Abstract:
:Von Hippel-Lindau (VHL) syndrome is an autosomal dominant neoplastic disorder characterized by hemangioblastomas of the central nervous system and retina, renal cell carcinomas, pheochromocytoma, and islet cell tumors. This syndrome is closely related with the VHL, a tumor suppressor gene, implying that loss of function or inactivating mutations of both alleles or copies of this gene cause tumor formation. The product of the VHL gene, pVHL, is known to be a component of ubiquitin ligase which targets the transcription factor such as hypoxia-inducible factor (HIF) for degradation in the presence of oxygen. Different VHL mutations confer different site-specific risks of cancer. However, the precise role of pVHL to develop only some specified tumors, especially pheochromocytoma, is not fully understood. We identified a missense mutation of VHL gene, 695 G --> A (R161Q), in a Japanese kindred with type 2A VHL syndrome. We analysed 16 members of this family and detected the same mutation in 8 individuals. All 5 members with tumors possessed the same mutation. Interestingly, one of the identical twins, who had the same R161Q germline mutation, did not show any visible tumors throughout the body, while another of the twins developed a huge pheochromocytoma and retinal angioma. Moreover, one of the affected members in the kindred developed pancreatic neuro-endocrine tumors without pheochromocytoma in spite of possessing the identical germline mutation of the VHL gene. These findings suggest that there are some other additional factors including environmental exposures to initiate and develop tumor formation in the VHL syndrome although abnormalities of VHL gene might be involved.
journal_name
Int J Mol Medjournal_title
International journal of molecular medicineauthors
Iida K,Okimura Y,Takahashi K,Inomata S,Iguchi G,Kaji H,Chihara Ksubject
Has Abstractpub_date
2004-03-01 00:00:00pages
401-4issue
3eissn
1107-3756issn
1791-244Xjournal_volume
13pub_type
杂志文章abstract::Effective drugs and strategies for treating type 2 diabetes mellitus (2‑DM) are urgently required. The aim of the present study was to elucidate the mechanism underlying microRNA (miR)‑6835‑3p regulation of adiponectin receptor 1 (AdipoR1) expression and the miR‑6835‑3p/AdipoR1 signaling pathway in pancreatic islet ce...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2018.3731
更新日期:2018-09-01 00:00:00
abstract::We assessed whether intratumoral expression of the fusogenic membrane protein of vesicular stomatitis virus (VSV-G), encoded by a replication-defective adenovirus vector (Ad.VSV-G), alone or in combination with local coexpression of cytokines induces tumor-specific immune responses in a syngeneic murine colon cancer m...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2007-11-01 00:00:00
abstract::Proteasome inhibitors, like MG132, can exert cell growth inhibitory and apoptotic effects in different tumor types. The apoptotic mechanism of these compounds involves the activation of the effector caspases. beta-catenin, also an oncogene, represents one of the substrates of these proteases, but the consequences of i...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2004-05-01 00:00:00
abstract::Colorectal cancer is the second leading cause of malignant death, and better preventive strategies are needed. The treatment of colonic cancer remains difficult because of the lack of effective chemotherapeutic agents; therefore it is important to continue to search for cellular functions that can be disrupted by chem...
journal_title:International journal of molecular medicine
pub_type: 杂志文章,评审
doi:
更新日期:2002-10-01 00:00:00
abstract::The ZNF268 gene was originally isolated from an early human embryo cDNA library. Several different transcripts have been isolated for the ZNF268 gene and developmental expression studies suggest that ZNF268 plays a role in the development of human fetal liver and the differentiation of blood cells. In our effort to st...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2006-09-01 00:00:00
abstract::Inflammatory genes serve a crucial role in the pathogenesis of inflammation‑associated tumors. However, as recent studies have mainly focused on the effects of single inflammatory genes on colorectal cancer (CRC), but not on the global interactions between genes, the underlying mechanisms between inflammatory genes and...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2018.3631
更新日期:2018-07-01 00:00:00
abstract::The human adrenocortical carcinoma-derived SW-13 cell line is currently used to study the interrelationships occurring between cytokines and growth factors and endothelins (ET) and adrenomedullin (AM). SW-13 cells express either ET-1 and AM or growth factors, and several cytokines stimulate ET-1 and AM release from SW...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2005-03-01 00:00:00
abstract::The circulating concentrations of triglycerides, high density lipoprotein (HDL)‑cholesterol, and low density lipoprotein (LDL)‑cholesterol have a substantial genetic component, and the heritability of early‑onset dyslipidemia might be expected to be higher compared with late‑onset forms. In the present study, exome‑wi...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2018.3943
更新日期:2019-01-01 00:00:00
abstract::DNA microarrays, which are among the most popular genomic tools, are widely applied in biology and medicine. Boutique arrays, which are small, spotted, dedicated microarrays, constitute an inexpensive alternative to whole-genome screening methods. The data extracted from each microarray-based experiment must be transf...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2013.1443
