Ask about this productRelated genes to: PTCH2 antibody
- Gene:
- PTCH2 NIH gene
- Name:
- patched 2
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 1p34.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-10-19
- Date modifiied:
- 2014-11-19
Related products to: PTCH2 antibody
Related articles to: PTCH2 antibody
- Bariatric surgery induces profound weight loss and improvement of obesity-associated metabolic dysfunction. Recent studies have shown that adipose tissue undergoes remodeling after weight loss, characterized by a reduction in proinflammatory immune cells, increased vascularization, and a shift in the adipocyte transcriptome, but these studies focused on time points long after surgery. We performed single nucleus RNA-seq (snRNA-seq) in subcutaneous white adipose tissue (SAT) samples from subjects with obesity undergoing bariatric surgery, collected at baseline and at one, six, and twelve months after surgery. We identify profound remodeling of SAT within the first month after surgery, characterized by a surge in lipid-associated macrophages and sharp reductions in specific populations of adipocytes, adipose stromal and progenitor cells (ASPCs), and endothelial cells. Transcriptional profiles strongly suggest that some adipocytes undergo apoptosis soon after surgery, while new adipocytes are generated by differentiation. Mechanistically, the data are consistent with a model whereby coordinated early loss of a hedgehog signaling axis between endothelial cells and an anti-adipogenic population of ASPCs known as adipose regulatory cells (Aregs; ASPC ) enables a transient burst of adipogenesis to occur. Interestingly, very few of these early features seen in human subjects are represented in a mouse model of surgical weight loss. - Source: PubMed
Publication date: 2026/04/15
Yang Loureiro ZingerWestcott Gregory PGulko AntonEssene AdamZhou ZhiboLiang WenleJacobs ChristopherNagesh SoumyaBozadjieva-Kramer NadejdaSeeley Randy JGourash WilliamLoureiro Joseph JJennings Lori LGerszten Robert ECourcoulas AnitaTsai Linus TEmont Margo PRosen Evan D - Eccrine porocarcinoma (EPC), a rare malignant eccrine gland tumour, remains molecularly understudied. Transcriptomic studies of EPC and benign eccrine poroma (EP) have identified recurrent fusions and expression changes, but differences distinguishing malignant EPC from benign EP are unclear. RNA was extracted from formalin-fixed, paraffin-embedded (FFPE) samples (13 EPCs and 49 EPs) from Helsinki Biobank and Finnish Clinical Biobank Tampere. RNA sequencing characterized transcriptomic profiles. Histopathological features were assessed on haematoxylin-eosin-stained sections, and fusion genes were evaluated by NUT and YAP1 immunohistochemistry. EPCs and EPs clustered into two transcriptomic groups regardless of tumour subtype, primarily distinguished by differential expression of genes involved in skin metabolism. The metabolism-high group showed higher expression of genes associated with immune-related processes, mesothelin, and Ras-MAPK signalling. The metabolism-low group contained a subgroup enriched for Hedgehog pathway-associated genes, such as GLI1, GLI2, HHIP, LRP2, and PTCH2. All samples with the YAP1-NUTM1 fusion pattern belonged to the metabolism-low group and showed elevated NUTM1 expression in the heatmap. RNA sequencing revealed transcriptomic subgroups in EPC/EP partly linked to fusions. The results underscore the necessity for further investigation into the disrupted signalling pathways, which may facilitate the development of targeted therapies. - Source: PubMed
Puttonen MayaKilpinen Samivon Willebrand MariaOjala KalleBöhling TomKoljonen VirveSihto Harri - Gorlin-Goltz syndrome, also called Basal cell nevus syndrome (BCNS), Nevoid basal cell carcinoma syndrome (NBCCS), or Basal nevus cell carcinoma syndrome (BNCCS) is a rare, inherited, autosomal dominant genodermatoses, with variable expression and complete penetrance, characterized by the occurrence of multiple basal cell carcinomas (BCCs) at a young age, palmoplantar pits, keratocystic odontogenic tumors, intracranial ectopic calcifications, facial dysmorphism, and ocular and skeletal anomalies. It occurs due to a defective hedgehog