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Hace 2 días · PGM1-linked congenital disorder of glycosylation (PGM1-CDG) is an autosomal recessive disease characterized by several phenotypes, some of which are life-threatening. Research focusing on the disease-related variants of the α-D-phosphoglucomutase 1 (PGM1) protein has shown that several are insoluble in vitro and expressed at low levels in patient fibroblasts. Due to these observations, we ...
Hace 5 días · LncRNA PCED1B-AS1 is abnormally expressed in multiple cancers and has been confirmed as an oncogene. Our study aimed to investigate the regulatory mechanism of lncRNA PCED1B-AS1 in gastric cancer. Jia Cao, Yicheng Yang, Bensong Duan, Haibin Zhang, Qinwei Xu, Junyi Han and Bing Lu. Biology Direct 2024 19 :34.
Hace 2 días · Rare recessive mutations in GBE1 cause adult polyglucosan body disease, which often affects cognition including executive function 62,63,64, and in a recent GWAS, GBE1 was implicated in musical ...
Hace 1 día · After GO analysis, the DEGs were mainly involved in three branches: biological processes, cellular components and molecular function. Among them, biological processes included metabolic processes and cellular processes; cellular components included cells, cell parts, membranes, membrane’s part and organelles; and molecular functions contained binding and catalytic activity ( Figure 5 ).
Hace 1 día · International Scientific and Practical Conference “From Modernization to Rapid Development: Ensuring Competitiveness and Scientific Leadership of the Agro-Industrial Complex” (IDSISA 2024) Ekaterinburg city, Russian Federation, March 14-15, 2024 O. Loretts, I. Donnik, Z. Abbas Rao, A. Ruchkin and V. Kukhar (Eds.)
Hace 5 días · It is demonstrated that dual inhibition of p53-mediated cell death and distinct activation of the DNA damage repair system upon DNA damage by cytosine base editor or prime editor additively enhanced editing efficiency in hPSCs. Precise genome editing is crucial for establishing isogenic human disease models and ex vivo stem cell therapy from the patient-derived hPSCs. Unlike Cas9-mediated ...
Hace 1 día · The FASEB Journal publishes multidisciplinary basic and translational research covering biology and biomedical sciences at every level of organization. Abstract HPSE2, the gene-encoding heparanase 2 (Hpa2), is mutated in urofacial syndrome (UFS), a rare autosomal recessive congenital disease attributed to peripheral neuropathy.
