Anders Bojesen
A5035275384- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- BRCA gene mutations in cancer
- Hormonal and reproductive studies
- Sexual Differentiation and Disorders
- Nutrition, Genetics, and Disease
- Ovarian function and disorders
- Genetics, Bioinformatics, and Biomedical Research
- CRISPR and Genetic Engineering
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- HIV/AIDS drug development and treatment
- HIV-related health complications and treatments
- Ovarian cancer diagnosis and treatment
- HIV/AIDS Research and Interventions
- Genetic Syndromes and Imprinting
- Estrogen and related hormone effects
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Sperm and Testicular Function
- Male Breast Health Studies
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
Aarhus University Hospital
2007-2022
Vejle Sygehus
2009-2019
Lillebaelt Hospital
2010-2019
Aarhus University
2004-2017
Wellcome Sanger Institute
2017
University of Southern Denmark
2014-2016
Genetikum
2012-2016
Creative Commons
2015
University College London
2015
Aarhus Municipality
2003
The objective of this study was to describe the prevalence Klinefelter syndrome (KS) prenatally and postnatally in Denmark determine influence maternal age.
Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man; it affects approximately one 660 men and a common cause of hypogonadism infertility. Our current knowledge morbidity KS based on observational studies case reports therefore limited.We used Danish registers to obtain dates hospital admissions discharge diagnoses cohort all males diagnosed with Denmark randomly selected, age-matched control group. consisted 832 subjects 4033 subjects, contributing total 100,000...
Men with germline breast cancer 1, early onset (BRCA1) or 2, (BRCA2) gene mutations have a higher risk of developing prostate (PCa) than noncarriers. IMPACT (Identification genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium 62 centres 20 countries evaluating the use targeted PCa men mutations.
OBJECTIVE—Klinefelter’s syndrome is associated with an increased prevalence of diabetes, but the pathogenesis unknown. Accordingly, aim this study was to investigate measures insulin sensitivity, metabolic syndrome, and sex hormones in patients Klinefelter’s age-matched control group. RESEARCH DESIGN AN METHODS—In a cross-sectional study, we examined 71 whom 35 received testosterone treatment, subjects. Body composition evaluated using dual-energy X-ray absorptiometry scans. Fasting blood...
Abstract Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well in these two syndromes, while few studies describe the growth of higher grade sex chromosome aneuploidies. It has been proposed that tall aneuploidy related to an overexpression SHOX , although copy number not evaluated previous studies. Our aims were therefore: (1) assess 305 (2) determine...
Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man and a common cause of hypogonadism. To describe mortality KS, we conducted an epidemiological study, using Danish registers covering entire nation. We constructed cohort 781 boys men diagnosed with KS (from Cytogenetic Central Register) control group 3803 men, matched by month year birth. Vital status was obtained from Centralized Civil Register, causes death were National Register Causes Death. used Cox...
Sex hormones, adipokines, and ghrelin have been implicated in central control of appetite, energy homeostasis, maintenance fat mass, inflammation. Women tend to gain weight after menopause adipose tissue is a major source sex steroid postmenopause. Understanding the dynamics these analytes are particular importance postmenopausal women, who at greater risk for cardiometabolic diseases.This study sought evaluate associations adipokines with hormone concentrations women.We conducted...
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity data exists on the pathology cancers (BCs) in men BRCA1/2 mutations. Using largest available dataset, we determined whether MBCs arising mutation carriers display specific pathologic features and these differ from those female BCs (FBCs). We characterised 419 using logistic regression analysis, contrasted 9675 FBCs population-based 6351 Surveillance, Epidemiology,...
Klinefelter syndrome (KS) has a prevalence ranging from 85 to 250 per 100.000 newborn boys making it the most frequent sex chromosome aneuploidy in general population. The molecular basis for phenotypic traits and morbidity KS are not clarified. We performed genome-wide DNA methylation profiling of leucocytes peripheral blood samples 67 patients, male controls 33 female controls, addition RNA-sequencing subset 9 control males 13 controls. Characterization methylome as well transcriptome both...
Immunohistochemical staining for mismatch repair proteins is efficient and widely used to identify defective tumors. The tumors typically show uniform widespread loss of MMR protein staining. We identified characterized colorectal cancers with alternative, heterogenous in order delineate expression patterns underlying mechanisms.Heterogenous that affected at least one the MLH1, PMS2, MSH2 MSH6 were 14 cancers. Based on alternative macro-dissected micro-dissected tumor areas separately...
To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to general population.Register-based cohort study comparing incidence convictions among KS age- calendar-matched samples population. Crime was classified into eight types (sexual abuse, homicide, burglary, violence, traffic, drug-related, arson 'others').Denmark 1978-2006.All (N=934) (N=161) at risk their calendar-time-matched controls (N=88 979...
Abstract A locus at 19p13 is associated with breast cancer (BC) and ovarian (OC) risk. Here we analyse 438 SNPs in this region 46,451 BC 15,438 OC cases, 15,252 BRCA1 mutation carriers 73,444 controls identify 13 candidate causal serous ( P =9.2 × 10 −20 ), ER-negative =1.1 −13 -associated =7.7 −16 ) triple negative -diff=2 −5 ). Genotype-gene expression associations are identified for target genes ANKLE1 =2 −3 ABHD8 <2 Chromosome conformation capture identifies interactions between four...
Mortality among people with human immunodeficiency virus (HIV) declined the introduction of combination antiretroviral therapy. We investigated trends in mortality HIV from 1999 through 2020. Data were collected Collection on Adverse events Anti-HIV Drugs (D:A:D) cohort between January 2015 and International Cohort Consortium Infectious Disease (RESPOND) October 2017 December Age-standardized all-cause cause-specific rates, classified using Coding Causes Death HIV, calculated. Poisson models...
Klinefelter syndrome (KS) is associated with male infertility, hypogonadism, and learning disability. Morbidity mortality are increased the causes behind remain unknown. Is it chromosome aberration or caused by postulated poorer socioeconomic status?The aim of study was to profile in KS impact these factors on mortality.This a register using Danish nationwide registries. One thousand forty-nine men 100,824 controls were included. Information concerning cohabitation, fatherhoods, level...
Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding relationship between gene expression, brain structure, and subsequent cognitive disabilities psychiatric disorders. We conducted largest date voxel-based morphometry study 65 KS subjects controls matched for age education correlated these data neuropsychological test scores. The patients had significantly smaller total volume (TBV),...