Ask about this productRelated genes to: LPIN2 antibody
- Gene:
- LPIN2 NIH gene
- Name:
- lipin 2
- Previous symbol:
- -
- Synonyms:
- KIAA0249
- Chromosome:
- 18p11.31
- Locus Type:
- gene with protein product
- Date approved:
- 2001-01-24
- Date modifiied:
- 2019-04-23
Related products to: LPIN2 antibody
Related articles to: LPIN2 antibody
- Chronic nonbacterial osteomyelitis (CNO) and SAPHO (syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome are rare autoinflammatory diseases characterized by inflammatory manifestations of the skeletal system often accompanied by skin and less frequently intestinal and pulmonary involvement. Despite familial clustering being observed, the prevailing genetic causes are yet to be fully understood. This review article summarizes the current evidence on the genetic background of CNO. Rare functional variants in LPIN2, IL1RN, and FBLIM1 have been described in isolated individuals, suggesting monogenic inheritance, while more common susceptibility factors such as the HLA-B*27 allele and P2RX7 variants indicate a more complex mode of inheritance. Genetic overlaps with familial Mediterranean fever in the Turkish population and partial response of these CNO patients to colchicine could indicate a shared pathogenetic spectrum. In conclusion, the genetic architecture of CNO appears heterogeneous, encompassing susceptibility factors and, pathogenic variants with potential therapeutic implications. Lack of many solved cases underlines the necessity to perform further genetic research. - Source: PubMed
Publication date: 2026/01/21
Deen Hayatu MohammadHüffmeier Ulrike - Cancer stem cells (CSCs) exhibit reduced levels of reactive oxygen species (ROS) despite increased oxidative phosphorylation, through mechanisms that remain poorly understood. Understanding these mechanisms could lead to new strategies for identifying and eradicating CSCs. - Source: PubMed
Publication date: 2025/12/08
Lin Jiun-HanHsu Tien-WeiCheng Wei-ChungLiu Chen-ChiLi Anna Fen-YauHung Mien-ChieHsu Han-ShuiHung Shih-Chieh - 18p deletion syndrome is a rare chromosomal disorder that can present with a wide range of phenotypic features and is occasionally associated with autoimmune diseases. We report the case of a 3-year and 8-month-old girl who presented with polydipsia and polyuria and was subsequently diagnosed with type 1 diabetes mellitus (T1DM) based on clinical and laboratory findings. The patient exhibited dysmorphic facial features and developmental delay, leading to genetic testing, which revealed a 13.7 Mb deletion on the short arm of chromosome 18 (18p11.32p11.21). Over the following years, she developed additional features, including Hashimoto's thyroiditis, epilepsy, subaortic stenosis requiring surgical resection, IgA deficiency, bilateral sensorineural hearing loss, and myopia. Genetic analysis also identified the deletion of several potentially disease-modifying genes, including , and . This case highlights the potential role of genes within the 18p region in the pathogenesis of autoimmune endocrinopathies. It supports further investigation into the immunogenetic mechanisms in 18p deletion syndrome. - Source: PubMed
Publication date: 2025/11/06
Oktay Mehmet AliTunca Küçükali Elif TuğçeKılınç Uğurlu AylinDöğer EsraKayhan GülsümÇamurdan Mahmut OrhunBideci Aysun - The uropygial gland is a gland peculiar to birds, and it is widely recognized that its secretion confers water-repellent properties on the feather coat and maintains the suppleness of the feathers. The aim of this study was to reveal differences in the developmental patterns and the regulatory mechanisms of the uropygial glands among different goose breeds (Sichuan White goose, SW; Landes goose, LD; and Gang goose, GE) through comparative analysis of their uropygial gland histomorphological parameters and transcriptomic data during the period from week 0 to week 30 post-hatching. - Source: PubMed
Publication date: 2025/10/27
Hu ShenqiangChen ZhaoyanHuang FuliChen QingliangLi XiaopengChen JiasenSong YangHu JiweiLi LiangWang WanxiaWang Jiwen - Majeed syndrome is a rare autosomal recessive autoinflammatory disorder caused by LPIN2 mutations. It is characterized by chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and, in some cases, neutrophilic dermatoses. Its rarity and overlap with juvenile idiopathic arthritis (JIA) often lead to delayed or incorrect diagnoses. - Source: PubMed
Publication date: 2025/10/02
Wang ShashaYu TingHe XuelianDing YanWu Yali