Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants

Por Mlody, Barbara, Wruck, Wasco, Martins, Soraia, Sperling, Karl, Adjaye, James
Publicado no Sci Rep (2017)

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin

Por Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Publicado em 2008

A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin

Por Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Publicado em 2008

Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract

Por Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Publicado em 2009

The LARGE Principle of Cellular Reprogramming: Lost, Acquired and Retained Gene Expression in Foreskin and Amniotic Fluid-Derived Human iPS Cells

Por Wolfrum, Katharina, Wang, Ying, Prigione, Alessandro, Sperling, Karl, Lehrach, Hans, Adjaye, James
Publicado em 2010

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

Por Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard
Publicado em 2002

Creation of monosomic derivatives of human cultured cell lines

Por Clarke, Duncan J., Giménez-Abián, Juan F., Tönnies, Holger, Neitzel, Heidemarie, Sperling, Karl, Downes, C. Stephen, Johnson, Robert T.
Publicado em 1998

Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition

Por Neitzel, Heidemarie, Neumann, Luitgard M., Schindler, Detlev, Wirges, Andreas, Tönnies, Holger, Trimborn, Marc, Krebsova, Alice, Richter, Reyk, Sperling, Karl
Publicado em 2002

A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22

Por Vanita, Singh, Jai Rup, Sarhadi, Virinder K., Singh, Daljit, Reis, André, Rueschendorf, Franz, Becker-Follmann, Johannes, Jung, Martin, Sperling, Karl
Publicado em 2001

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder deli...

Por Polityko, Anna, Khurs, Olga, Rumyantseva, Natalia, Naumchik, Irina, Kosyakova, Nadezda, Tönnies, Holger, Sperling, Karl, Neitzel, Heidemarie, Weise, Anja, Liehr, Thomas
Publicado em 2010

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome

Por Habib, Raneem, Neitzel, Heidemarie, Ernst, Aurelie, Wong, John K. L., Goryluk-Kozakiewicz, Bozenna, Gerlach, Antje, Demuth, Ilja, Sperling, Karl, Chrzanowska, Krystyna
Publicado no Mol Cytogenet (2018)

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA

Por Demuth, Ilja, Krebs, Simon K., Dutrannoy, Véronique, Linke, Christian, Krobitsch, Sylvia, Varon, Raymonda, Lang, Christine, Raab, Andreas, Sperling, Karl, Digweed, Martin
Publicado no PLoS One (2018)

Nibrin functions in Ig class-switch recombination

Por Kracker, Sven, Bergmann, Yvonne, Demuth, Ilja, Frappart, Pierre-Olivier, Hildebrand, Gabriele, Christine, Rainer, Wang, Zhao-Qi, Sperling, Karl, Digweed, Martin, Radbruch, Andreas
Publicado em 2005

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Por Habib, Raneem, Kim, Ryong, Neitzel, Heidemarie, Demuth, Ilja, Chrzanowska, Krystyna, Seemanova, Eva, Faber, Renaldo, Digweed, Martin, Voss, Reinhard, Jäger, Kathrin, Sperling, Karl, Walter, Michael
Publicado no Aging (Albany NY) (2020)

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application

Por Salewsky, Bastian, Hildebrand, Gabriele, Rothe, Susanne, Parplys, Ann Christin, Radszewski, Janina, Kieslich, Moritz, Wessendorf, Petra, Krenzlin, Harald, Borgmann, Kerstin, Nussenzweig, André, Sperling, Karl, Digweed, Martin
Publicado no Mol Ther (2016)

A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice

Por Melchers, Anna, Stöckl, Lars, Radszewski, Janina, Anders, Marco, Krenzlin, Harald, Kalischke, Candy, Scholz, Regina, Jordan, Andreas, Nebrich, Grit, Klose, Joachim, Sperling, Karl, Digweed, Martin, Demuth, Ilja
Publicado em 2009

Correction: A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice

Por Melchers, Anna, Stöckl, Lars, Radszewski, Janina, Anders, Marco, Krenzlin, Harald, Kalischke, Candy, Scholz, Regina, Jordan, Andreas, Nebrich, Grit, Klose, Joachim, Sperling, Karl, Digweed, Martin, Demuth, Ilja
Publicado em 2009

The DNA-Based Structure of Human Chromosome 5 in Interphase

Por Lemke, Johannes, Claussen, Jan, Michel, Susanne, Chudoba, Ilse, Mühlig, Peter, Westermann, Martin, Sperling, Karl, Rubtsov, Nikolai, Grummt, Ulrich-Walter, Ullmann, Peter, Kromeyer-Hauschild, Katrin, Liehr, Thomas, Claussen, Uwe
Publicado em 2002

Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation

Por Trimborn, Marc, Bell, Sandra M., Felix, Clive, Rashid, Yasmin, Jafri, Hussain, Griffiths, Paul D., Neumann, Luitgard M., Krebs, Alice, Reis, André, Sperling, Karl, Neitzel, Heidemarie, Jackson, Andrew P.
Publicado em 2004

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Por Arélin, Maria, Schulze, Bernt, Müller-Myhsok, Bertram, Horn, Denise, Diers, Alexander, Uhlenberg, Birgit, Nürnberg, Peter, Nürnberg, Gudrun, Becker, Christian, Mundlos, Stefan, Lindner, Tom H, Sperling, Karl, Hoffmann, Katrin
Publicado em 2013