Publikationen
Publikationen AG Sticht
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Two remarkable serine/leucine polymorphisms in Helicobacter pylori: functional importance for serine protease HtrA and adhesin BabA
In: Cell Communication and Signaling 22 (2024), Art.Nr.: 250
ISSN: 1478-811X
DOI: 10.1186/s12964-024-01635-5
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In Silico Study of Camptothecin-Based Pro-Drugs Binding to Human Carboxylesterase 2
In: Biomolecules 14 (2024), Art.Nr.: 153
ISSN: 2218-273X
DOI: 10.3390/biom14020153
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Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy
In: Brain 147 (2024), S. 3562-3572
ISSN: 0006-8950
DOI: 10.1093/brain/awae085
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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
In: American Journal of Human Genetics (2024)
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2024.07.016
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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
In: Human genetics (2024)
ISSN: 0340-6717
DOI: 10.1007/s00439-024-02688-9
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Closed Loop Molecular Communication Testbed: Setup, Interference Analysis, and Experimental Results
ICC 2024 - IEEE International Conference on Communications (Denver, CO, 9. Juni 2024 - 13. Juni 2024)
In: ICC 2024 - IEEE International Conference on Communications 2024
DOI: 10.1109/ICC51166.2024.10622231
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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
In: Human genetics 143 (2024), S. 455-469
ISSN: 0340-6717
DOI: 10.1007/s00439-024-02655-4
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A high proportion of germline variants in pediatric chronic myeloid leukemia
In: Molecular Cancer 23 (2024), Art.Nr.: 206
ISSN: 1476-4598
DOI: 10.1186/s12943-024-02109-5
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Light-dependent regulation of neurotransmitter release from rod photoreceptor ribbon synapses involves an interplay of Complexin 4 and Transducin with the SNARE complex
In: Frontiers in Molecular Neuroscience 17 (2024), Art.Nr.: 1308466
ISSN: 1662-5099
DOI: 10.3389/fnmol.2024.1308466
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Understanding the Cytomegalovirus Cyclin-Dependent Kinase Ortholog pUL97 as a Multifaceted Regulator and an Antiviral Drug Target
In: Cells 13 (2024), S. 1338
ISSN: 2073-4409
DOI: 10.3390/cells13161338
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The Autonomous Fusion Activity of Human Cytomegalovirus Glycoprotein B Is Regulated by Its Carboxy-Terminal Domain
In: Viruses 16 (2024), Art.Nr.: 1482
ISSN: 1999-4915
DOI: 10.3390/v16091482
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Cortactin-dependent control of Par1b-regulated epithelial cell polarity in Helicobacter infection
In: Cell Insight 3 (2024), Art.Nr.: 100161
ISSN: 2772-8927
DOI: 10.1016/j.cellin.2024.100161
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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
In: American Journal of Human Genetics 111 (2024), S. 1184-1205
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2024.04.014
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De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
In: Pediatric Neurology 148 (2023), S. 164-171
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2023.08.023
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Switchable Signaling Molecules for Media Modulation: Fundamentals, Applications, and Research Directions
In: IEEE Communications Magazine (2023), S. 1-7
ISSN: 0163-6804
DOI: 10.1109/MCOM.021.2300096
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Patch-clamp studies and cell viability assays suggest a distinct site for viroporin inhibitors on the E protein of SARS-CoV-2
In: Virology Journal 20 (2023), Art.Nr.: 142
ISSN: 1743-422X
DOI: 10.1186/s12985-023-02095-y
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Computational Analysis of Histamine Protonation Effects on H1R Binding
In: Molecules 28 (2023), Art.Nr.: 3774
ISSN: 1420-3049
DOI: 10.3390/molecules28093774
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Computational Characterization of the Binding Properties of the HIV1-Neutralizing Antibody PG16 and Design of PG16-Derived CDRH3 Peptides
In: Biology 12 (2023), Art.Nr.: 824
ISSN: 2079-7737
DOI: 10.3390/biology12060824
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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
In: Genetics in Medicine 25 (2023), Art.Nr.: 100885
ISSN: 1098-3600
DOI: 10.1016/j.gim.2023.100885
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The large GTPase AtGBPL3 links nuclear envelope formation and morphogenesis to transcriptional repression
In: Nature Plants (2023)
ISSN: 2055-0278
DOI: 10.1038/s41477-023-01400-5
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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
In: Genetics in Medicine 25 (2023), Art.Nr.: 100839
ISSN: 1098-3600
DOI: 10.1016/j.gim.2023.100839
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The Interactive Complex between Cytomegalovirus Kinase vCDK/pUL97 and Host Factors CDK7-Cyclin H Determines Individual Patterns of Transcription in Infected Cells.
