KCNJ8 Antibody (N-term) Blocking Peptides
- Known as:
- KCNJ8 Antibody (N-terminus) Blocking Peptides
- Catalog number:
- BP12302a
- Product Quantity:
- 2
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- KCNJ8 Antibody (N-term) Blocking Peptides
Related genes to: KCNJ8 Antibody (N-term) Blocking Peptides
- Gene:
- KCNJ8 NIH gene
- Name:
- potassium voltage-gated channel subfamily J member 8
- Previous symbol:
- -
- Synonyms:
- Kir6.1
- Chromosome:
- 12p12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1995-07-18
- Date modifiied:
- 2016-02-04
Related products to: KCNJ8 Antibody (N-term) Blocking Peptides
Related articles to: KCNJ8 Antibody (N-term) Blocking Peptides
- Cantú syndrome (CS) comprises a group of rare multisystem and multi-organ diseases characterized by congenital hypertrichosis, facial dysmorphism, cardiomegaly, and skeletal abnormalities, as well as other clinical manifestations. The current understanding of CS is limited. It is easy to misdiagnose it due to its diverse clinical manifestations and a lack of awareness of the condition. Currently, it is thought that this disorder is inherited in an autosomal dominant manner and caused by mutations in the ATP-sensitive potassium (K) channel, which plays a vital role in both cardiovascular diseases and diabetes. There are currently no effective or specific treatments for CS, and there is a lack of research on the mechanisms of and therapy for this disease. Therefore, it is essential to raise awareness and educate people on CS. Herein, we summarize reported knowledge about CS, including its epidemiology, definition, clinical features, diagnosis, and treatment. - Source: PubMed
Publication date: 2026/07/16
He ShuijingHu DanNichols Colin GHuang Yan - : Cantú syndrome (OMIM #239850) is a rare autosomal dominant disorder caused by gain-of-function variants in or , which encode subunits of the ATP-sensitive potassium (K) channel. Its characteristic features-generalized hypertrichosis, coarse facial appearance, skeletal abnormalities, and cardiovascular involvement-may be overlooked when other major comorbidities dominate the clinical picture. : A 29-year-old Taiwanese woman, born prematurely and complicated by neonatal hydrocephalus with subdural hemorrhage requiring ventriculoperitoneal shunt placement, had been followed since infancy under a working diagnosis of cerebral palsy with left hemiparesis and borderline-to-mild intellectual disability. Over the ensuing years, additional features gradually emerged, including generalized hypertrichosis with thick scalp and body hair, coarse facial features, bilateral hallux valgus, mild thoracic scoliosis, polycystic ovaries, mild aortic regurgitation, recurrent hemoptysis associated with abnormal pulmonary vasculature, and iron-deficiency anemia. Earlier genetic investigations-including chromosome analysis (46,XX), array comparative genomic hybridization (array-CGH; 2013), and a trio-based next-generation sequencing study performed under a national rare disease research initiative (2019)-were unrevealing. Whole-genome sequencing performed in December 2025 identified a heterozygous variant (NM_020297.4:c.4174A>G, p.(Ile1392Val)), initially classified as a variant of uncertain significance. Parental Sanger sequencing confirmed the variant to be de novo, and reclassification according to ACMG/AMP criteria supported a likely pathogenic interpretation. Re-evaluation of the patient's phenotype demonstrated findings consistent with Cantú syndrome. : This case illustrates how Cantú syndrome may remain unrecognized for years when a prominent neurological comorbidity-perinatally acquired hydrocephalus and presumed cerebral palsy-dominates the clinical narrative. We report a previously undescribed de novo missense variant (c.4174A>G, p.(Ile1392Val)), thereby expanding the mutational spectrum associated with Cantú syndrome. This case also highlights the practical value of resequencing and periodic reanalysis using updated next-generation sequencing platforms in patients with long-standing undiagnosed disease, even after prior negative genetic testing. - Source: PubMed
Publication date: 2026/07/15
