A5038862401- Genomics and Rare Diseases
- Diabetes and associated disorders
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Immunodeficiency and Autoimmune Disorders
- Connective tissue disorders research
- Electrolyte and hormonal disorders
- Ion Transport and Channel Regulation
- Pharmacogenetics and Drug Metabolism
- Computational Drug Discovery Methods
- Neonatal Health and Biochemistry
- Peptidase Inhibition and Analysis
- Hemoglobinopathies and Related Disorders
- Cancer Genomics and Diagnostics
- Amino Acid Enzymes and Metabolism
- Nutrition, Genetics, and Disease
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Cell Adhesion Molecules Research
- Metabolism and Genetic Disorders
- Ocular Disorders and Treatments
- Magnesium in Health and Disease
- Cystic Fibrosis Research Advances
University of Vermont
2018-2024
Health Net
2020-2022
The University of Vermont Health Network Home Health & Hospice
2022
University of Vermont Medical Center
2018
St. Luke's Children's Hospital
2011-2017
Innsbruck Medical University
2016
Universität Innsbruck
2016
St. Luke's Hospital
2013
St. Luke’s Boise Medical Center
2013
Saint Luke's Health System
2012
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a recessive disorder of early childhood.1 Symptoms the disease generally appear in infancy and include protracted diarrhea, ichthyosiform dermatitis, insulin-dependent diabetes mellitus, thyroiditis, hemolytic anemia.2–6 Nephropathy has been reported two familial cases enteropathy with mellitus.7 inheritance accounts for seven kindreds studied to date,2–9 but sporadic boys have also reported.6,10–12...
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped approximately 5.8 Mb region at 12p13.1 but no candidate gene identified. In international consortium we recruited 19 independent families comprising 107 individuals with pEDS identify the locus, characterize clinical details in those defined genetic causes, try understand...
In the mouse and human, mRNA transcripts encoding lymphocyte-specific protein tyrosine kinase p56lck are derived from two separate promoters resulting in heterogeneity 5' untranslated region sequence. The proximal promoter lies just to coding for gene is active only thymocytes. contrast, distal 34 kilobases (kb) both thymocytes mature peripheral T cells. As previously reported, transgenic mice bearing functional sequence juxtaposed with SV40 large antigen invariably develop lymphoid tumors...
Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular diagnosis for conditions with known disease-associated genes, enables better genotype–phenotype correlations, and facilitates variant allele detection allowing novel disease gene discovery. We retrospectively analyzed data from 63,127 patients referred clinical chromosomal microarray...
The lymphocyte-specific proto-oncogene lck is transcribed from two developmentally regulated, independently functioning promoters. proximal promoter used in thymocytes, but not peripheral T lymphocytes. distal operates all stages of cell development, predominates more mature cells. Both promoters lack a TATAA element and they share little sequence similarity with each other. Using transgenic mice to locate vivo functional cis-acting regions the murine promoter, we defined region -1786 -2913...
SUMMARY The scurfy mutant mouse is the genetic and phenotypic equivalent of single-gene human autoimmune disease immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX). mutation disrupts Foxp3 gene, a putative master switch for T regulatory cell development. Bone marrow transplant without conditioning was previously reported to be ineffective in mice, yet clinical remission occurs transplanted IPEX patients despite limited donor engraftment. In view this contradiction, we...
The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases have been reported in the literature; however, size deletions their breakpoints vary, making it difficult to identify candidate genes. Recent reports pointed 4 genes (XPO1, USP34, BCL11A, REL) that were included, alone or combination, smallest causing syndrome. Here, we...
The clinical findings of eight families with Stickler syndrome were analyzed and compared the results linkage studies using a marker for type II collagen gene (COL2A1). In six families, there was phenotype to COL2A1. manifestations affected individuals similar those original family [Stickler et al., Mayo. Clin. Proc. 40:433-455, 1965] resembled previously reported or in which dominant mutation COL2A1 has been identified. Linkage excluded two remaining families. most striking difference...
CONTEXT Brain-derived neurotrophic factor (BDNF) is suspected of being a causative in psychiatric disorders based on case reports or studies involving large structural anomalies. OBJECTIVE To determine the involvement BDNF human psychopathology. DESIGN Case-control study. SETTING Microarray-based comparative genomic hybridization data from 7 molecular diagnostic centers including 38 550 affected subjects and 28 705 unaffected subjects. PATIENTS Subjects referred to screening for...
SUMMARY IPEX syndrome is a genetic autoimmune disease characterized by immune-mediated polyendocrinopathy, enteropathy, and X-linked inheritance. We describe case of in which lymphocyte phenotypes were assessed at birth, before initiation Cyclosporin A therapy, frequent intervals to 18 months age. performed flow cytometry for subtypes activation markers (HLA-DR, CD25, CD69 or CD71). The ratios both T B cells CD4+ CD8+ elevated but not activated. HLA-DR+ CD25+ activated T-cells increased...
Background Subtelomeric deletions of the long arm chromosome 20 are rare, with only 11 described in literature. Clinical features individuals these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental seizures mild, non-specific dysmorphic features. Methodology/Principal Findings We characterized at 20q13.33 six referred for genetic evaluation and/or congenital anomalies. A comparison to previously reported cases...
A 0.8 kb intronic duplication in MAGT1 and a single base pair deletion the last exon of ATRX were identified using chromosome X-specific microarray exome sequencing family with five males demonstrating intellectual disability (ID) unusual skin findings (e.g., generalized pruritus). is an Mg²⁺ transporter previously associated primary immunodeficiency ID, whereas mutations cause ATRX-ID syndrome. In patient cells, function was demonstrated to be abnormal based on altered RNA/protein...