Lv1
48 积分 2025-08-31 加入
Lactate-driven ATP6V1B2 lactylation triggers asthmatic inflammation by linking lysosomal dysfunction to mitochondrial ROS-dependent pyroptosis
15天前
已完结
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay
15天前
已完结
Duplicated zinc finger protein genes on the proximal short arm of the human X chromosome: isolation, characterization and X-inactivation studies
4个月前
已完结
Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay
4个月前
已完结
Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus
4个月前
已完结
Selective loss of Scn2a in ventral tegmental area dopaminergic neurons leads to dopamine system hypofunction and autistic-like behaviors
5个月前
已完结
CFAP74 Variants Could Cause Male Infertility With the Asthenoteratozoospermia Phenotype
5个月前
已完结
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
6个月前
已完结
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
6个月前
已完结
Clathrin-associated carriers enable recycling through a kiss-and-run mechanism
6个月前
已完结