In: International Journal of Molecular Sciences 24 (2023)
ISSN: 1422-0067
DOI: 10.3390/ijms242417421
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Cytomegalovirus cyclin-dependent kinase ortholog vCDK/pUL97 undergoes regulatory interaction with human cyclin H and CDK7 to codetermine viral replication efficiency
In: Virus Research 335 (2023), Art.Nr.: 199200
ISSN: 0168-1702
DOI: 10.1016/j.virusres.2023.199200
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A single-nucleotide polymorphism in Helicobacter pylori promotes gastric cancer development
In: Cell Host & Microbe 31 (2023), S. 1345-1358.e6
ISSN: 1931-3128
DOI: 10.1016/j.chom.2023.06.016
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The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort
In: European Journal of Human Genetics (2023)
ISSN: 1018-4813
DOI: 10.1038/s41431-023-01320-0
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Trimer stability of Helicobacter pylori HtrA is regulated by a natural mutation in the protease domain
In: Medical Microbiology and Immunology (2023)
ISSN: 0300-8584
DOI: 10.1007/s00430-023-00766-9
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De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
In: Genetics in Medicine 25 (2023)
ISSN: 1098-3600
DOI: 10.1016/j.gim.2023.100859
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A novel D-amino acid peptide with therapeutic potential (ISAD1) inhibits aggregation of neurotoxic disease-relevant mutant Tau and prevents Tau toxicity in vitro
In: Alzheimer's Research and Therapy 14 (2022)
ISSN: 1758-9193
DOI: 10.1186/s13195-022-00959-z
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Merging bioresponsive release of insulin-like growth factor I with 3D printable thermogelling hydrogels
In: Journal of Controlled Release 347 (2022), S. 115-126
ISSN: 0168-3659
DOI: 10.1016/j.jconrel.2022.04.028
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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
In: npj Genomic Medicine 7 (2022), Art.Nr.: 45
ISSN: 2056-7944
DOI: 10.1038/s41525-022-00316-x
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Media Modulation based Molecular Communication
In: IEEE Transactions on Communications (2022), S. 1-1
ISSN: 0090-6778
DOI: 10.1109/TCOMM.2022.3205949
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Viroporins: Structure, function, and their role in the life cycle of SARS-CoV-2
In: International Journal of Biochemistry and Cell Biology 145 (2022), Art.Nr.: 106185
ISSN: 1357-2725
DOI: 10.1016/j.biocel.2022.106185
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Effect of Ions and Sequence Variants on the Antagonist Binding Properties of the Histamine H1 Receptor
In: International Journal of Molecular Sciences 23 (2022), Art.Nr.: 1420
ISSN: 1422-0067
DOI: 10.3390/ijms23031420
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Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6
In: Clinical Genetics (2022)
ISSN: 0009-9163
DOI: 10.1111/cge.14173
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De novo missense variants in FBXO11 alter its protein expression and subcellular localization
In: Human Molecular Genetics 31 (2022), S. 440-454
ISSN: 0964-6906
DOI: 10.1093/hmg/ddab265
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Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2022
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The Oligomeric Assemblies of Cytomegalovirus Core Nuclear Egress Proteins Are Associated with Host Kinases and Show Sensitivity to Antiviral Kinase Inhibitors
In: Viruses 14 (2022), Art.Nr.: 1021
ISSN: 1999-4915
DOI: 10.3390/v14051021
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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
In: Brain (2022)
ISSN: 0006-8950
DOI: 10.1093/brain/awac074
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A novel splice variant of Argonaut 2 affects microRNA target genes and cell viability of melanoma cells
In: JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, HOBOKEN: 2022
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A previously unknown Argonaute 2 variant positively modulates the viability of melanoma cells
In: Cellular and Molecular Life Sciences 79 (2022), Art.Nr.: 475
ISSN: 1420-682X
DOI: 10.1007/s00018-022-04496-8
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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
In: European Journal of Human Genetics (2022)
ISSN: 1018-4813
DOI: 10.1038/s41431-022-01269-6
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'Shared-Hook' and 'Changed-Hook' Binding Activities of Herpesviral Core Nuclear Egress Complexes Identified by Random Mutagenesis
In: Cells 11 (2022)
ISSN: 2073-4409
DOI: 10.3390/cells11244030
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Characterization of SARS-CoV-2 Escape Mutants to a Pair of Neutralizing Antibodies Targeting the RBD and the NTD
In: International Journal of Molecular Sciences 23 (2022)
ISSN: 1422-0067
DOI: 10.3390/ijms23158177
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De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission
In: Annals of Neurology (2022)
ISSN: 0364-5134
DOI: 10.1002/ana.26485
