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Journal Human molecular genetics Issue Volume 32:Issue 1(2023)

2. An enhancer variant associated with breast cancer susceptibility in Black women regulates TNFSF10 expression and antitumor immunity in triple-negative breast cancer. Issue 1 (5th August 2022)

Authors:
Han, Yoo Jane; Zhang, Jing; Hardeman, Ashley; Liu, Margaret; Karginova, Olga; Romero, Roger; Khramtsova, Galina F; Zheng, Yonglan; Huo, Dezheng; Olopade, Olufunmilayo I
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 1(2023)
Page Start:
139
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550. Issue 1 (31st July 2022)

Authors:
Lee, Yejin; Kim, Hyeongju; Barker, Douglas; Vijayvargia, Ravi; Atwal, Ranjit Singh; Specht, Harrison; Keshishian, Hasmik; Carr, Steven A; Lee, Ramee; Kwak, Seung; Hyun, Kyung-gi; Loupe, Jacob; MacDonald, Marcy E; Song, Ji-Joon; Seong, Ihn Sik
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 1(2023)
Page Start:
30
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Opposing effects of genetic variation in MTCH2 for obesity versus heart failure. Issue 1 (29th July 2022)

Authors:
Fischer, Julie A; Monroe, Tanner O; Pesce, Lorenzo L; Sawicki, Konrad T; Quattrocelli, Mattia; Bauer, Rosemary; Kearns, Samuel D; Wolf, Matthew J; Puckelwartz, Megan J; McNally, Elizabeth M
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 1(2023)
Page Start:
15
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. Issue 1 (1st August 2022)

Authors:
Fazal, Sarah; Danzi, Matt C; van Kuilenburg, André B P; Reich, Selina; Traschütz, Andreas; Bender, Benjamin; Leen, René; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R; van Karnebeek, Clara D M; Ferreira, Carlos R; D'Sousa, Precilla; Network, Undiagnosed Diseases; Tekin, Mustafa; Züch...
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 1(2023)
Page Start:
46
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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