Web12 hours ago · 因为敲除这个基因会导致软骨细胞成熟缓慢。原理可能是这个基因表达的物质可以降解原癌基因jun,而原癌基因jun会抑制软骨细胞的成熟。 最重要的是,在做这个研 … WebSep 12, 2016 · 300828 - PATCHED DOMAIN-CONTAINING PROTEIN 1; PTCHD1 - PTCHD1 In 5 male members of 3 unrelated families of European origin with X-linked autism-4 (AUTSX4; 300830), Chaudhry et al. (2015) identified 3 different truncating mutations in the PTCHD1 gene (300828.0001-300828.0003).Functional studies of the variants and studies …
Entry - *300828 - PATCHED DOMAIN-CONTAINING PROTEIN 1; PTCHD1 …
WebJan 15, 2024 · Background: The Xp22.11 locus that encompasses PTCHD1, DDX53, and the long noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum disorder (ASD), but the functional consequences of these genetic risk factors for ASD are unknown. Methods: To evaluate the functional consequences of PTCHD1 locus … Web使用vtho,研究人员探索了trn特异性、疾病相关基因补丁含结构域1(ptchd1)和受体酪氨酸蛋白激酶(erbb4)在人类丘脑发育过程中的功能。ptchd1或erbb4的扰动损害了vtho的神 … medford massachusetts fire department
PTCHD1-AS Gene - GeneCards PTCHD1-AS RNA Gene
WebDec 8, 2024 · Title: Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Systematic screen of PTCHD1 and its 5' flanking regions … http://www.cas.ac.cn/kj/202408/t20240825_4845520.shtml WebDescription. PTCHD1 is a membrane protein with a patched domain that is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in the PTCHD1 gene, which is located on the X chromosome, are associated with intellectual disability and autism spectrum disorder. Attributes. QA State. Curated. Type. Protein. medford massachusetts zip code