日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants

大规模临床外显子组测序揭示了与MC1R基因变异相关的皮肤疾病的范围和严重程度

Moore, Bryn S; Luo, Jonathan Z; Stepanchick, Ann N; Mirshahi, Tooraj

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

蛋白质截短的HSD17B13变体与慢性肝病的保护作用

Abul-Husn, Noura S; Cheng, Xiping; Li, Alexander H; Xin, Yurong; Schurmann, Claudia; Stevis, Panayiotis; Liu, Yashu; Kozlitina, Julia; Stender, Stefan; Wood, G Craig; Stepanchick, Ann N; Still, Matthew D; McCarthy, Shane; O'Dushlaine, Colm; Packer, Jonathan S; Balasubramanian, Suganthi; Gosalia, Nehal; Esopi, David; Kim, Sun Y; Mukherjee, Semanti; Lopez, Alexander E; Fuller, Erin D; Penn, John; Chu, Xin; Luo, Jonathan Z; Mirshahi, Uyenlinh L; Carey, David J; Still, Christopher D; Feldman, Michael D; Small, Aeron; Damrauer, Scott M; Rader, Daniel J; Zambrowicz, Brian; Olson, William; Murphy, Andrew J; Borecki, Ingrid B; Shuldiner, Alan R; Reid, Jeffrey G; Overton, John D; Yancopoulos, George D; Hobbs, Helen H; Cohen, Jonathan C; Gottesman, Omri; Teslovich, Tanya M; Baras, Aris; Mirshahi, Tooraj; Gromada, Jesper; Dewey, Frederick E

Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants

携带黑皮质素4受体变异体的胃旁路手术患者的长期体重减轻

Moore, Bryn S; Mirshahi, Uyenlinh L; Yost, Evan A; Stepanchick, Ann N; Bedrin, Michael D; Styer, Amanda M; Jackson, Kathryn K; Still, Christopher D; Breitwieser, Gerda E; Gerhard, Glenn S; Carey, David J; Mirshahi, Tooraj

Calcium-sensing receptor biosynthesis includes a cotranslational conformational checkpoint and endoplasmic reticulum retention.

钙敏感受体的生物合成包括共翻译构象检查点和内质网滞留

Cavanaugh Alice, McKenna Jennifer, Stepanchick Ann, Breitwieser Gerda E