both Genesis and SureCall pipelines.
(DOCX)
detailed information for VIP1 genes.
(XLSX)
list of targeted regions with coverage less than 30x.
(XLSX)
Comparison of identified variants between VIP1 and VIP2 for 7 samples tested in duplicate.
(DOCX)
detailed information for VIP2 genes.
(XLSX)
SureDesign description of probes for VIP1 and VIP2.
(XLSX)
Clinical features and genetic variants identified in patients with variants of unknown significant.
(DOCX)
This work has been presented at the 13th Symposium of the ISEI, in Coimbra Portugal. It is part of a project developing a short-duration running bout to be used to highlight exercise-induced hormonal responses associated with overtraining, in an attempt to avoid the incidence of NFOR/OTS. This project will examine the endocrine, immune and inflamma...
Juvenile systemic lupus erythematosus (jSLE) is rare before 5 years of age. Monogenic causes are suspected in cases of very early onset jSLE particularly in the context of a family history and/or consanguinity. We performed whole-exome sequencing and homozygosity mapping in the siblings presented with early-onset jSLE. A novel homozygous missense m...
Background
Monogenic autoinflammatory diseases (AID) are severe lifelong systemic inflammatory disorders with dysregulated innate immunity, causing significant morbidity, mortality, and economic burden. The number of AID is rapidly expanding. Securing a molecular diagnosis is of major importance for treatment, prognosis, and genetic counselling. Ro...
Objectives:
To describe the clinical features, genotype, and treatment of a series of subjects with confirmed Deficiency of Adenosine Deaminase 2 (DADA2) referred to Great Ormond Street Hospital NHS Foundation Trust (GOSH), London. Methods All symptomatic subjects were referred for genetic testing for suspected DADA2; relatives of index cases were...
CAPS is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant fashion. About 40% of children with CINCA are mutation negative by conventional Sanger sequencing, but NLRP3 somatic mosaicism can be identified by sensitive multi-parallel sequencing (MPS) in a significant proportion of such patients.
Recessive mutations in Cat Eye syndrome Critical Region 1 (CECR1), the gene encoding adenosine deaminase 2 (ADA2) have been recently reported to cause polyarteritis nodosa (PAN) with highly varied clinical expression.
Reactive oxygen species (ROS) are known to have many roles in the propagation of the inflammatory process. Indeed increased leucocyte ROS have been implicated in a number of autoinflammatory diseases (TRAPS, FMF, CAPS and FCAS2).
Twenty month old boy who presented with an urticarial-like rash since birth. At 6 months of age he was noted to have frontal bossing with increasing head circumference, hepatosplenomegaly, and papilledema with no signs of uveitis. A mild conductive hearing impairment was detected, but no sensorineural hearing loss. Inflammatory markers were raised...
Two affected children in a consanguineous Pakistani kindred suffered from an unclassified autoinflammatory syndrome presenting in the first year of life with: severe oral ulceration resulting in scarring; perianal cutaneous ulceration; severe sterile recurrent fevers; and intermittent episodes of thrombocytopenia associated with intercurrent (presu...
The monogenic autoinflammatory syndromes are characterised by seemingly unprovoked inflammation which derives from a disruption of innate immunity. Novel as yet undefined autosomal recessive syndromes are increasingly recognised in consanguineous families. This type of family is ideal for genetic mapping.
Cryopyrin associated periodic syndromes (CAPS) are caused by autosomal dominant gain of function mutations in the NLRP3 gene. However, up to 50% of clinically diagnosed CAPS patients with typical clinical features and good response to anti-IL-1b treatment have no mutation detected by conventional Sanger DNA sequencing. Recent studies suggest that s...
The autoinflammatory syndromes are an emerging group of diseases, some with defined genetic cause, characterised by seemingly unprovoked inflammation which derives from a disruption of innate immunity. Novel as yet undefined syndromes are increasingly recognised in consanguineous families who may have normal parents and both affected and unaffected...
Objective
To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a child who had typical clinical features but who was NLRP3 mutation negative based on conventional Sanger sequencing. Methods
We performed whole-exome sequencing on DNA from peripheral blood, using...
Steady progress in our understanding of the genetic basis of autoinflammatory diseases has been made over the past 16 years. Since the discovery of the familial Mediterranean fever gene MEFV (also known as marenostrin) in 1997, 18 other genes responsible for monogenic autoinflammatory diseases have been identified to date. The discovery of these ge...
We present a case of X-linked lymphoproliferative syndrome type 2 (XLP-2) with autoinflammatory features mimicking cryopyrin associated periodic fever syndrome (CAPS) to raise awareness of this differential diagnosis amongst rheumatologists. Possible disease mechanisms involving proteasome activity are discussed.
Projects
Projects (2)
The main aim of this project is to design and develop a novel short-duration (30 min), high-intensity running bout that could elicit an acute elevation in plasma and salivary cortisol and testosterone responses when in a healthy state. These responses would be expected to blunt after a period of intensified training, as shown by Hough et al. (2013 & 2015).
