CLDN19 antibody - C-terminal region (ARP33619_P050)
- Known as:
- CLDN19 (anti-) - C-terminal region (ARP33619_P050)
- Catalog number:
- arp33619_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- CLDN19 antibody - C-terminal region (ARP33619_P050)
Related genes to: CLDN19 antibody - C-terminal region (ARP33619_P050)
- Gene:
- CLDN19 NIH gene
- Name:
- claudin 19
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 1p34.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-03-15
- Date modifiied:
- 2015-08-24
Related products to: CLDN19 antibody - C-terminal region (ARP33619_P050)
Related articles to: CLDN19 antibody - C-terminal region (ARP33619_P050)
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy caused by mutations in the CLDN16 or CLDN19 genes, patients usually develop hypomagnesemia, hypercalciuria, nephrocalcinosis and renal failure early in life, and those with CLDN19 gene mutations have ocular findings in addition. Five children from four non-consanguineous Chinese Han families presenting with nephrocalcinosis and renal insufficiency were enrolled in our study. Metabolic profiling and radiology examinations were performed, in addition to whole exome sequencing (WES) used for detection of the causative variant. Clinical manifestations included polydipsia, polyuria, sterile leukocyturia or urinary tract infections. Meanwhile, hypomagnesemia was observed in the entire cohort on laboratory analyses. One patient presented with hemorrhagic ovarian cyst and proteinuria, and the renal biopsy revealed tubulointerstitial injury accompanied by glomerular sclerosis. Whole-exome sequencing identified four patients with compound heterozygosity in the CLDN16 gene, [c.217+5G>A]; [ c.218_382del], [c.130C>T]; [c.158delA] and [c.436C>T]; [c.158delA], and one patient with compound heterozygosity in the CLDN19 gene for the c.223G > S (p.G75S) variant and a novel frameshift pathogenic variant c.2;20delG (p.D74Tfs*10), which has not been previously reported in PubMed or ClinVar. Importantly, an unusual phenotype of hemorrhagic ovarian cyst was observed in one patient carrying CLDN16 mutations (c.217+5 (IVS2)G>A and c.218_382del). For the first time, we identified a novel CLDN19 pathogenic variant and documented hemorrhagic ovarian cyst in a patient with CLDN16 mutations. This study represents the largest multi-family analysis of FHHNC in a Chinese population cohort. Integrated clinical and genetic analyses of our patients might help to offer preliminary insights that contribute to refining the phenotypic and genotypic spectrum of this rare renal disorder. - Source: PubMed
Publication date: 2026/03/27
Wang ChunDing JuanjuanYang HuihuiHuang LinWang Xiaowen - The blood-retinal barrier (BRB) maintains neurovascular homeostasis by regulating solute and ion exchange between the retina and circulation. This selectivity depends on tight junctions (TJs), with claudin (Cldn) proteins forming the core structure that defines paracellular permeability. Distinct Cldn isoforms show cell-specific expression, with Cldn-5 predominating in the endothelial cells of the inner BRB and Cldn-19 is the signature Cldn in the retinal pigment epithelium forming the outer BRB. Disruption of these isoforms contributes to vascular leakage, inflammation, and neuronal loss across various ocular diseases. Cldn function in vascular homeostasis is multifaceted; barrier dysfunction does not always result from Cldn loss, as excessive expression or mislocalization, particularly of Cldn-5, can also impair BRB integrity. Cldns act as dynamic signaling hubs that respond to metabolic, oxidative, and mechanical stress and are regulated through VEGF, Wnt/β-catenin, and RhoA/ROCK pathways. This review summarizes current understanding of Cldn biology in retinal vascular regulation and highlights emerging therapeutic strategies aimed at stabilizing Cldn expression and junctional localization. Small molecules and blocking antibodies that enhance localization or prevent degradation are redefining barrier repair. Key questions remain regarding isoform specificity, inter-barrier communication, and systemic safety. Integrative omics and spatial imaging may reveal disease-specific Cldn signatures and guide molecular restoration of BRB integrity. - Source: PubMed
Publication date: 2026/02/27
Selim Mohamed SNarayanan S PriyaSomanath Payaningal R - Tight junctions seal the paracellular space between epithelial cells, with their claudin (CLDN) composition dictating epithelial permeability properties. In kidney thick ascending limbs, calcium is reabsorbed paracellularly through a meshwork of CLDN16 and CLDN19 polymers. CLDN14 is strongly upregulated by high blood calcium, restricts this paracellular calcium flux, and is linked to kidney stone disease. How CLDN14 controls paracellular calcium flux and structurally incorporates into this complex junction is unknown. Using confocal and super-resolution microscopy, we show that CLDN14 preferentially associates with CLDN19, thereby gradually replacing CLDN16 in the CLDN19 copolymer in vitro and in mice in vivo. The claudin switch depends on CLDN14 polymerization and occurs on a timescale of days via a pathway independent of dynamin-mediated endocytosis. Our findings reveal a mechanism of tight junction regulation, demonstrating how dynamic claudin remodeling within this complex structure controls renal calcium excretion and contributes to kidney stone pathogenesis. - Source: PubMed
Publication date: 2025/12/01
van der Veen Rozemarijn EBieck MarieMezouar NacéraHaucke VolkerDimke HenrikLehmann Martin - Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the and genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract infections, and renal dysfunction. We herein report a 22-year-old male born to consanguineous parents presenting with recurrent nephrolithiasis since early childhood. He gave a previous history of muscle cramps, tetany, and seizures on multiple occasions with reported hypocalcemia and hypomagnesemia. He had no ocular symptoms or any history of salt wasting. His family history is noncontributory. Laboratory parameters demonstrated persistent hypomagnesemia, hypercalciuria, secondary hyperparathyroidism, and mild renal impairment. Ultrasound and plain X-ray kidney-ureter-bladder (KUB) region illustrated bilateral nephrolithiasis and nephrocalcinosis. Genetic study identified a homozygous missense mutation in which correlates with the patient's clinical features. Mild renal dysfunction indicates that this patient may retain partial function. Treatment focused on high fluid intake with dietary changes along with potassium citrate and magnesium supplementation. FHHNC may go unnoticed during the evaluation of recurrent renal stones. Hence, this case report highlights the need for careful assessment of patients presenting with recurrent nephrolithiasis manifesting from an early age. Early distinction of the disease from other inherited tubulopathies may decelerate the progression of end-stage renal disease (ESRD) in FHHNC patients. - Source: PubMed
Publication date: 2025/11/24
Bhuiyan Abdullah Al NomanAkter NaziaHaq TahniyahFariduddin MdSelim Shahjada - Postherpetic neuralgia (PHN) remains challenging to treat, with 40%-50% of patients experiencing inadequate pain relief despite comprehensive interventions. Neuromodulation techniques such as pulsed radiofrequency (RF) and traditional methods such as fire acupuncture (FA) are increasingly used for PHN. This study investigated the combined effect of FA and RF on tactile allodynia in a rat model of PHN and explored its underlying mechanisms. - Source: PubMed
Publication date: 2025/09/19
Ding YajunCao HanzhongHuang YingXue HongCai ShenquanChen XiaohongDuan Manlin