Ext2 Lysate
- Known as:
- Ext2 Lysate
- Catalog number:
- NBL1-10392
- Product Quantity:
- 0.1 mg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- Ext2 Lysate
Related genes to: Ext2 Lysate
- Gene:
- EXT2 NIH gene
- Name:
- exostosin glycosyltransferase 2
- Previous symbol:
- -
- Synonyms:
- SOTV
- Chromosome:
- 11p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1994-06-01
- Date modifiied:
- 2019-04-23
Related products to: Ext2 Lysate
Related articles to: Ext2 Lysate
- Contactin-1-associated membranous nephropathy is a rare type of membranous nephropathy typically seen in the setting of chronic inflammatory demyelinating polyneuropathy. Here we present a case of a 79-year-old man who presented with ankle edema and was found to have 2,888 milligrams of proteinuria per 24 h and membranous nephropathy on kidney biopsy. Staining for multiple membranous antigens including phospholipase A-2 receptor, NELL-1, and EXT-2 were negative. Liquid chromatography tandem mass spectrometry was performed on glomeruli and identified contactin-1 as the target antigen. Classic secondary causes of membranous nephropathy were excluded including systemic autoimmune disease, malignancies, and medications. Interestingly, the membranous nephropathy occurred 1 month after receiving the last of five doses of mRNA COVID 1273 that occurred over a 19-month period. The patient subsequently underwent spontaneous remission without initiation of disease targeted therapy, suggesting a tentative association between the COVID-19 vaccination and the membranous nephropathy. Additionally, this patient did not have any significant neuropathies typically seen with contactin-1-associated membranous nephropathy. To our knowledge, this is the first case report demonstrating a temporal association between contactin-1-associated membranous nephropathy and vaccination against COVID-19 with mRNA 1273. Our findings in this case broaden the clinical spectrum of the rare contactin-1-associated membranous nephropathy. - Source: PubMed
Publication date: 2026/03/09
Zuckerman Jonathan ESisk AnthonyCopen Elliot ParhamCopen Stephen - : Lupus nephritis (LN) is one of the most severe complications of systemic lupus erythematosus (SLE); it is associated with increased morbidity and mortality, underscoring the need for new diagnostic markers and therapeutic strategies. In this context, the exostosin 1 (EXT1)/exostosin 2 (EXT2) heterodimer has emerged as a novel antigen in membranous nephropathy associated with SLE. This study evaluated EXT1 prevalence in renal biopsies from patients with lupus membranous nephropathy (LMN) and compared clinical, laboratory, and histopathological characteristics on diagnosis and renal outcomes. : This retrospective study included 97 LMN patients whose renal biopsy underwent immunohistochemistry (IHC) for EXT1. EXT1-positive and EXT1-negative groups were compared using descriptive analyses and repeated measures models. : EXT1 positivity was observed in 35% of the cohort, and is more frequent in pure LMN (40%) than in cases with a proliferative component (32%). Regarding SLE diagnostic criteria, EXT1-positive patients showed a higher frequency of antiphospholipid antibodies, although data were available for only a subset of patients. This group also exhibited lower serum creatinine levels, but without statistical significance. EXT1-negative patients more frequently received cyclophosphamide as induction therapy (57.6% vs. 34.5%; = 0.041). No differences in clinical outcomes were observed during follow-up. : EXT1 prevalence was consistent with the literature, reinforcing the epidemiological reproducibility of this marker. EXT1-positive and EXT1-negative groups did not differ regarding clinical presentation, disease progression, and renal outcomes, heightening the need for prospective studies to further elucidate the diagnostic and prognostic role of EXT1 in LMN. - Source: PubMed
Publication date: 2026/05/23
Assis Luiza Liza deMalheiros Denise Maria Avancini CostaZanetta Dirce MariaYu Luis - India possesses a rich diversity of indigenous cattle that are well adapted to varied agro-climatic regions. These populations exhibit remarkable variation in stature (height at withers), ranging from short-statured types such as Vechur, Punganur, Malnad Gidda, and Khariar to tall and heavy breeds like Kankrej, Ongole and other milch breeds (Sahiwal, Gir, etc.). The short-statured breeds offer potential advantages in feed efficiency, disease resilience, and cultural value besides being economical to maintain. However, their genetic basis for stature remains underexplored. This study leverages whole-genome resequencing (WGS) data on short-statured (n = 19) and tall (Kankrej as representative; n = 19) Indian cattle to delineate the copy number variation (CNV) landscape and selection signatures underpinning stature divergence. Post-quality control, CNVs were detected from duplicate-marked bam files using CNVnator with read-depth methodology, filtered (q0 < 0.5, p < 0.01, size 1 kb-5 Mb), and concatenated into CNV regions (CNVRs). Selection signatures were identified using cross population extended haplotype homozygosity (XP-EHH) methodology for inter-population comparison of short-statured cattle with tall cohort. Genes harboured under CNVRs and sweep windows were annotated using GALLO, with functional mining from literature databases. In short-statured cattle, 41,913 CNVs were concatenated into 10,075 CNVRs, with 8.01% genomic coverage. A total of 25 genes were found to be common across two analyses i.e., unique (non-overlapping) CN regions in 70% short-statured individuals and scan of selection signature. Key genes across the analyses included IGF1R (cell proliferation), FGFR3 (skeletal growth), SOX6 (body size), EXT2/LGR4 (bone density), PRKCD (developmental regulation), ADAMTSL2 (extracellular matrix integrity), SLC25A6 (glucose metabolism), and SDHA (energy supply). Unique non-overlapping copy number regions (e.g., 78 regions found in 100% of dwarf individuals) harbored several genes, including ARL13B (osteogenesis), AXIN2 (bone remodeling), CCND2 (myogenesis), and TNNT1 (muscle contraction). This comprehensive CNV map and scan for signatures of selection unveil stature-associated genomic variants, informing conservation strategies for threatened short-statured breeds by enhancing their socio-economic value through targeted breeding. The findings underscore CNVs as pivotal drivers of phenotypic diversity in cattle populations, with implications for livestock genomics and sustainable agriculture. - Source: PubMed
Publication date: 2026/06/08
Ahmad Sheikh FirdousAarif OvaisHassan Mir MehrozChand RoshniGangwar MunishT Sarath KumarKumar Amit - Growth hormone (GH) stimulation tests have limited reliability and may lead to false-positive results. - Source: PubMed
Publication date: 2026/05/07
Plachy LukasDusatkova PetraKavciak LukasAmaratunga Shenali AnneSlavenko MatveiDrabova JanaMaratova KlaraNeuman VitObermannova BarboraKolouskova StanislavaSnajderova MartaSumnik ZdenekLebl JanPruhova Stepanka - Proteoglycans are a major component of the connective tissue matrix, which consists of a core protein and covalently attached glycosaminoglycan (GAG) chains, which are highly sulfated polysaccharides with a tetrasaccharide linker for the core protein attachment. Impaired synthesis or degradation of GAG causes genetic disorders. In the 1950s, deficient lysosomal GAG degradation was discovered in mucopolysaccharidoses. In the 1990s, a defective enzyme for GAG synthesis was implicated in a variant of Ehlers-Danlos syndrome and an impaired GAG sulfation in diastrophic dysplasia. Newer studies have uncovered that abnormal GAG synthesis causes a large group of genetic skeletal disorders with joint and skin abnormalities. - Source: PubMed
Publication date: 2026/02/26
Tsujioka YukoSimsek Kiper Pelin OzlemUnger SheilaHanda AtsuhikoKono TatsuoJinzaki MasahiroRossi AntonioSuperti-Furga AndreaNishimura Gen