Browsing by Author "Hecht, Jochen"

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  • A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes
    Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Publishing Group, 2017)
    Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different ...
  • A global metagenomic map of urban microbiomes and antimicrobial resistance
    Danko, David; Hecht, Jochen; Mutai, Beth; Ossowski, Stephan; International MetaSUB Consortium (Elsevier, 2021)
    We present a global atlas of 4,728 metagenomic samples from mass-transit systems in 60 cities over 3 years, representing the first systematic, worldwide catalog of the urban microbial ecosystem. This atlas provides an ...
  • BKV clearance time correlates with exhaustion state and T-cell receptor repertoire shape of BKV-specific T-cells in renal transplant patients
    Stervbo, Ulrik; Nienen, Mikalai; Weist, Benjamin J. D.; Kuchenbecker, Leon; Hecht, Jochen; Wehler, Patrizia; Westhoff, Timm H.; Reinke, Petra; Babel, Nina (Frontiers Media, 2019)
    Reactivation of the BK polyomavirus is known to lead to severe complications in kidney transplant patients. The current treatment strategy relies on decreasing the immunosuppression to allow the immune system to clear the ...
  • Citizen science charts two major "stomatotypes" in the oral microbiome of adolescents and reveals links with habits and drinking water composition
    Willis, Jesse R.; González-Torres, Pedro; Pittis, Alexandros, 1982-; Bejarano, Luis A.; Cozzuto, Luca; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Valentín, Antònia; Ksiezopolska, Ewa; Company, Carlos; Onywera, Harris; Montfort, Magda; Hermoso Pulido, Antonio; Iraola Guzman, Susana; Saus Martínez, Ester; Labeeuw, Annick; Carolis, Carlo; Hecht, Jochen; Ponomarenko, Julia; Gabaldón Estevan, Juan Antonio, 1973- (BioMed Central, 2018)
    Background: The oral cavity comprises a rich and diverse microbiome, which plays important roles in health and disease. Previous studies have mostly focused on adult populations or in very young children, whereas the ...
  • Citizen-science based study of the oral microbiome in Cystic fibrosis and matched controls reveals major differences in diversity and abundance of bacterial and fungal species
    Willis, Jesse R.; Saus Martínez, Ester; Iraola Guzman, Susana; Cabello-Yeves, Elena; Ksiezopolska, Ewa; Cozzuto, Luca; Bejarano, Luis A.; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Blanco, Andrea; Puig-Sola, Anna; Broglio, Elisabetta; Carolis, Carlo; Ponomarenko, Julia; Hecht, Jochen; Gabaldón Estevan, Juan Antonio, 1973- (Taylor & Francis, 2021)
    Introduction: Cystic fibrosis (CF) is an autosomal genetic disease, associated with the production of excessively thick mucosa and with life-threatening chronic lung infections. The microbiota of the oral cavity can act ...
  • Citizen-science reveals changes in the oral microbiome in Spain through age and lifestyle factors
    Willis, Jesse R.; Saus Martínez, Ester; Iraola-Guzmán, Susana; Księżopolska, Ewa, 1987-; Cozzuto, Luca; Bejanaro, Luis A.; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Blanco, Andrea; Puig-Sola, Anna; Broglio, Elisabetta; Carolis, Carlo; Ponomarenko, Julia; Hecht, Jochen; Gabaldón Estevan, Juan Antonio, 1973- (Nature Research, 2022)
    The relevance of the human oral microbiome to our understanding of human health has grown in recent years as microbiome studies continue to develop. Given the links of the oral cavity with the digestive, respiratory and ...
  • Computational processing and quality control of Hi-C, capture Hi-C and capture-C data
    Hansen, Peter; Gargano, Michael; Hecht, Jochen; Ibn-Salem, Jonas; Karlebach, Guy; Roehr, Johannes T.; Robinson, Peter N. (MDPI, 2019)
    Hi-C, capture Hi-C (CHC) and Capture-C have contributed greatly to our present understanding of the three-dimensional organization of genomes in the context of transcriptional regulation by characterizing the roles of ...
