WDR16 antibody
- Known as:
- WDR16 (anti-)
- Catalog number:
- orb100177
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- WDR16 antibody
Related genes to: WDR16 antibody
- Gene:
- CFAP52 NIH gene
- Name:
- cilia and flagella associated protein 52
- Previous symbol:
- WDR16
- Synonyms:
- WDRPUH, FLJ37528
- Chromosome:
- 17p13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-16
- Date modifiied:
- 2014-11-19
Related products to: WDR16 antibody
Related articles to: WDR16 antibody
- Esophageal squamous cell cancer (ESCC) is one of the most common and lethal malignancies. It is urgent to uncover the underlying mechanisms for ESCC progression. Aberrant DNA methylation is observed in ESCC. However, the precise relationship between DNA methylation alterations and clinical features of ESCC is still largely unknown. We aimed to further explore the potential role of DNA methylation in the development of ESCC. - Source: PubMed
Publication date: 2025/11/10
Wang GuangchaoLv MengzhuWang YanZhan Qimin - The testis, a critical reproductive organ in male animals, is responsible for sperm production and androgen secretion. Testis weight often correlates with reproductive performance, yet the genetic factors influencing testicular traits in chickens remain unclear. - Source: PubMed
Publication date: 2025/05/27
Ma Jing-EHuang KeGibril Bahareldin Ali AbdallaXiong XinweiWu YanpingWang ZhangfengXu Jiguo - The underlying mechanisms of pediatric antrochoanal polyps (ACP)and chronic rhinosinusitis with nasal polyps (CRSwNP) remain largely unexplored. This study investigates their proteomic and metabolomic profiles to uncover unique and overlapping pathways, shedding light on their underlying causes. - Source: PubMed
Publication date: 2025/03/26
Chen Yong-ChaoWang XinPan Yan-WenTeng Yi-ShuPan Hong-Guang - There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features. Causative genes were identified in 22 families, including both established genes associated with syndromic hearing loss (PTPN11, CHD7, KARS1, OPA1, DLX5, MITF, SOX10, MYO7A, and USH2A) and those associated with nonsyndromic hearing loss (STRC, EYA4, and KCNQ4). Association of a DLX5 variant with incomplete partition type I (IP-I) anomaly of the inner ear was identified in a patient with cleft lip and palate and acetabular dysplasia. The study identified COL1A1, CFAP52, and NSD1 as causative genes through phenotype similarity search or by analogy. ZBTB10 was proposed as a novel candidate gene for syndromic hearing loss with IP-I. A mouse model with homozygous Zbtb10 frameshift variant resulted in embryonic lethality, suggesting the importance of this gene for early embryonic development. Our data highlight a wide spectrum of rare causative genes in patients with syndromic hearing loss, and demonstrate that WES analysis combined with phenotype similarity search is a valuable approach for clinical genetic testing of undiagnosed disease. - Source: PubMed
Publication date: 2025/01/04
Mutai HidekiMiya FuyukiNara KiyomitsuYamamoto NobukoInoue SatomiMurakami HarukaNamba KazunoriShitara HiroshiMinami ShujiroNakano AtsukoArimoto YukikoMorimoto NorikoKawasaki TaijiWasano KoichiroFujioka MasatoUchida YasueKaga KimitakaYamazawa KazukiKikkawa YoshiakiKosaki KenjiroTsunoda TatsuhikoMatsunaga Tatsuo - Male infertility is a worldwide population health concern. Asthenoteratozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. No evidence indicates the relevance of mutations to human male infertility. Our whole-exome sequencing identified compound heterozygous mutations in recessively cosegregating with male infertility status in a non-consanguineous Chinese family. Spermatozoa of -mutant patient mainly exhibited abnormal head-tail connection and deformed flagella. -knockout mice resembled the human infertile phenotype, showing a mixed acephalic spermatozoa syndrome (ASS) and multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. The ultrastructural analyses further revealed a failure of connecting piece formation and a serious disorder of '9+2' axoneme structure. CFAP52 interacts with a head-tail coupling regulator SPATA6 and is essential for its stability. Expression of microtubule inner proteins and radial spoke proteins were reduced after the CFAP52 deficiency. Moreover, CFAP52-associated male infertility in humans and mice could be overcome by intracytoplasmic sperm injection (ICSI). The study reveals a prominent role for CFAP52 in sperm development, suggesting that CFAP52 might be a novel diagnostic target for male infertility with defects of sperm head-tail connection and flagella development. - Source: PubMed
Publication date: 2023/12/21
Jin Hui-JuanRuan TiechaoDai SiyuGeng Xin-YanYang YihongShen YingChen Su-Ren