Ask about this productRelated genes to: PAFAH1B1 antibody
- Gene:
- PAFAH1B1 NIH gene
- Name:
- platelet activating factor acetylhydrolase 1b regulatory subunit 1
- Previous symbol:
- MDCR, MDS
- Synonyms:
- LIS1, PAFAH, NudF
- Chromosome:
- 17p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-04-03
- Date modifiied:
- 2016-06-13
Related products to: PAFAH1B1 antibody
Related articles to: PAFAH1B1 antibody
- Isolated lissencephaly sequence (ILS) is a severe neurodevelopmental disorder associated with 17p13.3 microdeletion. This 6-year longitudinal study aimed to systematically characterize physical and neurodevelopmental trajectories of a Chinese ILS patient and offer evidence for early diagnosis and clinical intervention. - Source: PubMed
Publication date: 2026/09/09
Tong JiaoChen XuWang TaoMa ShanZhao YaliShi DongdongWang XinYan Dongmei - Ovarian follicle development plays a crucial role in mammalian fertility, which is primarily regulated by granulosa cell (GC) proliferation and cell cycle. Cell cycle dysregulation collectively might drive follicular atresia through GC dysfunction. However, the underlying molecular mechanisms remain largely unexplored. - Source: PubMed
Publication date: 2026/09/01
He YingtingZhou YinqiWang RuiqiLiao WeiliLi NianLi JiaqiSun ZewenZhao JianguoYuan Xiaolong - Nodular fasciitis (NF) is a benign, rapidly growing myofibroblastic proliferation that can closely mimic sarcoma clinically, radiographically, and histologically, posing a significant diagnostic challenge. We report a case of an 11-year-old boy presenting with a painless but progressively enlarging periorbital mass initially suspected to be a dermoid cyst. Although his ultrasound was reassuring, MRI showed an enhancing lesion concerning for neoplasm, prompting surgical excision. Histopathologic evaluation revealed spindle-cell proliferation within a myxoid stroma consistent with NF. However, the USP6 fluorescence in situ hybridization analysis was negative. Further genomic analysis identified a rare USP6-PAFAH1B1 fusion. This case highlights a diagnostically challenging subset of NF in which conventional USP6 fluorescence in situ hybridization testing may be negative, necessitating next-generation sequencing for a definitive diagnosis. Increased awareness of NF and its clinical, histologic, genetic, and radiographic presentation is essential to avoid misdiagnosis and to guide appropriate management. - Source: PubMed
Publication date: 2026/09/11
Suri KashviyaLee AprilSeth NehaCoombs Allison - To report the clinical manifestations, genetic features, diagnosis, treatment, and prognosis of a child with bilateral open-lip schizencephaly complicated by West syndrome due to a variant of PAFAH1B1 gene, and review the relevant literature. - Source: PubMed
Liu XiaojuanMa HongdouLiu PeinaHu ZheyuGao MingdongSun Yonghong - - Source: PubMed
Publication date: 2026/08/27
Xiol ClaraOlival JonathanMartorell LoretoGómez-Chiari MartaOrtigoza-Escobar Juan Darío