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

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

PLCG1基因的杂合变异会影响听力、视力、心脏和免疫功能。

Ma, Mengqi; Zheng, Yiming; Deng, Mingxi; Lu, Shenzhao; Pan, Xueyang; Luo, Xi; Etoundi, Michelle; Li-Kroeger, David; Worley, Kim C; Burrage, Lindsay C; Blieden, Lauren S; Allworth, Aimee; Chen, Wei-Liang; Merla, Giuseppe; Mandriani, Barbara; Otten, Catherine E; Blanc, Pierre; Rosenfeld, Jill A; Dutta, Debdeep; Yamamoto, Shinya; Wangler, Michael F; Glass, Ian A; Chen, Jingheng; Blue, Elizabeth; Prontera, Paolo; Rosain, Jeremie; Marlin, Sandrine; Lalani, Seema R; Bellen, Hugo J

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

内质网蛋白Tmem208的缺失会影响细胞极性、发育和存活率。

Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V; Marcogliese, Paul C; Steger, Benjamin; Morimoto, Marie; Frost, F Graeme; Macnamara, Ellen; Wangler, Michael F; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C; Bellen, Hugo J

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关

Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J

Sphingolipids in neurodegenerative diseases

神经退行性疾病中的鞘脂

Pan, Xueyang; Dutta, Debdeep; Lu, Shenzhao; Bellen, Hugo J

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

TOMM70(线粒体输入转位酶的受体)的新生突变会导致神经功能障碍。

Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J