Charlotte Brasch‐Andersen
A5090663610- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Drug Transport and Resistance Mechanisms
- Pharmacogenetics and Drug Metabolism
- Glutathione Transferases and Polymorphisms
- Prenatal Screening and Diagnostics
- Genomics, phytochemicals, and oxidative stress
- RNA modifications and cancer
- Congenital heart defects research
- RNA Research and Splicing
- Chronic Obstructive Pulmonary Disease (COPD) Research
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- Fetal and Pediatric Neurological Disorders
- Air Quality and Health Impacts
- Genetic factors in colorectal cancer
- Cell Adhesion Molecules Research
- Congenital Ear and Nasal Anomalies
- Chromosomal and Genetic Variations
- Genetic Associations and Epidemiology
- BRCA gene mutations in cancer
- Asthma and respiratory diseases
- Cancer Genomics and Diagnostics
- Neurogenetic and Muscular Disorders Research
Odense University Hospital
2015-2024
University of Southern Denmark
2007-2024
Genetikum
2016-2020
The aim of this study was to evaluate the effect genetic variations in OCT1, OCT2, MATE1, MATE 2, and PMAT on trough steady-state plasma concentration metformin hemoglobin A1c (Hb1Ac).The South Danish Diabetes Study a 2 x factorial, prospective, randomized, double-blind, placebo-controlled, multicentre study. One hundred fifty-nine patients received 1 g metformin, twice daily continuously, 415 repeated measurements were obtained after 3, 6, 9 months treatment.The mean estimated be 576 ng/ml...
Rare copy number variants (CNVs) disrupting ASTN2 or both and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, its paralog ASTN1, key roles glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 ASTN1 (1q25.2) for exonic CNVs clinical microarray data from...
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development malignancy. YY1 acts both as repressor an activator of gene expression. We have identified 23 individuals de novo mutations or deletions phenotypic features that define syndrome cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, various congenital malformations. Our combined clinical molecular data "YY1 syndrome" haploinsufficiency...
With the increasing number of genomic sequencing studies, hundreds genes have been implicated in neurodevelopmental disorders (NDDs). The rate gene discovery far outpaces our understanding genotype-phenotype correlations, with clinical characterization remaining a bottleneck for NDDs. Most disease-associated Mendelian are members families, and we hypothesize that those related molecular function share presentations.We tested hypothesis by considering families multiple an enrichment de novo...
Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, diagnostic yields many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25–30%. This part because although entire genomes sequenced, analysis confined to silico gene panels or coding regions genome. Methods We undertook WGS on cohort 122 unrelated disease and their relatives (300 genomes) who had been pre-screened by...
Objective The aim of this study was to determine the association between renal clearance (CLrenal) metformin in healthy Caucasian volunteers and single-nucleotide polymorphism (SNP) c.808G>T (rs316019) OCT2 as well relevance gene–gene interactions SNP (a) promoter g.-66T>C (rs2252281) MATE1 (b) OCT1 reduced-function diplotypes. Methods Fifty genotyped for were enrolled study. distribution 25 GG, 20 GT, 5 TT volunteers. pharmacokinetics a 500 mg single oral dose studied. Results When analyzed...
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds mRNA, regulating both constitutive alternative splicing. The complete loss of this proto-oncogene in mice embryonically lethal. Through international data sharing, we identified 17 individuals (10 females 7 males) with neurodevelopmental disorder (NDD) heterozygous germline variants, mostly de novo, including three frameshift...
Asthma is a complex genetic disorder characterized by chronic inflammation in the airways. As oxidative stress key component of inflammation, variations genes involved antioxidant defense could therefore be likely candidates for asthma. Three enzymes from superfamily glutathione-S-transferase (GST) were tested association to asthma using 246 Danish atopic families family-based transmission disequilibrium test (TDT) design. A real-time PCR assay relative quantification gene copy number GSTM1...
Abstract Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates molecular mechanism underlying disorder a Cux1 +/− mouse model. Through international collaboration, we assembled phenotypic information for 34 individuals (23 unpublished individuals). We analyze brain expression susceptibility to epilepsy mice. describe individuals, from which 30...
Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that important for epigenetic regulation of gene expression. PHF8-XLID an under-characterized disorder with only five previous reports describing different predicted loss-of-function eight individuals. Features include ID and craniofacial dysmorphology. In this report we present 16 additional individuals from 11...
This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and genome (WGS) in pregnancies with fetal anomalies by comparing results conventional chromosomal microarray (CMA) analysis.A total 40 or increased nuchal translucency (NT ≥ 5 mm) were included between 12th 21st week gestation. Trio WES/WGS CMA performed all cases.The analysis 25% cases negative results. Furthermore, six aberrations identified independently detected analysis....
Summary Background The glutathione S ‐transferase M1 (GSTM1)‐null variant is a common copy number associated with adverse pulmonary outcomes, including asthma and airflow obstruction, evidence of important gene‐by‐environment interactions exposures to oxidative stress. Objective To explore the joint interactive effects GSTM1 tobacco smoke exposure on development asthma‐related phenotypes in family‐based cohort childhood asthmatics. Methods We performed quantitative PCR‐based genotyping for...
The standard treatment for ovarian cancer in advanced stages is post-surgery with taxane-platin chemotherapy. Despite an initial high response rate, most patients eventually relapse. dose-limiting toxicities of paclitaxel are neutropenia and neuropathy, but the inter-individual variability large. aim this prospective study was to investigate impact genetic variants key drug metabolizing/transporter genes on toxicity compliance. CYP2C8*3 three ABCB1 polymorphisms were chosen primary analysis,...