A5091727806- Reproductive Biology and Fertility
- Sperm and Testicular Function
- Animal Genetics and Reproduction
- Ovarian function and disorders
- CRISPR and Genetic Engineering
- Regulation of Appetite and Obesity
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Pluripotent Stem Cells Research
- Neurotransmitter Receptor Influence on Behavior
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- ATP Synthase and ATPases Research
- Receptor Mechanisms and Signaling
- Mechanisms of cancer metastasis
- RNA modifications and cancer
- Neurological diseases and metabolism
- Genomics and Chromatin Dynamics
- Photosynthetic Processes and Mechanisms
- Neonatal Health and Biochemistry
- Congenital heart defects research
- Coenzyme Q10 studies and effects
- Chromosomal and Genetic Variations
- Biomedical Ethics and Regulation
- Biomedical Research and Pathophysiology
Heinrich Heine University Düsseldorf
2022-2025
Deutsches Diabetes-Zentrum e.V.
2022-2025
German Center for Diabetes Research
2022-2025
Helmholtz Zentrum München
2019-2024
Centre for Human Genetics
2017-2023
University of Oxford
2017-2022
University of Regensburg
2018
Instituto Valenciano de Investigaciones Agrarias
1970-2015
Hearing4all
2015
BioTalentum (Hungary)
2012-2013
Highlights•Global and hypothalamic Cited1 loss exacerbates diet-induced obesity in female mice•Cited1 is highly enriched estradiol-sensitive melanocortin neurons•Hypothalamic molecularly links the effects of E2 leptin on food intake•Cited1 PomcARC neurons acts as a downstream co-factor for E2-leptin signalingSummaryUntil menopause, women have lower propensity to develop metabolic diseases than men, suggestive protective role sex hormones. Although functional synergy between central actions...
Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of genetic order characterized by renal Fanconi syndrome failure.Methods We clinically genetically members five families autosomal dominant failure. performed genome-wide linkage analysis, sequencing, expression studies in biopsy specimens cells along knockout mouse evaluations mitochondrial morphology function. Structural examined effects recognized...
Abstract Metabolic flexibility in skeletal muscle is essential for maintaining healthy glucose and lipid metabolism, its dysfunction closely linked to metabolic diseases. Exercise enhances flexibility, making it an important tool discovering mechanisms that promote health. Here we show pantothenate kinase 4 (PanK4) a new conserved exercise target with high abundance muscle. Muscle-specific deletion of PanK4 impairs fatty acid oxidation which related higher intramuscular acetyl-CoA...
Oviductal microenvironment generally provides better conditions for early embryo development than the conventional in vitro system. In an attempt to simulate oviduct or main potentially influencing factors, effect was studied of a bovine oviductal fluid (bOF) treatment applied prior IVF on (i) parameters, (ii) cleavage rate, (iii) blastocyst yield and (iv) quality. Embryo quality assessed by morphological relative transcript abundance several developmental genes blastocysts. Furthermore,...
Members of the Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) protein family are associated with multiple neurodevelopmental disorders, although their exact roles in disease remain unclear. For example, nuclear receptor coactivator 7 (NCOA7) has been autism, almost nothing is known regarding mode-of-action this TLDc nervous system. Here we investigated molecular function NCOA7 neurons and generated a novel mouse model to determine consequences deleting locus vivo. We show...
Contents Melatonin may play an important role in protecting gametes and embryos from the potential harmful effects of oxidative stress. In this study, we first examined two different heat stress ( HS ) treatments for vitro oocyte maturation E xperiment 1: 38.5 vs 41.0°C, during 20 h; 2: 41.5°C, entire period) on bovine embryo development. Second, tested melatonin concentrations added to culture medium 3: 0, 10 −12 , −9 −4 m ; 4: −3 ), both with without (38.5 or respectively). 1, treatment...
A large body of evidence highlights the importance genetic variants in development psychiatric and metabolic conditions. Among these, TaqIA polymorphism is one most commonly studied psychiatry. located gene that codes for ankyrin repeat kinase domain containing 1 (Ankk1) near dopamine D2 receptor (D2R) gene. Homozygous expression A1 allele correlates with a 30% to 40% reduction striatal D2R, typical feature addiction, overeating, other pathologies. The mechanisms by which variant influences...
When embryos are cultured individually or in small groups, blastocyst yield efficiency and quality usually reduced. The aim of this work was to investigate the effect supplementation embryo culture medium (CM) with several growth factors (GFs) on development apoptosis rate when a reduced number were vitro cultured. Two experimental studies (ES) carried out. In ES 1, five treatments tested study GF development: Control (∼30 50 500 μl CM); 5 (Five microdrops CM), without addition either two...
