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「Hum Mol Genet[Journal]」の検索結果

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Cerebellar contribution to the cognitive alterations in SCA1: evidence from mouse models.

Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response.

Sigma-1 receptor is a key genetic modulator in amyotrophic lateral sclerosis.

Treatment with JQ1, a BET bromodomain inhibitor, is selectively detrimental to R6/2 Huntington's disease mice.

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution.

A Transcriptome-Wide Association Study implicates specific pre- and post-synaptic abnormalities in Schizophrenia.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.

Splicing factor DHX15 affects tp53 and mdm2 expression via alternate splicing and promoter usage.

Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.

Methylation changes in the peripheral blood of filipinos with type 2 diabetes suggest spurious transcription initiation at TXNIP.

A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation.

Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy-lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.

Genome-wide heritability analysis of severe malaria resistance reveals evidence of polygenic inheritance.

Within family Mendelian randomization studies.

The consequences of increased 4E-BP1 in polycystic kidney disease.

Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo.

Curcumin dietary supplementation ameliorates disease phenotype in an animal model of Huntington's disease.

BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.

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