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The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome
In: Clinical Genetics (2022)
ISSN: 0009-9163
DOI: 10.1111/cge.14206
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De novo variants in ATP2B1 lead to neurodevelopmental delay
In: American Journal of Human Genetics 109 (2022), S. 944-952
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2022.03.009
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
In: American Journal of Human Genetics 109 (2022), S. 1421-1435
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2022.06.008
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The crystal structure of the varicella-zoster Orf24-Orf27 nuclear egress complex spotlights multiple determinants of herpesvirus subfamily specificity
In: Journal of Biological Chemistry 298 (2022), Art.Nr.: 101625
ISSN: 0021-9258
DOI: 10.1016/j.jbc.2022.101625
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Highly Conserved Interaction Profiles between Clinically Relevant Mutants of the Cytomegalovirus CDK-like Kinase pUL97 and Human Cyclins: Functional Significance of Cyclin H
In: International Journal of Molecular Sciences 23 (2022), S. 11814
ISSN: 1422-0067
DOI: 10.3390/ijms231911814
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A newly identified secreted larval antigen elicits basophil-dependent protective immunity against N. brasiliensis infection
In: Frontiers in Immunology 13 (2022), Art.Nr.: 979491
ISSN: 1664-3224
DOI: 10.3389/fimmu.2022.979491
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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
In: European Journal of Human Genetics (2022)
ISSN: 1018-4813
DOI: 10.1038/s41431-022-01267-8
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De novo variants in the PABP domain of PABPC1 lead to developmental delay
In: Genetics in Medicine (2022)
ISSN: 1098-3600
DOI: 10.1016/j.gim.2022.04.013
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Smaller, Stronger, More Stable: Peptide Variants of a SARS-CoV-2 Neutralizing Miniprotein
In: International Journal of Molecular Sciences 23 (2022)
ISSN: 1422-0067
DOI: 10.3390/ijms23116309
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
In: European Journal of Human Genetics 29 (2021), S. 411-421
ISSN: 1018-4813
DOI: 10.1038/s41431-020-00749-x
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (Journal of Molecular Medicine, (2021), 10.1007/s00109-021-02124-9)
In: Journal of Molecular Medicine (2021)
ISSN: 0946-2716
DOI: 10.1007/s00109-021-02153-4
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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
In: Journal of Molecular Medicine (2021)
ISSN: 0946-2716
DOI: 10.1007/s00109-021-02124-9
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Homodimerization of a proximal region within the C-terminus of the orphan G-protein coupled receptor GPR179
In: Neurochemistry International 149 (2021), Art.Nr.: 105150
ISSN: 0197-0186
DOI: 10.1016/j.neuint.2021.105150
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Inhibition of SARS CoV Envelope Protein by Flavonoids and Classical Viroporin Inhibitors
In: Frontiers in Microbiology 12 (2021), Art.Nr.: 692423
ISSN: 1664-302X
DOI: 10.3389/fmicb.2021.692423
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Modulation of recombinant human alpha 1 glycine receptor by flavonoids and gingerols
In: Biological Chemistry (2021)
ISSN: 1431-6730
DOI: 10.1515/hsz-2020-0360
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Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP sydrome) caused by a novel mutation in ADPRHL2 (AHR3)
In: Neurological Sciences (2021)
ISSN: 1590-1874
DOI: 10.1007/s10072-021-05100-w
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Specific engineered G protein coupling to histamine receptors revealed from cellular assay experiments and accelerated molecular dynamics simulations
In: International Journal of Molecular Sciences 22 (2021), Art.Nr.: 10047
ISSN: 1422-0067
DOI: 10.3390/ijms221810047
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Properties of Oligomeric Interaction of the Cytomegalovirus Core Nuclear Egress Complex (NEC) and Its Sensitivity to an NEC Inhibitory Small Molecule
In: Viruses 13 (2021)
ISSN: 1999-4915
DOI: 10.3390/v13030462
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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2020), 10.1038/s41436-020-01020-w)
In: Genetics in Medicine (2021)
ISSN: 1098-3600
DOI: 10.1038/s41436-020-01090-w
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Characterizing the interaction between the htlv-1 transactivator tax-1 with transcription elongation factor ell2 and its impact on viral transactivation
In: International Journal of Molecular Sciences 22 (2021), Art.Nr.: 13597
ISSN: 1422-0067
DOI: 10.3390/ijms222413597
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N-Terminus to Arginine Side-Chain Cyclization of Linear Peptidic Neuropeptide y Y4Receptor Ligands Results in Picomolar Binding Constants
In: Journal of Medicinal Chemistry 64 (2021), S. 16746-16769
ISSN: 0022-2623
DOI: 10.1021/acs.jmedchem.1c01574
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Potent Tau Aggregation Inhibitor D-Peptides Selected against Tau-Repeat 2 Using Mirror Image Phage Display
