Deciphering targeting rules of splicing modulator compounds: case of TG003

por Sakuma, Maki, Iida, Kei, Hagiwara, Masatoshi
Publicado 2015

Hereditary Hemorrhagic Telangiectasia Presenting with Asymptomatic Liver Lesions and a History of Early-onset Myocardial Infarction and Multiple Intracranial Aneurysms

por Sakuma, Maki, Inagaki, Takeshi, Arakawa, Reiko, Kato, Norihiro, Okafuji, Takashi
Publicado 2022

P707: MUTATIONS IN THE COHESIN GENE STAG2 ARE ASSOCIATED WITH REDUCED INFLAMMATORY GENEEXPRESSION AND AN INCREASE IN HEMATOPOIETIC STEM CELL POPULATIONS IN MYELODYSPLASTICSYNDROME...

por Ashish Bhattacharya, Shubhra, Sakuma, Maki, Walter, Wencke, Haferlach, Torsten, Malinverni, Roberto, Buschbeck, Marcus
Publicado 2023

S161: UBA1 NON-M41 VARIANTS ARE MORE AGGRESSIVE THAN UBA1 M41 VARIANTS IN THEIR HEMATOLOGICAL MANIFESTATIONS.

por Sakuma, Maki, Baer, Constance, Meggendorfer, Manja, Haferlach, Claudia, Kern, Wolfgang, Haferlach, Torsten, Walter, Wencke
Publicado 2023

P690: IDENTIFICATION OF CLINICALLY RELEVANT VARIANT-LEVEL SEX-BIAS IN SF3B1 K700/K666 AND IDH2 R140/R172

por Sakuma, Maki, Baer, Constance, Meggendorfer, Manja, Haferlach, Claudia, Kern, Wolfgang, Haferlach, Torsten, Walter, Wencke
Publicado 2023

Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies

por Sakuma, Maki, Blombery, Piers, Meggendorfer, Manja, Haferlach, Claudia, Lindauer, Markus, Martens, Uwe M., Kern, Wolfgang, Haferlach, Torsten, Walter, Wencke
Publicado 2023

RBM24 promotes U1 snRNP recognition of the mutated 5′ splice site in the IKBKAP gene of familial dysautonomia

por Ohe, Kenji, Yoshida, Mayumi, Nakano-Kobayashi, Akiko, Hosokawa, Motoyasu, Sako, Yukiya, Sakuma, Maki, Okuno, Yukiko, Usui, Tomomi, Ninomiya, Kensuke, Nojima, Takayuki, Kataoka, Naoyuki, Hagiwara, Masatoshi
Publicado 2017