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

Authors: Maki Sakuma, Constance Baer, Manja Meggendorfer, Claudia Haferlach, Wolfgang Kern, Torsten Haferlach, Wencke Walter

Source: HemaSphere, Vol 7, p e3306813 (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000967556.33068.13; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/b4697b70dd564aefb37a98080758afe1

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

Authors: Maki Sakuma, Constance Baer, Manja Meggendorfer, Claudia Haferlach, Wolfgang Kern, Torsten Haferlach, Wencke Walter

Source: HemaSphere, Vol 7, p e13393b9 (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000969664.13393.b9; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/43f67482789742e29efb38528c7cf6f7

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

Authors: Shubhra Ashish Bhattacharya, Maki Sakuma, Wencke Walter, Torsten Haferlach, Roberto Malinverni, Marcus Buschbeck

Source: HemaSphere, Vol 7, p e67131fc (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000969732.67131.fc; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/8c0f9046f6d5425889191e619e9eefa6

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

Authors: Maki Sakuma, Takeshi Inagaki, Reiko Arakawa, Norihiro Kato, Takashi Okafuji

Source: Internal Medicine; 2023, Vol. 62 Issue 4, p553-557, 5p

Deciphering targeting rules of splicing modulator compounds: case of TG003.

Authors: Maki Sakuma^1,2, Kei Iida² iida.kei.3r@kyoto-u.ac.jp, Masatoshi Hagiwara^1,2 hagiwara.masatoshi.8c@kyoto-u.ac.jp

Source: BMC Molecular Biology. 9/24/2015, Vol. 16 Issue 1, p1-13. 13p. 3 Diagrams, 4 Graphs.

Subject Terms: *RNA splicing, *TARGETED drug delivery, *GENETIC transcription, *DUCHENNE muscular dystrophy, *RNA sequencing, *MUSCLE cells

Abnormalities in plasma lipoprotein in familial partial lecithin: Cholesterol acyltransferase deficiency

Authors: Tatsuhiko, Kodama, Yasuo, Akanuma, Mitsuyo, Okazaki, Hiroyuki, Aburatani, Hiroshige, Itakura, Keiichi, Takahashi, Maki, Sakuma, Fumimaro, Takaku, Ichiro, Hara

Source: In Biochimica et Biophysica Acta (BBA)/Lipids and Lipid Metabolism 1983 752(3):407-415