A5073052255- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Genetics and Neurodevelopmental Disorders
- Sperm and Testicular Function
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- Williams Syndrome Research
- Sexual Differentiation and Disorders
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Wnt/β-catenin signaling in development and cancer
- Animal Genetics and Reproduction
- Advanced biosensing and bioanalysis techniques
- Genetic Syndromes and Imprinting
- Nuclear Receptors and Signaling
- Immune cells in cancer
- Pluripotent Stem Cells Research
- Genetics, Aging, and Longevity in Model Organisms
- FOXO transcription factor regulation
- 14-3-3 protein interactions
- Cardiac Valve Diseases and Treatments
- Obsessive-Compulsive Spectrum Disorders
University Medical Center Freiburg
2018-2024
University of Freiburg
1997-2024
University of Göttingen
2001-2002
Universität Ulm
2002
Max Planck Society
1995
In order to assess the role of binucleate giant oocytes for generating digynic triploidy, we studied their frequency, maturation patterns and chromosomal complements at metaphase II (MII) or after fertilization.Uncleaved, zygotes were incubated with podophyllotoxin vinblastine, treated hypotonic solution fixed by a gradual fixation method. Giant MII directly subjected treatment. The chromosomes stained Giemsa.A total 7065 collected during study period, which 18 (0.26%) classified as cells....
We have isolated a human genomic and cDNA clone that encodes protein of 403 amino acids belongs to the family FOX transcription factors (previously called HNF-3/forkhead factors). The 2.7-kb transcript FOXQ1 gene is expressed predominantly in stomach, trachea, bladder salivary gland. Additionally, overexpression was shown colorectal adenocarcinoma lung carcinoma cell lines. located on chromosome 6p23-25. Databank analysis shows 82% homology with mouse Foxq1 (formerly Hfh-1L) revised sequence...
Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1. A complex chromosomal rearrangement leading to MFS has only been reported one case so far. We report mother and daughter with marfanoid habitus no pathogenic variant FBN1 after next generation sequencing (NGS) analysis, both showing cytogenetically reciprocal balanced translocation between chromosomes 2 15. By means of fluorescence...
Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, authors present a syndromal form of short QT syndrome in 34-year-old German male patient with extracardiac features predominant psychiatric manifestation, namely severe secondary high-functioning autism spectrum disorder (ASD), along affective and psychotic exacerbations, dental enamel defects (with rapid wearing off his teeth) due to heterozygous loss-of-function mutation CACNA1C gene (NM_000719.6:...
We have isolated the prosimian lemur homologues for STS and SRY. FISH unambiguously co-localized with SHOX, IL3RA, ANT3 PRK into meiotic X-Y pairing region (PAR) of lemurs. In contrast to close proximity SRY pseudoautosomal boundary (PAB) on Y chromosome in simian primates, maps distant from PAR Most interestingly, we were able determine a DNA sequence divergence 12.5% between human HMG box. This directs 52 million year period separate evolution genes. Phylogenetically, this time falls times...
Mutations in voltage-gated sodium channel (SCN) genes are supposed to be of importance the etiology psychiatric and neurological diseases, particular seizures. Previous studies report a potential susceptibility region at chromosomal locus 2q including SCN1A, SCN2A SCN3A for autism spectrum disorder (ASD). To date, there is no previous description patient with comorbid ASD Tourette syndrome showing deletion containing SCN3A.We present unique complex case 28-year-old male suffering from...
The FTZ-F1-related nuclear orphan receptors xFF1rA and B were identified previously in Xenopus laevis by cDNA cloning. In addition to two cDNAs that encode full-length receptor proteins, a third encodes form of truncated at the C terminus. Transcripts encoding short are present much lower levels than mRNAs receptors. Significant activation reporter genes xFF1rA-transfected HeLa cells requires or more copies FTZ-F1-responsive element (FRE). However, vitro, recombinant protein binds FRE...
Recently, we reported the isolation of a new subfamily serine-threonine protein kinases. This was shown to consist at least four members. Sequencing and FISH mapping all 4 members now reveals that Y-homolog (PRKY) previously mapped PRKX gene (Xp22.3) is located in Yp11.2, close vicinity AMELY. The other two copies reside on Xq112→q13(PRKXP2) 15q26(PRKXP1, containing CA repeat STS D15S87) represent pseudogenes.
RNA-binding proteins are involved in post-transcriptional processes like mRNA stabilization, modification, and transport have been suggested to play an important role developmental gene regulation. We report here the cloning characterization of <i>Brunol4</i>, a novel mouse cDNA closely related elav-type family genes encoding for subfamily recently named after <i>bruno</i> Drosophila. Murine <i>Brunol4</i> is localized near centromere chromosome 18. The...
The CRISPR-Cas12a platform has attracted interest in the genome editing community because prototypical Acidaminococcus Cas12a generates a staggered DNA double-strand break upon binding to an AT-rich protospacer-adjacent motif (PAM, 5'-TTTV). broad application of primary human cells was enabled by development engineered version natural protein, called Ultra. In this study, we confirmed that Ultra ribonucleoprotein complexes allelic gene disruption frequencies over 90% at multiple target sites...
Inherited defects in MyD88 and IRAK4, two regulators Toll-like receptor (TLR) signaling, are clinically highly relevant, but still incompletely understood. MyD88- IRAK4-deficient patients exceedingly susceptible to a narrow spectrum of pathogens, with ∼50% lethality the first years life. To better understand underlying molecular cellular characteristics that determine disease progression, we aimed at modeling response pathogens vitro . this end, determined immunophenotype monocytes...
We report on the characterization of a de novo, apparently balanced translocation t(X;15)(p11.3;q26) detected in girl with multiple congenital malformations. Replication banding studies Epstein-Barr virus transformed peripheral blood lymphocytes revealed non-random X chromosome inactivation predominant derivative chromosome. Using chromosomal fluorescence situ hybridization (FISH), we located breakpoints to 30 kb region short arm band p11.3 and 160 defined by BAC RP11-89K11 long 15. Our data...
<title>Abstract</title> Background The development of the CRISPR-Cas12a platform has generated considerable interest in genome editing community. Due to its AT-rich protospacer-adjacent motif (PAM, 5’-TTTV), Cas12a increased potential number targetable sites for gene beyond that prototypical<italic>Streptococcus pyogenes</italic>CRISPR-Cas9 system. Moreover, evaluation off-target activity nucleases suggested high specificity platform. Broad application primary human cells was recently...
Background: Schizophrenic disorders are common and debilitating due to their symptoms, which can include delusions, hallucinations, other negative symptoms. Organic forms result from various cerebral disorders. In this paper, we discuss a potential association between schizophrenia hereditary polyneuropathies (PNPs). Case presentation: We present the case of 55-year-old female patient with chronically paranoid-hallucinatory schizophrenia, severe cognitive deficits since age 30, comorbid...