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

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells.

Hnrnpl 缺陷对发育中肌肉细胞转录模式的影响。

Littel Hannah R, Gunasekaran Mekala, Daugherty Audrey L, Wells Natalya M, Turner Johnnie, Bruels Christine C, Pacak Christina A, Draper Isabelle, Kang Peter B

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

HMG CoA还原酶(HMGCR)缺乏对骨骼肌发育的影响

Gunasekaran Mekala, Littel Hannah R, Wells Natalya M, Turner Johnnie, Campos Gloriana, Venigalla Sree, Estrella Elicia A, Ghosh Partha S, Daugherty Audrey L, Stafki Seth A, Kunkel Louis M, Foley A Reghan, Donkervoort Sandra, Bönnemann Carsten G, Toledo-Bravo de Laguna Laura, Nascimento Andres, Natera-de Benito Daniel, Draper Isabelle, Bruels Christine C, Pacak Christina A, Kang Peter B

ACSS2 involved in acetyl-CoA synthesis regulates skeletal muscle function.

ACSS2参与乙酰辅酶A的合成,调节骨骼肌功能。

Gunasekaran Mekala, Campos Gloriana, Wells Natalya M, Lambuu Khanhlinh, Draper Isabelle, Pacak Christina A, Kang Peter B

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy

青少年发病型肌病中显性终止密码子HNRNPA1变异

Turner, Johnnie; Bruels, Christine C; Daugherty, Audrey L; Estrella, Elicia A; Stafki, Seth; Syeda, Safoora B; Littel, Hannah R; Pais, Lynn; Ganesh, Vijay S; Lidov, Hart G W; Paine, Simon M L; Maddison, Paul; Harrison, Rachel E; Straub, Volker; Ghosh, Partha S; Pacak, Christina A; Kunkel, Louis M; Draper, Isabelle; Topf, Ana; Kang, Peter B

The Notch signaling pathway in skeletal muscle health and disease

Notch信号通路在骨骼肌健康和疾病中的作用

Vargas-Franco, Dorianmarie; Kalra, Raghav; Draper, Isabelle; Pacak, Christina A; Asakura, Atsushi; Kang, Peter B

Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration

Megf10 缺乏会损害骨骼肌干细胞迁移和肌肉再生。

Li, Chengcheng; Vargas-Franco, Dorianmarie; Saha, Madhurima; Davis, Rachel M; Manko, Kelsey A; Draper, Isabelle; Pacak, Christina A; Kang, Peter B

The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila

Megf10/Drpr功能获得对果蝇肌肉发育的影响

Draper, Isabelle; Saha, Madhurima; Stonebreaker, Hannah; Salomon, Robert N; Matin, Bahar; Kang, Peter B

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

通过对基因组外显子组数据进行计算机分析,鉴定出ATP2A1基因中的致病突变,该突变涉及隐蔽的异常剪接位点。

Bruels, Christine C; Li, Chengcheng; Mendoza, Tonatiuh; Khan, Jamillah; Reddy, Hemakumar M; Estrella, Elicia A; Ghosh, Partha S; Darras, Basil T; Lidov, Hart G W; Pacak, Christina A; Kunkel, Louis M; Modave, François; Draper, Isabelle; Kang, Peter B

Silencing of drpr leads to muscle and brain degeneration in adult Drosophila

drpr基因沉默会导致成年果蝇肌肉和大脑退化

Draper, Isabelle; Mahoney, Lane J; Mitsuhashi, Satomi; Pacak, Christina A; Salomon, Robert N; Kang, Peter B

Targeted inactivation of the rickets receptor in muscle compromises Drosophila viability

肌肉中佝偻病受体的靶向失活会损害果蝇的生存能力

Harwood, Benjamin N; Draper, Isabelle; Kopin, Alan S