Lee Chung-LinChang Ya-HuiChuang Chih-KuangChiu Huei-ChingTu Yuan-RongLo Yun-TingWu Jun-YiLin Hsiang-YuLin Shuan-Pei - The normal structure and function of inner-ear blood vessels, including the microvascular network of the stria vascularis (SV) within the blood-labyrinth barrier (BLB), are essential for auditory function. Despite this, the genetic and molecular characteristics of cochlear vasculature are largely unexplored. In this study, we used single-cell RNA sequencing to profile endothelial cells (ECs) and pericytes (PCs) from the adult mouse cochlea. We found a distinct genetic profile and a higher angiogenic potential than observed in the blood-brain barrier (BBB). Two subclasses of PCs were identified. Type 1 PCs, with high levels of α-smooth muscle actin (Acta2) and Tagln, are located on pre-/post-capillary zones. Type 2 PCs, characterized by low Tagln and high Kcnj8/Abcc9 levels, are found specifically in capillary regions. In an ex vivo explant model, both subclasses showed tip-like behavior during sprouting. Ligand-receptor analysis indicated active EC-PC communication. This communication is mediated by adhesive signals, gap junctions, and vesicle trafficking. Using dual fluorescent reporter mouse models, we showed for the first time that PCs can exhibit tip-associated phenotypic plasticity with detectable NG2/PECAM-1 overlap at the sprout front. This tip-associated state may occur from existing cells or progenitors within the vascular niche. Our findings define the molecular signature of cochlear vessels and identify PCs as targets to promote vascular regeneration. This could have implications for hearing restoration when cochlear blood flow is compromised. - Source: PubMed
Publication date: 2026/06/04
Wang PingtingZhang YunpeiHou ZhiqiangZhang JinhuiSharma KushalShi Xiaorui - Adenosine triphosphate (ATP)-sensitive potassium cardiac channels (K) are composed of inward rectifying potassium channel (Kir) subunit Kir6.1 or Kir6.2, encoded by KCNJ8 or KCNJ11, and the sulfonylurea receptor SUR2 or SUR1, encoded by ABCC9 or ABCC8. - Source: PubMed
Publication date: 2026/04/16
Hu DanHuang YanRangel-Sandoval CinthiaSánchez-Pastor EnriqueOnetti Carlos GFerrer-Villada TaniaJiang Meng-NanHasdemir CanAkin IbrahimZhou Xiao-BoEl-Battrawy IbrahimCui MengRomano JohnPinheiro MariahAcuña-Ochoa Jose GChen LiangZhuang Le-NanHao Guo-LiangZhan Li-YingJiang HongAntzelevitch CharlesBarajas-Martínez Hector - Vascular mural cells (VMCs) are crucial for vascular stability, and their dysfunction underlies cardiovascular pathologies including atherosclerosis and aortic aneurysms. PINCH proteins are core focal adhesion components mediating integrin signaling, yet their roles in VMC development remain elusive. Here, we generated mice with conditional deletion of both PINCH1 and PINCH2 in Pdgfrb-lineage VMCs, which resulted in perinatal lethality accompanied by severe arterial enlargement, hemorrhage and defective angiogenesis. Mutant VMCs exhibited profound defects in cytoskeletal organization, proliferation, differentiation, adhesion and extracellular matrix assembly. Multi-omics analyses revealed that PINCH deficiency dysregulated phospho-signaling networks, hyperactivating PDGFR/EGFR/AKT/ERK and STAT/NF-κB pathways while impairing integrin-FAK-SRC and cell cycle-associated pathways (p53, p27). RNA-seq demonstrated altered expression of genes enriched in immune response (CD74, Tlr2), cytoskeleton (TUBB3, ACTA2) and VMC differentiation (Rgs5, Kcnj8, ABCC9). Importantly, we identified PINCH1 as a nuclear transcriptional coregulator that directly represses proliferative-inflammatory programs while promoting contractile-adhesive and cytoskeletal organization signatures. The clinical relevance of these findings is underscored by downregulation of PINCH genes in human atherosclerosis and Marfan syndrome aneurysms, with conserved dysregulation of key PINCH targets including CD74 and RGS5. Our work reveals a dual cytoplasmic-nuclear mechanism for PINCH in maintaining vascular homeostasis, providing both mechanistic insights and therapeutic targets for vascular diseases. - Source: PubMed
Publication date: 2026/03/08
Wang ChunxiaoJin YaoXin YuanfengXing QiankeZhu HongmingZou QichengYan JieLuo LinaLiang XingqunSun YunfuLiu Zhongmin