期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (20)
Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitat......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (22)
Mutations in genes encoding nuclear pore proteins (NUPs) lead to the development of steroid-resistant nephrotic syndrome and focal segmental glomerulo......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (20)
MicroRNA (miRNA) are small non-coding RNA involved in post-transcriptional gene regulation. Given their known involvement in early neurodevelopment pr......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (7)
Loss of heterozygosity (LOH) is a genetic alteration that results from the loss of one allele at a heterozygous locus. In particular, copy neutral LOH......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (8)
X-inactive specific transcript (XIST) is a 17-19 kb long non-coding ribonucleic acid (RNA) critical for X-chromosome inactivation. Tandem repeats with......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (8)
Infantile Krabbe disease is a rapidly progressive and fatal disorder of myelin, caused by inherited deficiency of the lysosomal enzyme beta-galactocer......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (10)
The abnormal expansion of GGGGCC hexanucleotide repeats within the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS......
期刊： HUMAN MOLECULAR GENETICS, 2023; ()
Osteoarthritis is a prevalent, complex disease of the joints, and affects multiple intra-articular tissues. Here, we have examined genome-wide DNA met......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (10)
Membrane fusion is mediated by soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins. During neurotransmitter exocyto......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (11)
Orofacial cleft (OC) is a common congenital anomaly in humans, which has lifelong implications for affected individuals. This disorder can be classifi......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (16)
Complex I (CI) deficiency in mitochondrial oxidative phosphorylation (OXPHOS) is the most common cause of mitochondrial diseases, and limited evidence......
期刊： HUMAN MOLECULAR GENETICS, 2023; 32 (24)
This year is a milestone anniversary of the discovery that Huntington's disease is caused by the presence of expanded polyglutamine repeats in the hun......
