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

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

与 CMT1A 或 HNPP 相关的非复发性基因组重排机制:罕见 CNV 是遗传缺失的原因

Zhang, Feng; Seeman, Pavel; Liu, Pengfei; Weterman, Marian A J; Gonzaga-Jauregui, Claudia; Towne, Charles F; Batish, Sat Dev; De Vriendt, Els; De Jonghe, Peter; Rautenstrauss, Bernd; Krause, Klaus-Henning; Khajavi, Mehrdad; Posadka, Jan; Vandenberghe, Antoon; Palau, Francesc; Van Maldergem, Lionel; Baas, Frank; Timmerman, Vincent; Lupski, James R

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.

口服姜黄素可减轻 Trembler-J 小鼠的临床和神经病理表型:一种治疗遗传性神经病的潜在疗法

Khajavi Mehrdad, Shiga Kensuke, Wiszniewski Wojciech, He Feng, Shaw Chad A, Yan Jiong, Wensel Theodore G, Snipes G Jackson, Lupski James R

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

染色体重排热点可以通过群体遗传变异来识别,并且与等位基因重组热点重合。

Lindsay, Sarah J; Khajavi, Mehrdad; Lupski, James R; Hurles, Matthew E

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

姜黄素治疗可消除与引起神经病变的髓鞘蛋白零截短突变体相关的内质网滞留和聚集诱导的细胞凋亡

Khajavi Mehrdad, Inoue Ken, Wiszniewski Wojciech, Ohyama Tomoko, Snipes G Jackson, Lupski James R