Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Frank J Kaiser"'
Autor:
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intel
Externí odkaz:
https://doaj.org/article/96bb68fe9add4f0698345b5dfbe47645
Autor:
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-patho
Externí odkaz:
https://doaj.org/article/6570a285e9844430857f2e885f205ade
Autor:
Jessica Zuin, Valentina Casa, Jelena Pozojevic, Petros Kolovos, Mirjam C G N van den Hout, Wilfred F J van Ijcken, Ilaria Parenti, Diana Braunholz, Yorann Baron, Erwan Watrin, Frank J Kaiser, Kerstin S Wendt
Publikováno v:
PLoS Genetics, Vol 13, Iss 12, p e1007137 (2017)
Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome (CdL
Externí odkaz:
https://doaj.org/article/9a8bee23bdc14e87a2cfaf32a9732803
Autor:
Celine Chiu, Alma Küchler, Christel Depienne, Corinna Preuße, Adela Della Marina, Andre Reis, Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel, Andreas Roos
Publikováno v:
Skeletal Muscle, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Background TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental
Externí odkaz:
https://doaj.org/article/2e484f64d83a4c958c3c49c8b122eed4
Autor:
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano
Publikováno v:
JCRPE, Vol 16, Iss 2, Pp 211-217 (2024)
The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Hormone levels, clinical scores, anthr
Externí odkaz:
https://doaj.org/article/7bd73cdcf3334e3ab419baea7aaf29f1
Autor:
Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100337- (2024)
Externí odkaz:
https://doaj.org/article/517d9e08a39d40259779aac3fa7232af
Autor:
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological
Externí odkaz:
https://doaj.org/article/dae4649b5a064957935d72b149d0ec67
Autor:
Clint L Miller, Ulrike Haas, Roxanne Diaz, Nicholas J Leeper, Ramendra K Kundu, Bhagat Patlolla, Themistocles L Assimes, Frank J Kaiser, Ljubica Perisic, Ulf Hedin, Lars Maegdefessel, Heribert Schunkert, Jeanette Erdmann, Thomas Quertermous, Georg Sczakiel
Publikováno v:
PLoS Genetics, Vol 10, Iss 3, p e1004263 (2014)
Genome-wide association studies (GWAS) have identified chromosomal loci that affect risk of coronary heart disease (CHD) independent of classical risk factors. One such association signal has been identified at 6q23.2 in both Caucasians and East Asia
Externí odkaz:
https://doaj.org/article/110ec0e471a84977a6042ab7941be3e3
Autor:
Ioannis Gavvovidis, Isabell Rost, Marc Trimborn, Frank J Kaiser, Josephine Purps, Constanze Wiek, Helmut Hanenberg, Heidemarie Neitzel, Detlev Schindler
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e40387 (2012)
Biallelic mutations in MCPH1 cause primary microcephaly (MCPH) with the cellular phenotype of defective chromosome condensation. MCPH1 encodes a multifunctional protein that notably is involved in brain development, regulation of chromosome condensat
Externí odkaz:
https://doaj.org/article/2272c1b9132c4f0c8323584a0b883d3a
Autor:
Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a broad spectrum of
Externí odkaz:
https://doaj.org/article/5afe8591e55b4aadbf8bc23deba02c66