In: ChemBioChem (2021)
ISSN: 1439-4227
DOI: 10.1002/cbic.202100287
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A pair of non‐competing neutralizing human monoclonal antibodies protecting from disease in a SARS‐CoV‐2 infection model
In: European Journal of Immunology (2021), Art.Nr.: eji.202149374
ISSN: 0014-2980
DOI: 10.1002/eji.202149374
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Matricellular Protein SPARCL1 Regulates Blood Vessel Integrity and Antagonizes Inflammatory Bowel Disease
In: Inflammatory Bowel Diseases (2021)
ISSN: 1078-0998
DOI: 10.1093/ibd/izaa346
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
In: American Journal of Human Genetics 108 (2021), S. 2006-2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2021.08.003
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Clinical and molecular delineation of spondylocostal dysostosis type 3
In: Clinical Genetics (2021)
ISSN: 0009-9163
DOI: 10.1111/cge.13952
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Functional Relevance of the Interaction between Human Cyclins and the Cytomegalovirus-Encoded CDK-Like Protein Kinase pUL97
In: Viruses 13 (2021), S. 1248
ISSN: 1999-4915
DOI: 10.3390/v13071248
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Computational decomposition reveals reshaping of the SARS‐CoV‐2–ACE2 interface among viral variants expressing the N501Y mutation
In: Journal of Cellular Biochemistry (2021)
ISSN: 0730-2312
DOI: 10.1002/jcb.30142
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Mutations in the B.1.1.7 SARS-CoV-2 Spike Protein Reduce Receptor-Binding Affinity and Induce a Flexible Link to the Fusion Peptide
In: Biomedicines 9 (2021)
ISSN: 2227-9059
DOI: 10.3390/biomedicines9050525
URL: https://www.mdpi.com/2227-9059/9/5/525/xml
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Molecular Simulations and Alzheimer׳s Disease
In: Olaf Wolkenhauer (Hrsg.): Systems Medicine: Integrative, qualitative, and computational approaches, Amsterdam: Elsevier, 2021, S. 54-70
ISBN: 9780128160787
DOI: 10.1016/B978-0-12-801238-3.11541-7
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A novel strain-specific neutralizing epitope on glycoprotein H of human cytomegalovirus
In: Journal of Virology 95 (2021), Art.Nr.: e00657-21
ISSN: 0022-538X
DOI: 10.1128/JVI.00657-21
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
In: Genetics in Medicine (2021)
ISSN: 1098-3600
DOI: 10.1038/s41436-021-01158-1
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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
In: Human Mutation (2020)
ISSN: 1059-7794
DOI: 10.1002/humu.24067
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
In: Genetics in Medicine (2020)
ISSN: 1098-3600
DOI: 10.1038/s41436-020-01011-x
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Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2020
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A proline-rich motif in the large intracellular loop of the glycine receptor α1 subunit interacts with the Pleckstrin homology domain of collybistin
In: Journal of Advanced Research (2020)
ISSN: 2090-1232
DOI: 10.1016/j.jare.2020.09.009
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Agonist binding and g protein coupling in histamine h2 receptor: A molecular dynamics study
In: International Journal of Molecular Sciences 21 (2020), S. 1-18
ISSN: 1422-0067
DOI: 10.3390/ijms21186693
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Transfer of htlv-1 p8 and gag to target t-cells depends on vasp, a novel interaction partner of p8
In: PLoS Pathogens 16 (2020), Art.Nr.: e1008879
ISSN: 1553-7366
DOI: 10.1371/journal.ppat.1008879
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Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine
In: Acta Neurologica Belgica (2020)
ISSN: 0300-9009
DOI: 10.1007/s13760-020-01505-0
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EPISODIC PSYCHOSIS, ATAXIA, MOTOR NEUROPATHY CAUSED BY A NOVEL MUTATION IN ADPRHL2
Annual Meeting of the American-Academy-of-Neurology (Toronto, CANADA, 25. April 2020 - 1. Mai 2020)
In: NEUROLOGY, PHILADELPHIA: 2020
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Loss of PHF6 leads to aberrant development of human neuron-like cells
In: Scientific Reports 10 (2020), Art.Nr.: 19030
ISSN: 2045-2322
DOI: 10.1038/s41598-020-75999-2
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Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis
In: Journal of Investigative Dermatology (2020)
ISSN: 0022-202X
DOI: 10.1016/j.jid.2019.11.024
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The CD83 Molecule – An Important Immune Checkpoint
In: Frontiers in Immunology 11 (2020), Art.Nr.: 721
ISSN: 1664-3224
DOI: 10.3389/fimmu.2020.00721
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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
In: American Journal of Human Genetics 107 (2020), S. 527-538
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2020.07.001
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Fine-Tuning of Neuronal Ion Channels-Mapping of Residues Involved in Glucose Sensitivity of Recombinant Human Glycine Receptors