Calcium (Ca2+) influx into mitochondria occurs through a Ca2+-selective uniporter channel, which regulates essential cellular processes in eukaryotic organisms. Previous evolutionary analyses of its pore-forming subunits MCU and EMRE, gatekeeper MICU1, pinpointed an paradox: the presence homologs fungal species devoid any other components mt-Ca2+ uptake. Here, we trace evolution across 1,156 fully-sequenced eukaryotes show that animal MCUs represent two distinct paralogous subfamilies...
The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. precise mechanisms endocytosis processing receptors cargo are incompletely understood. EHD1 belongs family presumably involved scission intracellular vesicles ciliogenesis. However, relevance human tissues, particular kidney, was unknown.
Abstract Sterility or subfertility of male hybrid offspring is commonly observed. This phenomenon contributes to reproductive barriers between the parental populations, an early step in process speciation. One frequent cause such infertility a failure proper chromosome pairing during meiosis. In subspecies house mouse, likelihood successful synapsis improved by binding histone methyltransferase PRDM9 both homologs at matching positions. Using genetic manipulation, we altered occur more often...
Genome manipulation in the mouse via microinjection of CRISPR/Cas9 site-specific nucleases has allowed production time for genetically modified models to be significantly reduced. Successful genome already been reported using Cas9 supplied by a DNA construct, vitro transcribed mRNA and recombinant protein. Recently use transgenic strains mice overexpressing shown facilitate mutagenesis maternal supply zygotes this route may provide an alternative exogenous supply. We have investigated...
The aim of this study was to identify the in vitro development stage at which culture a single or low number (n = 5 10) oocytes/embryos could impair comparison with group 50). In Experiment 1, it confirmed that embryo production yielded lower cleavage and blastocyst rates than (49.4 vs. 83.0%; 0% 37.8%, respectively; p < 0.05). 2 3, observed no effect on culturing oocytes during maturation fertilization, respectively. 4, detrimental rate when cultured embryos post-fertilization (2.9;...
Currently, in vitro-produced embryos derived by ovum pick up (OPU) and vitro fertilization (IVF) technologies represent approximately one-third of the worldwide cattle. Nevertheless, culture small groups from an individual egg donor is issue that OPU-IVF laboratories have to face. In this work, we tested whether development quality preimplantation cultured low numbers (five embryos) could be improved addition epidermal growth factor, insulin, transferrin selenium (EGF-ITS) or WOW system....
In pigs, intracytoplasmic sperm injection (ICSI) efficiency is still poor. The inadequate decondensation of the chromatin, its transformation into male pronucleus (MPN) together with subsequent inability to activate oocyte, seem be main causes low ICSI efficiency. order improve MPN formation we took two different approaches. On one hand, in vitro culture (IVC) medium post-ICSI was supplemented 1.71mM cysteine (CYS). Alternatively, membrane digested Triton X-100 (TX) before ICSI, exposure...
Abstract Peripheral tolerance prevents the initiation of damaging immune responses by autoreactive lymphocytes. While tolerogenic mechanisms are tightly regulated antigen-dependent and independent signals, downstream pathways incompletely understood. N-myc downstream-regulated gene 1 (NDRG1), an anti-cancer therapeutic target, has previously been implicated as a CD4 + T cell clonal anergy factor. By RNA-sequencing, we identified Ndrg1 third most upregulated in anergic, compared to naïve...
Spermatogenesis is a crucial biological process that enables the production of functional sperm, allowing for successful reproduction. Proper germ cell differentiation and maturation require tight regulation hormonal signals, cellular signaling pathways, processes. The acrosome lysosome-related organelle at anterior sperm head contains enzymes receptors essential egg-sperm recognition fusion. Even though several factors biogenesis have been discovered, precise molecular mechanism...
Normal function of the C-terminal Eps15 homology domain-containing protein 1 (EHD1) has previously been associated with endocytic vesicle trafficking, shaping intracellular membranes, and ciliogenesis. We recently identified an autosomal recessive missense mutation c.1192C&gt;T (p.R398W) EHD1 in patients who had low molecular weight proteinuria (0.7–2.1 g/d) high-frequency hearing loss. It was already known from Ehd1 knockout mice that inactivation can lead to male infertility. However,...
Abstract Mitochondrial calcium (mt-Ca 2+ ) uptake is central for the regulation of numerous cellular processes in eukaryotes 1 . This occurs through a highly selective Ca uniporter located at inner mitochondrial membrane and driven by potential 2–4 While physiological role was extensively studied decades, its genetic identity only recently determined, with MCU 5,6 , MICU1 7 EMRE 8 constituting pore-forming regulatory subunits. Preliminary evolutionary analyses suggested an ancient eukaryotic...