Rsph4a gene
Webالصفحة الرئيسية; الأحداث الجارية; أحدث التغييرات; أحدث التغييرات الأساسية WebJan 18, 2024 · The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. …
Rsph4a gene
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Webrsph4a. Predicted to be involved in axoneme assembly and cilium movement. Predicted to localize to axoneme. Is expressed in midbrain; otic placode; pronephric duct; and spinal … WebThis gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas …
WebRSPH4A Antibodies Antibodies that detect RSPH4A can be used in several scientific applications, including Immunohistochemistry, Immunocytochemistry, Western Blot and … WebPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of …
WebRSPH4A is comprised of 6 exons and, to date, just three nonsense variants (two in exon 1 and one in exon 3) have been described in 5 unrelated families (Castleman et al. 2009). All … WebCOSMIC gene RSPH4A_ENST00000368580 (COSG368580) Genomic coordinates 6:116616624..116632441 (positive strand) Synonyms RSPH4A, CILD11, FLJ37974, …
WebSequence variants and/or copy number variants (deletions/duplications) within the RSPH4A gene will be detected with >99% sensitivity. Variants classified as unknown significance …
WebKott et al. (2013) identified pathogenic mutations in the RSPH4A gene (see, e.g., 612647.0004-612647.0005) in 7 (14%) of 48 families with a specific CILD phenotype … trillings hoursWebIdentifying the differentially expressed genes (DEGs) profile, the cilia-related genes expression levels and the morphological characteristics of ciliated cells terry ryan snohomishWebMar 20, 2012 · Mutations in RSPH4A were identified in three of these 24 patients, suggesting that mutations in this gene may be involved in over 12% of PCD families with … trillings hardwareWebDescription: Homo sapiens radial spoke head component 4A (RSPH4A), transcript variant 1, mRNA. (from RefSeq NM_001010892) RefSeq Summary (NM_001010892): This gene … terry ryan jr hockeyWeb丁香通为您找到53条spoke厂家的工商注册年份、员工人数、年营业额、信用记录、主营产品、相关spoke产品的供求信息、交易记录等企业详情。丁香通为买家提供用户服务,诚信保障等服务,批发采购spoke,上丁香通。 terry ryan state coronerWebJan 18, 2024 · The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. … terry ryan ice hockey born 1977WebGenetic pulmonary diseases are respiratory conditions commonly passed down in the genes of generational relations. Some diseases are frequently found in the population and can be managed through drug and lifestyle therapies. An excellent example of … trilling sheboygan