Human Molecular Genetics

Transcriptional reprogramming in SMA mouse hearts reveals signatures of early heart failure and dysregulated calcium signaling.

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts.

一项针对仅患有镰状细胞病的队列中新型胎儿血红蛋白相关基因变异的重复研究

Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways.

与肥胖相关的 MRAP2 变异会损害多种 MC4R 介导的信号通路

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.

缬氨酸和异亮氨酸氧化的代谢重排可提高丙酰辅酶A代谢紊乱斑马鱼模型的存活率

Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1.

构建具有 STGD1 病理特征的复合杂合子 ABCA4 大鼠模型

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome.

人类 TSC2 突变细胞在早期神经发育中表现出异常，并伴有 DNA 甲基化组的变化

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome.

脱氧核苷补充剂可改善斑马鱼 RRM2B mtDNA 耗竭综合征模型中的疾病相关表型