cell signaling pathway, caused by heterozygous germ-line mutations in either Patched 1 (PTCH1), Suppressor of fused (SUFU), Smoothened (SMO), or Patched 2 (PTCH2) genes, leading to tumorigenesis and various developmental anomalies. Because of variable phenotypic expression, the syndrome is difficult to diagnose and is often diagnosed late, increasing the risk of morbidity and rarely mortality in the patients. The gene mutated also determines the phenotypic expression of the syndrome. Detection of the gene mutated plays an important role in, antenatal diagnosis, confirming the diagnosis when in doubt clinically and predictive diagnosis in family members of the affected individuals, which helps us to diagnose the syndrome early, hence screen for various clinical manifestations at the appropriate age according to the gene that is mutated and initiate early treatment to reduce morbidity and mortality. - Source: PubMed
Publication date: 2026/02/27
Madhu M - Transforming growth factor β (TGF-β) is a pluripotent cytokine that plays a pivotal role in regulating bone remodeling. In this study, we investigated the skeletal phenotype of 24-week-old transgenic female mice expressing a constitutively active TGF-β receptor type I (TβRI) under the control of inducible Mx1-Cre promoter. Poly(I:C) injection was used to induce expression of TβRI to generate Mx1;TβRICA mice. In Mx1;TβRICA mice, serum calcium levels were increased, while parathyroid hormone (PTH) levels were decreased. Micro-computed tomography (μCT) analysis revealed a significant increase in cancellous and cortical bone volume in femurs and mandibles of Mx1;TβRICA mice compared to wild type mice. Histomorphometric analysis confirmed that this enhanced bone volume was associated with an increased number of osteoblasts and a reduced number of osteoclasts. Constitutive TβRI activation resulted in increased alkaline phosphatase and mineralization in primary cultures, while osteoclast cultures from Mx1;TβRICA mice formed decreased TRAP positive osteoclasts compared to wild-type mice. Furthermore, qPCR analysis demonstrated upregulation of osteoblast differentiation markers, including Runx2, Sp7, Alpl, Col1a1, and Ptch2, while osteoclast-related genes such as Ctsk and Acp5 were downregulated in both femoral and mandibular bone in vivo. Similarly, osteoblast-related genes were increased in Mx1;TβRICA osteoblasts, whereas osteoclast-related genes were decreased in Mx1;TβRICA osteoclasts in vitro. Mx1;TβRICA mice had increased microindentation. These results suggest that constitutive activation of TGF-β signaling promotes bone formation by stimulating osteoblast number while suppressing osteoclast number. This study highlights the important role of TGF-β in bone remodeling and homeostasis and may provide potential therapeutic targets for TβRI-associated bone diseases. - Source: PubMed
Publication date: 2026/03/02
Chotipinit TipthananToejing ParichartPhetkong ChinnatamSridurongrit SomyothLeelahavanichkul AsadaCharles Julia FLotinun Sutada - The Hedgehog (Hh) signaling pathway is a key regulator of adipogenesis and lipid metabolism. However, the specific role of its receptor, Patched2 (Ptch2), in these processes remains unclear. Here, using a CRISPR/Cas9-mediated homozygous mutation model in Nile tilapia (), we found that Ptch2 deficiency induced visceral and perirenal lipomatosis characterized by small, multinucleated adipocytes. Comparative adipose transcriptomics revealed pronounced adipogenic reprogramming, with marked upregulation of genes governing de novo lipogenesis (e.g., , ), fatty acid desaturation (e.g., , ), and triglyceride synthesis (e.g., , ). Biochemically, mutants exhibited elevated blood glucose and liver transaminases (alanine aminotransferase, aspartate aminotransferase) activity, and reduced alkaline phosphatase activity, indicating systemic metabolic dysregulation and hepatic stress. Our findings demonstrate that loss of Ptch2 triggers lipoma formation and adipogenic transcriptome reprogramming, highlighting its essential role in maintaining adipose tissue homeostasis. - Source: PubMed
Publication date: 2026/01/28
Zhao ChangleLiu XiangPeng XiChen YongxunPeng ShijianLiu LeiWang DeshouWei Jing