Search Results - "Heimbach, André"
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Multi-omics signatures of alcohol use disorder in the dorsal and ventral striatum
Published in Translational psychiatry (06-05-2022)“…Alcohol Use Disorder (AUD) is a major contributor to global mortality and morbidity. Postmortem human brain tissue enables the investigation of molecular…”
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The severity of human peri‐implantitis lesions correlates with the level of submucosal microbial dysbiosis
Published in Journal of clinical periodontology (01-12-2018)“…Aim To cross‐sectionally analyse the submucosal microbiome of peri‐implantitis (PI) lesions at different severity levels. Materials and Methods Microbial…”
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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2 , encoding a lysosomal type 5 P-type ATPase
Published in Nature genetics (01-10-2006)“…Neurodegenerative disorders such as Parkinson and Alzheimer disease cause motor and cognitive dysfunction and belong to a heterogeneous group of common and…”
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F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis
Published in Frontiers in genetics (29-05-2019)“…Diverse DNA structural variations (SVs) in human cancers and several other diseases are well documented. For genomic inversions in particular, the disease…”
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Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2 : results of the observational AGO-TR1 study (NCT02222883)
Published in Journal of medical genetics (01-03-2022)“…Variant-specific loss of heterozygosity (LOH) analyses may be useful to classify germline variants of unknown significance (VUS). The sensitivity and…”
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Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
Published in Human mutation (01-08-2011)“…Kufor‐Rakeb syndrome (KRS) is a rare form of autosomal recessive juvenile or early‐onset, levodopa responsive parkinsonism and has been associated with…”
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A Resilience Related Glial-Neurovascular Network Is Transcriptionally Activated after Chronic Social Defeat in Male Mice
Published in Cells (Basel, Switzerland) (27-10-2022)“…Upon chronic stress, a fraction of individuals shows stress resilience, which can prevent long-term mental dysfunction. The underlying molecular mechanisms are…”
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Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly
Published in Seizure (London, England) (01-03-2019)“…Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential…”
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CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)
Published in Nephrology, dialysis, transplantation (01-06-2012)“…Recently, we identified a microduplication in chromosomal band 1q21.1 encompassing the CHD1L/ALC1 gene encoding a chromatin-remodelling enzyme in congenital…”
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Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)
Published in PloS one (20-10-2017)“…Identification of families at risk for ovarian cancer offers the opportunity to consider prophylactic surgery thus reducing ovarian cancer mortality. So far,…”
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Investigation of Cell-Contact Dependent Alterations in Immune Synapse Formation between T Cells and BCP-ALL Cells
Published in Blood (13-11-2019)“…Cancer-development is often associated with a state of immune attenuation and impaired antigen-recognition, contributing to the failure of immune surveillance…”
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Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting
Published in Clinical infectious diseases (23-03-2022)“…Abstract Background Tracing of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) transmission chains is still a major challenge for public health…”
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Integrated genomic surveillance enables tracing of person-to-person SARS-CoV-2 transmission chains during community transmission and reveals extensive onward transmission of travel-imported infections, Germany, June to July 2021
Published in Euro surveillance : bulletin européen sur les maladies transmissibles (27-10-2022)“…Background Tracking person-to-person SARS-CoV-2 transmission in the population is important to understand the epidemiology of community transmission and may…”
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14
BRCA -like classification in ovarian cancer: Results from the AGO-TR1-trial
Published in Journal of clinical oncology (20-05-2017)“…Abstract only 5546 Background: BRCA associated cancers show a distinct pattern of genomic gains and losses that is associated with impaired repair of DNA…”
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15
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores
Published in Molecular genetics & genomic medicine (01-03-2023)“…Background Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40…”
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Next-generation sequencing in BRCA1/2 -negative breast and ovarian cancer families
Published in Journal of clinical oncology (20-05-2016)“…Abstract only…”
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Incidence of germline mutations in risk genes including BRCA1/2 in consecutive ovarian cancer (OC) patients (AGO TR-1)
Published in Journal of clinical oncology (20-05-2016)“…Abstract only…”
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Prevalence of somatic mutations in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1 study)
Published in Journal of clinical oncology (20-05-2016)“…Abstract only…”
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