Evolutionary Aspects of TRPMLs and TPCs

por Jaślan, Dawid, Böck, Julia, Krogsaeter, Einar, Grimm, Christian
Publicado 2020

Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue!

por Prat Castro, Sandra, Kudrina, Veronika, Jaślan, Dawid, Böck, Julia, Scotto Rosato, Anna, Grimm, Christian
Publicado 2022

Sterile Alpha Motif Containing 7 (Samd7) Is a Novel Crx-Regulated Transcriptional Repressor in the Retina

por Hlawatsch, Julia, Karlstetter, Marcus, Aslanidis, Alexander, Lückoff, Anika, Walczak, Yana, Plank, Michael, Böck, Julia, Langmann, Thomas
Publicado 2013

Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect

por Böck, Julia, Krogsaeter, Einar, Passon, Marcel, Chao, Yu-Kai, Sharma, Sapna, Grallert, Harald, Peters, Annette, Grimm, Christian
Publicado 2021

Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers

por Böck, Julia, Maurus, Katja, Gerhard-Hartmann, Elena, Brändlein, Stephanie, Kurz, Katrin S., Ott, German, Anagnostopoulos, Ioannis, Rosenwald, Andreas, Zamò, Alberto
Publicado 2023

Allele-specific methylation of imprinted genes in fetal cord blood is influenced by cis-acting genetic variants and parental factors

por Potabattula, Ramya, Dittrich, Marcus, Böck, Julia, Haertle, Larissa, Müller, Tobias, Hahn, Thomas, Schorsch, Martin, Hajj, Nady El, Haaf, Thomas
Publicado 2018

Hypermethylation of the non-imprinted maternal MEG3 and paternal MEST alleles is highly variable among normal individuals

por Haertle, Larissa, Maierhofer, Anna, Böck, Julia, Lehnen, Harald, Böttcher, Yvonne, Blüher, Matthias, Schorsch, Martin, Potabattula, Ramya, El Hajj, Nady, Appenzeller, Silke, Haaf, Thomas
Publicado 2017

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐r...

por Böck, Julia, Appenzeller, Silke, Haertle, Larissa, Schneider, Tamara, Gehrig, Andrea, Schröder, Jörg, Rost, Simone, Wolf, Beat, Bartram, Claus R., Sutter, Christian, Haaf, Thomas
Publicado 2018

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

por Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas
Publicado 2019

Epigenetic dysregulation in the developing Down syndrome cortex

por El Hajj, Nady, Dittrich, Marcus, Böck, Julia, Kraus, Theo F. J., Nanda, Indrajit, Müller, Tobias, Seidmann, Larissa, Tralau, Tim, Galetzka, Danuta, Schneider, Eberhard, Haaf, Thomas
Publicado 2016

Cell Type and Species-specific Patterns in Neuronal and Non-neuronal Methylomes of Human and Chimpanzee Cortices

por Böck, Julia, Remmele, Christian W, Dittrich, Marcus, Müller, Tobias, Kondova, Ivanela, Persengiev, Stephan, Bontrop, Ronald E, Ade, Carsten P, Kraus, Theo F J, Giese, Armin, El Hajj, Nady, Schneider, Eberhard, Haaf, Thomas
Publicado 2018

Hypermethylation of RAD9A intron 2 in childhood cancer patients, leukemia and tumor cell lines suggest a role for oncogenic transformation

por Galetzka, Danuta, Böck, Julia, Wagner, Lukas, Dittrich, Marcus, Sinizyn, Olesja, Ludwig, Marco, Rossmann, Heidi, Spix, Claudia, Radsak, Markus, Scholz-Kreisel, Peter, Mirsch, Johanna, Linke, Matthias, Brenner, Walburgis, Marron, Manuela, Poplawski, Alicia, Haaf, Thomas, Schmidberger, Heinz, Prawitt, Dirk
Publicado 2022

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease

por Scotto Rosato, Anna, Krogsaeter, Einar K, Jaślan, Dawid, Abrahamian, Carla, Montefusco, Sandro, Soldati, Chiara, Spix, Barbara, Pizzo, Maria Teresa, Grieco, Giuseppina, Böck, Julia, Wyatt, Amanda, Wünkhaus, Daniela, Passon, Marcel, Stieglitz, Marc, Keller, Marco, Hermey, Guido, Markmann, Sandra, Gruber‐Schoffnegger, Doris, Cotman, Susan, Johannes, Ludger, Crusius, Dennis, Boehm, Ulrich, Wahl‐Schott, Christian, Biel, Martin, Bracher, Franz, De Leonibus, Elvira, Polishchuk, Elena, Medina, Diego L, Paquet, Dominik, Grimm, Christian
Publicado 2022