Search Results - "Sczakiel, Henrike L"

The AP-1-BATF and -BATF3 module is essential for growth, survival and TH17/ILC3 skewing of anaplastic large cell lymphoma by Schleussner, Nikolai, Merkel, Olaf, Costanza, Mariantonia, Liang, Huan-Chang, Hummel, Franziska, Romagnani, Chiara, Durek, Pawel, Anagnostopoulos, Ioannis, Hummel, Michael, Jöhrens, Korinna, Niedobitek, Antonia, Griffin, Patrick R., Piva, Roberto, Sczakiel, Henrike L., Woessmann, Wilhelm, Damm-Welk, Christine, Hinze, Christian, Stoiber, Dagmar, Gillissen, Bernd, Turner, Suzanne D., Kaergel, Eva, von Hoff, Linda, Grau, Michael, Lenz, Georg, Dörken, Bernd, Scheidereit, Claus, Kenner, Lukas, Janz, Martin, Mathas, Stephan

“…Transcription factor AP-1 is constitutively activated and IRF4 drives growth and survival in ALK + and ALK – anaplastic large cell lymphoma (ALCL). Here we…”
Get full text

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype–genotype observations in four children by Azabdaftari, Aline, Sczakiel, Henrike L., Danyel, Magdalena, Kohlmaier, Benno, Mache, Christoph J., Stalke, Amelie, Pfister, Eva‐Doreen, Thumfart, Julia, Henning, Stephan, Knisely, A. S., Bufler, Philip

“…Neonatal sclerosing cholangitis (NSC) is associated with progressing biliary fibrosis that often requires liver transplantation in childhood. Several recent…”
Get full text

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome) by Boschann, Felix, Moreno, Daniel Acero, Mensah, Martin A, Sczakiel, Henrike L, Skipalova, Karolina, Holtgrewe, Manuel, Mundlos, Stefan, Fischer-Zirnsak, Björn

“…Bilateral laryngeal abductor paralysis is a rare entity and the second most common cause of stridor in newborns. So far, no conclusive genetic or chromosomal…”
Get full text

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases by Mensah, Martin A., Niskanen, Henri, Magalhaes, Alexandre P., Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L., Reiter, Alisa M. V., Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y., Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M., Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D., Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia-Cabau, Carla, Buschow, René, Salvatella, Xavier, Kraushar, Matthew L., Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, Hnisz, Denes

“…Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur…”
Get full text

Whole genome sequencing in families with oligodontia by Mitscherling, Janna, Sczakiel, Henrike L., Kiskemper‐Nestorjuk, Olga, Winterhalter, Sibylle, Mundlos, Stefan, Bartzela, Theodosia, Mensah, Martin A.

“…Background/Objectives Tooth agenesis (TA) is among the most common malformations in humans. Although several causative mutations have been described, the…”
Get full text

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families by Gottschalk, Annika, Sczakiel, Henrike L., Hülsemann, Wiebke, Schwartzmann, Sarina, Abad-Perez, Angela T., Grünhagen, Johannes, Ott, Claus-Eric, Spielmann, Malte, Horn, Denise, Mundlos, Stefan, Jamsheer, Aleksander, Mensah, Martin A.

“…HOXD13 is an important regulator of limb development. Pathogenic variants in HOXD13 cause synpolydactyly type 1 (SPD1). How different types and positions of…”
Get full text

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals by Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

“…FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13…”
Get full text

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP by Mah-Som, Annelise Y., Daw, Jil, Huynh, Diana, Wu, Mengcheng, Creekmore, Benjamin C., Burns, William, Skinner, Steven A., Holla, Øystein L., Smeland, Marie F., Planes, Marc, Uguen, Kevin, Redon, Sylvia, Bierhals, Tatjana, Scholz, Tasja, Denecke, Jonas, Mensah, Martin A., Sczakiel, Henrike L., Tichy, Heidelis, Verheyen, Sarah, Blatterer, Jasmin, Schreiner, Elisabeth, Thies, Jenny, Lam, Christina, Spaeth, Christine G., Pena, Loren, Ramsey, Keri, Narayanan, Vinodh, Seaver, Laurie H., Rodriguez, Diana, Afenjar, Alexandra, Burglen, Lydie, Lee, Edward B., Chou, Tsui-Fen, Weihl, Conrad C., Shinawi, Marwan S.

“…Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants…”
Get full text

Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomas by Lopez, Cristina, Schleussner, Nikolai, Bernhart, Stephan H, Kleinheinz, Kortine, Sungalee, Stephanie, Sczakiel, Henrike L, Kretzmer, Helene, Toprak, Umut H, Glaser, Selina, Wagener, Rabea, Ammerpohl, Ole, Bens, Susanne, Giefing, Maciej, Sanchez, Juan C Gonzalez, Apic, Gordana, Hubschmann, Daniel, Janz, Martin, Kreuz, Markus, Mottok, Anja, Muller, Judith M, Seufert, Julian, Hoffmann, Steve, Korbel, Jan O, Russell, Robert B, Schule, Roland, Trumper, Lorenz, Klapper, Wolfram, Radlwimmer, Bernhard, Lichter, Peter, Kuppers, Ralf, Schlesner, Matthias, Mathas, Stephan, Siebert, Reiner

“…Histone methylation-modifiers, such as EZH2 and KMT2D, are recurrently altered in B-cell lymphomas. To comprehensively describe the landscape of alterations…”
Get full text