  • De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction
    Ehmke, Nadja; Hecht, Jochen; Kornak, Uwe (Elsevier, 2017)
    Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. ...
  • E2F6 initiates stable epigenetic silencing of germline genes during embryonic development
    Dahlet, Thomas; Truss, Matthias; Frede, Ute; Al Adhami, Hala; Bardet, Anaïs F.; Dumas, Michael; Vallet, Judith; Chicher, Johana; Hammann, Philippe; Kottnik, Sarah; Hansen, Peter; Luz, Uschi; Alvarez, Gonzalo; Auclair, Ghislain; Hecht, Jochen; Robinson, Peter N.; Hagemeier, Christian; Weber, Michael (Nature Research, 2021)
    In mouse development, long-term silencing by CpG island DNA methylation is specifically targeted to germline genes; however, the molecular mechanisms of this specificity remain unclear. Here, we demonstrate that the ...
  • Genome-wide binding of posterior HOXA/D transcription factors reveals subgrouping and association with CTCF
    Jerković, Ivana; Ibrahim, Daniel Murad; Andrey, Guillaume; Haas, Stefan A.; Hansen, Peter; Janetzki, Catrin; González Navarrete, Irene, 1983-; Robinson, Peter N.; Hecht, Jochen; Mundlos, Stefan (Public Library of Science (PLoS), 2017)
    Homeotic genes code for key transcription factors (HOX-TFs) that pattern the animal body plan. During embryonic development, Hox genes are expressed in overlapping patterns and function in a partially redundant manner. In ...
  • Genomic adaptations to an endoparasitic lifestyle in the morphologically atypical crustacean sacculina carcini (Cirripedia: Rhizocephala)
    Martin, Sebastian; Lesny, Peter; Glenner, Henrik; Hecht, Jochen; Vilcinskas, Andreas; Bartolomaeus, Thomas; Podsiadlowski, Lars (Oxford University Press, 2022)
    The endoparasitic crustacean Sacculina carcini (Cirripedia: Rhizocephala) has a much simpler morphology than conventional filter-feeding barnacles, reflecting its parasitic lifestyle. To investigate the molecular basis of ...
  • GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution
    Hansen, Peter; Ali, Salaheddine; Blau, Hannah; Danis, Daniel; Hecht, Jochen; Kornak, Uwe; Lupiáñez, Darío G.; Mundlos, Stefan; Steinhaus, Robin; Robinson, Peter N. (BioMed Central, 2019)
    Background: Target enrichment combined with chromosome conformation capturing methodologies such as capture Hi-C (CHC) can be used to investigate spatial layouts of genomic regions with high resolution and at scalable ...
  • Oral microbiome in down syndrome and its implications on oral health
    Willis, Jesse R.; Iraola Guzman, Susana; Saus Martínez, Ester; Ksiezopolska, Ewa; Cozzuto, Luca; Bejarano, Luis A.; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Puig, Anna; Blanco, Andrea; Broglio, Elisabetta; Carolis, Carlo; Hecht, Jochen; Ponomarenko, Julia; Gabaldón Estevan, Juan Antonio, 1973- (Taylor & Francis Open Access, 2020)
    Introduction: The oral cavity harbors an abundant and diverse microbial community (i.e. the microbiome), whose composition and roles in health and disease have been the focus of intense research. Down syndrome (DS) is ...
  • Population dynamics and genetic connectivity in recent chimpanzee history
    Fontseré Alemany, Clàudia, 1992-; Kuhlwilm, Martin; Morcillo Suárez, Carlos, 1969-; Alvarez-Estape, Marina; Hecht, Jochen; Marquès i Bonet, Tomàs, 1975- (Elsevier, 2022)
    Knowledge on the population history of endangered species is critical for conservation, but whole-genome data on chimpanzees (Pan troglodytes) is geographically sparse. Here, we produced the first non-invasive geolocalized ...
  • Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus
    Hansen, Peter; Hecht, Jochen; Ibn-Salem, Jonas; Menkuec, Benjamin S.; Roskosch, Sebastian; Truss, Matthias; Robinson, Peter N. (BioMed Central, 2016)
    Background: ChIP-nexus, an extension of the ChIP-exo protocol, can be used to map the borders of protein-bound DNA sequences at nucleotide resolution, requires less input DNA and enables selective PCR duplicate removal ...
  • Seroprevalence of antibodies against SARS-CoV-2 among health care workers in a large Spanish reference hospital
    Garcia Basteiro, Alberto L.; Carolis, Carlo; Hecht, Jochen; Dobaño, Carlota (Nature Research, 2020)
    Health care workers (HCW) are a high-risk population to acquire SARS-CoV-2 infection from patients or other fellow HCW. This study aims at estimating the seroprevalence against SARS-CoV-2 in a random sample of HCW from a ...
  • The positive rhinovirus/enterovirus detection and SARS-CoV-2 persistence beyond the acute infection phase: an intra-household surveillance study
    Brotons, Pedro; Jordan, Iolanda; Bassat, Quique; Henares, Desiree; Fernandez de Sevilla, Mariona; Ajanovic, Sara; Redin, Alba; Fumadó, Victoria; Baró, Bàrbara; Claverol, Joana; Varo, Rosauro; Cuadras, Daniel; Hecht, Jochen; Barrabeig, Irene; Garcia-Garcia, Juan Jose; Launes, Cristian; Muñoz-Almagro, Carmen (MDPI, 2021)
    We aimed to assess the duration of nasopharyngeal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RNA persistence in adults self-confined at home after acute infection; and to identify the associations of ...
  • The role of pre-existing cross-reactive central memory CD4 T-cells in vaccination with previously unseen influenza strains
    Nienen, Mikalai; Stervbo, Ulrik; Mölder, Felix; Kaliszczyk, Sviatlana; Kuchenbecker, Leon; Gayova, Ludmila; Schweiger, Brunhilde; Jürchott, Karsten; Hecht, Jochen; Neumann, Avidan U.; Rahmann, Sven; Westhoff, Timm H.; Reinke, Petra; Thiel, Andreas; Babel, Nina (Frontiers, 2019)
    Influenza vaccination is a common approach to prevent seasonal and pandemic influenza. Pre-existing antibodies against close viral strains might impair antibody formation against previously unseen strains-a process called ...
  • Transcription factors orchestrate dynamic interplay between genome topology and gene regulation during cell reprogramming
    Stadhouders, Ralph; Vidal Ocabo, Enrique; Serra, François; Di Stefano, Bruno, 1984-; Le Dily, François; Quilez Oliete, Javier; Gómez, Antonio; Collombet, Samuel; Berenguer, Clara; Cuartero, Yasmina; Hecht, Jochen; Filion, Guillaume; Beato, Miguel; Martí Renom, Marc A.; Graf, T. (Thomas) (Nature Publishing Group, 2018)
    Chromosomal architecture is known to influence gene expression, yet its role in controlling cell fate remains poorly understood. Reprogramming of somatic cells into pluripotent stem cells (PSCs) by the transcription factors ...
  • Y chromosome sequence and epigenomic reconstruction across human populations
    Esteller Cucala, Paula; Palmada-Flores, Marc; Kuderna, Lukas F.K.; Fontseré Alemany, Clàudia, 1992-; Serres Armero, Aitor, 1992-; Dabad, Marc; Torralvo, María; Faella, Armida; Ferrández Peral, Luis, 1991-; Llovera Nadal, Laia; Fornas Carreño, Oscar; Julià, Eva; Ramírez, Erika; González, Irene; Hecht, Jochen; Lizano González, Esther, 1974-; Juan, David; Marquès i Bonet, Tomàs, 1975- (Nature Research, 2023)
    Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling the analysis of traditionally neglected chromosomes, such as the human Y chromosome ...