HNF1B antibody - N-terminal region (ARP32320_T100)
- Known as:
- HNF1B (anti-) - N-terminal region (ARP32320_T100)
- Catalog number:
- arp32320_t100
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- HNF1B antibody - N-terminal region (ARP32320_T100)
Related genes to: HNF1B antibody - N-terminal region (ARP32320_T100)
- Gene:
- HNF1B NIH gene
- Name:
- HNF1 homeobox B
- Previous symbol:
- TCF2
- Synonyms:
- LFB3, VHNF1, HNF1beta, MODY5
- Chromosome:
- 17q12
- Locus Type:
- gene with protein product
- Date approved:
- 1990-05-28
- Date modifiied:
- 2015-09-07
Related products to: HNF1B antibody - N-terminal region (ARP32320_T100)
Related articles to: HNF1B antibody - N-terminal region (ARP32320_T100)
- A 57-year-old female patient with tuberous sclerosis and end-stage renal failure who had a history of diabetes mellitus and repeated renal hemorrhage after induction of dialysis underwent surgical nephrectomy. The renal tissue that caused the hemorrhage consisted of adipocytes, blood vessels, and smooth muscle cells, so angiomyolipoma was diagnosed. The cause of the hemorrhage was thought to be an abnormality in the vascular structure, i.e., disruption of the elastic plates that make up the vessel wall, and the presence of a hematoma in the same area. Diabetic nephropathy, which was observed in the atrophied native kidney, was presumed to be the cause of end-stage renal failure. Genetic analysis confirmed the presence of TSC2 mutation, which is linked to tuberous sclerosis, and HNF1B mutation, which is linked to diabetes. To our knowledge, this is the first report of a patient with HNF1B mutation who may have developed end-stage renal failure because of diabetic nephropathy and who also had histologic evidence of renal hemorrhage. - Source: PubMed
Publication date: 2026/04/18
Sugimoto HisashiSawa NaokiOba YukiMizuno HirokiSekine AkinariYamanouchi MasayukiTanaka KihoHasegawa EikoSuwabe TatsuyaWada TakehikoYokoyama TakayoshiMiki KatsuyukiNakamura YukiIshii YasuoKono KeiOhashi KenichiTakazawa YutakaFujimaru TakuyaMori TakayasuSohara EiseiUbara Yoshifumi - BACKGROUND Renal cysts and diabetes syndrome (RCAD), caused by heterozygous variants or whole-gene deletions in the HNF1B gene, is a rare, multisystem disorder often detected prenatally by ultrasound findings of bilateral cystic or hyperechogenic kidneys. CASE REPORT We present the case of a 21-year-old woman (G3P2) at 19 weeks of gestation referred for detailed fetal evaluation due to bilateral hyperechogenic, polycystic kidneys and severe oligohydramnios. After counselling, an amnioinfusion was performed to enable amniocentesis and cytogenetic testing. Chromosomal microarray analysis identified a 1.4 Mb interstitial deletion at 17q12 (arr 17q12(34,850,785_36,248,926)x1), encompassing the HNF1B gene and consistent with RCAD syndrome. Family history revealed maternal renal cysts and paternal early-onset diabetes. Despite conservative management and monitoring, the pregnancy was complicated by intrauterine infection, leading to fetal death. CONCLUSIONS This case report expands the spectrum of prenatal findings associated with RCAD and emphasizes the importance of integrating ultrasonographic, genetic, and familial data in the diagnostic pathway. Chromosomal microarray analysis remains a pivotal tool for prenatal detection of HNF1B deletions and for differentiating RCAD from other cystic kidney diseases, such as autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD), which require targeted gene sequencing. Recognition of RCAD in the prenatal setting enables precise counselling, recurrence risk assessment, and postnatal follow-up planning for affected families. - Source: PubMed
Publication date: 2026/04/18
Manasar-Dyrbuś MaisaStojko RafałPaul-Samojedny MonikaWinkowska EwaStaniczek Jakub - Chronic kidney disease (CKD), which affects more than 10% of the global population, may continue to progress even after the triggering insult has resolved, suggesting the involvement of self-sustaining mechanisms that remain poorly understood. Here, we identify this molecular circuitry, centered on the transcription factor HNF1B, a key regulator of renal epithelial identity. In adult kidneys, HNF1B loss disrupts epithelial differentiation and quiescence, induces replication stress, and triggers CKD. Conversely, CKD itself epigenetically suppresses HNF1B activity, creating a vicious cycle that amplifies disease progression. In a cohort of 900 patients, lower HNF1B activity correlated with greater CKD severity, linking this mechanism to common forms of the disease. These findings unify rare Mendelian and common complex kidney disorders and identify HNF1B loss as a driver of CKD. - Source: PubMed
Publication date: 2026/04/16
Isnard PierreMakinistoglu Munevver ParlaLeibovici MichelLevinsohn JonathanZimmermann NicolasCohen CamilleGarbay SergeNguyen ClementGaglioti DeborahChiral MagaliGrevellec-Christophorou ArmelleFiorentino AriannaPeters Dorien J MFischer EvelyneBienaimé FrankSusztak KatalinTerzi FabiolaPontoglio Marco - Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to as HNF1B-related disease. While maturity-onset diabetes of the young type 5 is a well-recognized manifestation, neonatal diabetes mellitus (NDM) associated with HNF1B is exceedingly rare, and has only been reported in patients harboring single nucleotide variants. - Source: PubMed
Publication date: 2026/04/16
Kołbuc MarcinBednarek PawełMotyka RafałJarmoliński TomaszMichalak-Kloc MarzenaBeck Bodo BUrbańska-Kosińska MałgorzataZaniew Marcin - Gene mutations and altered epigenetic regulation of gene expression are characteristic features of malignant neoplasms. Combinations of these abnormalities form molecular features of individual tumors. In the large-scale Dependency Map (DepMap) project, the broad panels of human tumor cell lines are being tested for sensitivity to single gene inactivation. Using DepMap data, we have previously identified a set of genes termed supertargets, the deletion of which significantly reduced the survival of cells of a particular tissue origin while minimally impairing the unrelated cell lines. In the present study, we determined the factors of viability (inhibition of proliferation or death) of cell lines in which the supertarget genes have been deleted. We found that, in 79 % of cases, the reduced survival may be caused by epigenetic changes of gene expression. In the remaining 21 % of cases, it is associated with altered gene structure. Three groups containing different types of gene expression alterations can be distinguished. In the first group, the reduced cell survival correlated with a higher expression of the supertarget gene (e. g., SOX10 and HNF1B). In the second group, a gene different from the deleted supertarget was overexpressed (gene pairs: FOXA1 and SPDEF, TP63 and SERPINB13, etc.). The third group was characterized by correlations between low expression of a certain gene and tumor cell sensitivity (e. g., FAM126A and FAM126B, SMARCA2 and SMARCA4). The genetic changes included GOF mutations (KRAS, BRAF genes, etc.), LOF mutations (STAG1, SMARCA2 genes, etc.), gene fusions (BCR-ABL1, PAX3-FOXO1, etc.), and amplification (CPM, BEST3, etc.). Therefore, many different molecular mechanisms act as predictors of tumor cell response to inhibition of supertarget genes. - Source: PubMed
Chetverina D AKozelchuk N YLomaev D VShtil A AErokhin М M