In: Acs Chemical Neuroscience (2020)
ISSN: 1948-7193
DOI: 10.1021/acschemneuro.0c00566
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Common RUNX3 missense variant contributes to psoriatic arthritis by affecting splicing and modifying signaling, activation and differentiation of T-cells
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2020
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
In: Genetics in Medicine (2020)
ISSN: 1098-3600
DOI: 10.1038/s41436-020-01020-w
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Nuclear Egress Complexes of HCMV and Other Herpesviruses: Solving the Puzzle of Sequence Coevolution, Conserved Structures and Subfamily-Spanning Binding Properties
In: Viruses 12 (2020)
ISSN: 1999-4915
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High-resolution crystal structures of two prototypical β- And γ-herpesviral nuclear egress complexes unravel the determinants of subfamily specificity
In: Journal of Biological Chemistry 295 (2020), S. 3189-3201
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Further clinical and molecular delineation of spondylocostal dysostosis type 3
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2020
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The peptidyl-prolyl cis/trans isomerase Pin1 interacts with three early regulatory proteins of human cytomegalovirus
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Campylobacter jejuni Serine Protease HtrA Cleaves the Tight Junction Component Claudin-8
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A Survey of Biological Building Blocks for Synthetic Molecular Communication Systems
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Toll-like Receptor 5 Activation by the CagY Repeat Domains of Helicobacter pylori
In: Cell Reports 32 (2020), Art.Nr.: 108159
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Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2020
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Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2020
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The functional consequences of SCN2A mutations determine the phenotype
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) (Milan, 16. Juni 2018 - 19. Juni 2018)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
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Whole-exome sequencing identifies novel causative variants and expands the phenotypic spectrum of PLK4-related primary microcephaly
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) (Milan, ITALY)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
52nd Conference of the European-Society-of-Human-Genetics (ESHG) (Gothenburg, SWEDEN, 15. Juni 2019 - 18. Juni 2019)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
In: Genetics in Medicine 21 (2019), S. 2043-2058
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Campylobacter jejuni enters gut epithelial cells and impairs intestinal barrier function through cleavage of occludin by serine protease HtrA
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Exploring the phenotypical spectrum of BRD4 defects
52nd Conference of the European-Society-of-Human-Genetics (ESHG) (Gothenburg, SWEDEN, 15. Juni 2019 - 18. Juni 2019)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
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Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis
52nd Conference of the European-Society-of-Human-Genetics (ESHG) (Gothenburg, SWEDEN, 15. Juni 2019 - 18. Juni 2019)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
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Solution structure of the autophagy-related protein LC3C reveals a polyproline II motif on a mobile tether with phosphorylation site
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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
52nd Conference of the European-Society-of-Human-Genetics (ESHG) (Gothenburg, 15. Juni 2019 - 18. Juni 2019)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
DOI: 10.1093/brain/awz198
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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
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A Multiple Piccolino-RIBEYE Interaction Supports Plate-Shaped Synaptic Ribbons in Retinal Neurons
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and high-resolution copy number study
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) (Milan, ITALY, 16. Juni 2018 - 19. Juni 2018)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
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De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies
52nd Conference of the European-Society-of-Human-Genetics (ESHG) (Gothenburg, SWEDEN, 15. Juni 2019 - 18. Juni 2019)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
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Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
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Phenotype of the first patient harboring a de novo in-frame deletion in the LisH (LIS1 homology) domain of the WDR26 gene
