Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06889 (Mol)
 630,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several genomic regions are recurrently over- or underrepresented in testicular germ cell tumours (TGCTs), but only a fraction of their genes change their expression accordingly. Two publications to date have studied DNA copy numbers and associated gene expression changes on a genome-wide level to identify key players in TGCT tumorigenesis. Here, we compare lists of significant genes in these studies, and show that 17 genes are common to both. These include concomitant gain and over-expression of JUB, NRXN3, and TPD52, and loss and under-expression of C11orf70 and CADM1, in addition to 12 overexpressed genes located on the chromosome arm 12p. We performed immunohistochemical analysis of TPD52 on a tissue microarray, which showed complete absence of TPD52 protein in normal germ cells and most intratubular germ cell neoplasias. TPD52 was expressed in two-thirds of seminomas and embryonal carcinomas, and at intermediate frequencies in the more differentiated non-seminomas.
Mol Cell Endocrinol 2009 Jul 10
PMID:TPD52, a candidate gene from genomic studies, is overexpressed in testicular germ cell tumours. 1904 65

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous hereditary disease from a class of ciliopathies. In spite of the recent progress, the genetic basis of PCD in one-third of patients remains unknown. In search for new genes and/or mutations, whole-exome sequencing was performed in 120 unrelated Polish patients with PCD, in whom no genetic cause of PCD was earlier identified. Among a number of pathogenic variants in PCD genes, mutations in CFAP300 (alias C11orf70) were detected. Extended screening in the whole Polish PCD cohort revealed the relatively high frequency (3.6%) of otherwise rare c.[198_200 del_insCC] variant, indicating that it should be included in population-specific genetic tests for PCD in Slavic populations. Immunofluorescence analysis of the respiratory epithelial cells from patients with CFAP300 mutations revealed the absence or aberrant localization of outer and inner dynein arm markers, consistent with transmission electron microscope images indicating the lack of both dynein arms. Interestingly, the disparate localization of DNAH5 and DNALI1 proteins in patients with CFAP300 mutations suggested differential mechanisms for the trafficking of preassembled outer and inner dynein arms to the axoneme. The profile of CFAP300 expression during ciliogenesis in suspension culture was consistent with its role in cilia assembly. Gene silencing experiments, performed in a model organism, Schmidtea mediterranea (flatworm), pointed to the conserved role of CFAP300 in ciliary function.
Am J Respir Cell Mol Biol 2019 10
PMID:CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking. 3095 71