52nd Conference of the European-Society-of-Human-Genetics (ESHG) (Gothenburg, SWEDEN, 15. Juni 2019 - 18. Juni 2019)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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Cyclins B1, T1, and H differ in their molecular mode of interaction with cytomegalovirus protein kinase pUL97
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De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) (Milan, ITALY, 16. Juni 2018 - 19. Juni 2018)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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T4SS-dependent TLR5 activation by Helicobacter pylori infection
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A Metadynamics-Based Protocol for the Determination of GPCR-Ligand Binding Modes
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SPARCL1 is an angiocrine inhibitor of tumorigenesis in colorectal carcinoma
AACR Annual Meeting on Bioinformatics, Convergence Science, and Systems Biology (Atlanta, GA, 29. März 2019 - 3. April 2019)
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Identification of novel candidate genes for idiopathic short stature using whole exome sequencing
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) (Milan, ITALY, 16. Juni 2018 - 19. Juni 2018)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
52nd Conference of the European-Society-of-Human-Genetics (ESHG) (Gothenburg, SWEDEN, 15. Juni 2019 - 18. Juni 2019)
In: EUROPEAN JOURNAL OF HUMAN GENETICS, LONDON: 2019
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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
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Amino-Terminal Processing of Helicobacter pylori Serine Protease HtrA: Role in Oligomerization and Activity Regulation
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Conformational Dynamics of Herpesviral NEC Proteins in Different Oligomerization States
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
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The degenerin region of the human bile acid-sensitive ion channel (BASIC) is involved in channel inhibition by calcium and activation by bile acids.
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The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
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Human Cytomegalovirus Nuclear Capsids Associate with the Core Nuclear Egress Complex and the Viral Protein Kinase pUL97
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Structure-based functional analysis of effector protein SifA in living cells reveals motifs important for Salmonella intracellular proliferation
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Probing the role of intercalating protein sidechains for kink formation in DNA
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Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism
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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
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Binding of histamine to the H1 receptora molecular dynamics study
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Interaction of Glycolipids with the Macrophage Surface Receptor Mincle - a Systematic Molecular Dynamics Study
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IFN-γ-response mediator GBP-1 represses human cell proliferation by inhibiting the Hippo signaling transcription factor TEAD
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The C-terminal coiled-coil domain of Corynebacterium diphtheriae DIP0733 is crucial for interaction with epithelial cells and pathogenicity in invertebrate animal model systems
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Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
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Protective capacity of neutralizing and non-neutralizing antibodies against glycoprotein B of cytomegalovirus
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
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Crystal Structure of the Extracellular Domain of the Human Dendritic Cell Surface Marker CD83
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A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
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The human cytomegalovirus nuclear egress complex unites multiple functions: Recruitment of effectors, nuclear envelope rearrangement, and docking to nuclear capsids
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The genetic basis for most patients with pustular skin disease remains elusive
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Structural and functional dissection reveals distinct roles of Ca2+-binding sites in the giant adhesin SiiE of Salmonella enterica
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Structural and functional dissection reveals distinct roles of Ca2+-binding sites in the giant adhesin SiiE of Salmonella enterica
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Probing the potential of CnaB-type domains for the design of tag/catcher systems
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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
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