更新日期:2013-09-01 00:00:00
abstract::The immunosuppressive effect of triptolide has been associated with suppression of T-cell activation. However, the immunosuppressive effects of triptolide on innate immunity in the epithelial barrier remain to be elucidated. Human beta-defensin (HBD)-2 is an inducible antimicrobial peptide and plays an important role ...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2007-05-01 00:00:00
abstract::Periodontal disease is characterized by inflammation and bone loss. The balance between inflammatory mediators and their counter-regulatory molecules may be fundamental for determining the outcome of the immune pathology of periodontal disease. Transforming growth factor-β (TGF-β) and vascular endothelial growth facto...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2012.1024
更新日期:2012-09-01 00:00:00
abstract::Ouabain, an inhibitor of the Na+/K+-ATPase, has been reported to affect the secretory activity of the adrenal cortex, and especially of zona glomerulosa (ZG). However, conflicting results were obtained, depending on the experimental condition used since ouabain appears to interact with angiotensin-II (Ang-II) and its ...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2006-08-01 00:00:00
abstract::Free radicals derived from the reaction of iron and oxygen are thought to be one of the causes of tissue injury. In order to identify whether oxygen concentrations are an important factor in iron-mediated damage to cells, cytotoxic effects of Fe(3+)-NTA on human fibroblasts (KMST-6 line) were studied under the conditi...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract::Glioblastoma multiforme (GBM) is one of the most aggressive brain tumors. GBM represents >50% of primary tumors of the nervous system and ~20% of intracranial neoplasms. Standard treatment involves surgery, radiation and chemotherapy. However, the prognosis of GBM is usually poor, with a median survival of 15 months. ...
journal_title:International journal of molecular medicine
pub_type: 杂志文章,评审
doi:10.3892/ijmm.2018.3668
更新日期:2018-08-01 00:00:00
abstract::Epidemiological studies have indicated that increased consumption of cruciferous vegetables is associated with a statistically significant reduction in the risk for cancers. The major bioactive agent in these vegetables is a class of sulfur-containing glycosides called glucosinolates. Isothiocyanates, derivatives of g...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2007-03-01 00:00:00
abstract::Cancer stem cells (CSCs) have recently been linked to new treatment strategies for gastric cancer due to the critical role which they play as the 'heartbeat' of cancer. In the present study, we explored the effects of quercetin, an anti-inflammatory and antiviral compound, on gastric CSCs (GCSCs). We noted that quercet...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2016.2625
更新日期:2016-08-01 00:00:00
abstract::Aberrant glycosylation is a universal feature of cancer cells. There are quantitative and qualitative changes in expression of gangliosides observed in tumors of a neuroectodermal origin such as neuroblastoma, melanoma and astrocytoma. The presence of large amounts of GD2 ganglioside on neuroblastoma cells, as compare...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2007-05-01 00:00:00
abstract::The mechanisms through which mechanical ventilation causes non-infectious inflammatory diseases and lung injury are poorly understood. Animals models of this type of injury suggest that it involves signaling mediated by Toll‑like receptor (TLR)4 and 9. In this study, in order to gain further insight into the involveme...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2017.2873
更新日期:2017-03-01 00:00:00
abstract::Biologically well-tolerated materials are at the core of intense research. In this study, we report both the intrinsic features of formic acid (FA)-crosslinked three-dimensional (3D) nonwoven scaffolds consisting of sericin-deprived, Bombyx mori silk fibroin (SF) in beta-sheet form and the long-term co-culture of adul...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2006-08-01 00:00:00
abstract::Hypertension impairs the morphological and functional integrity of circulation. Previous research has shown that the loss of endothelial cells (ECs) is a common event in many cardiovascular diseases. p120 catenin (p120ctn) plays an important role in the regulation of inflammatory responses in ECs. However, the functio...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2016.2476
更新日期:2016-03-01 00:00:00
abstract::FAT atypical cadherin 1 (FAT1) regulates complex mechanisms for the promotion of oncogenesis or the suppression of malignancies. Sulforaphane (SFN) has antioxidant and anti‑tumor activities. The present study investigated the roles of SFN and FAT1 in bladder cancer (BC). The expression of FAT1 in BC cell lines and tis...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2020.4665
更新日期:2020-09-01 00:00:00
abstract::Numerous studies have demonstrated the antioxidant effects of grape seed proanthocyanidin extract (GSPE). The generation of free radicals and the ensuing apoptosis may contribute to the pathogenesis of epilepsy; therefore, in the present study, we examined the effects of GSPE on cognitive impairment and neuronal damag...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2014.1796
更新日期:2014-08-01 00:00:00
abstract::We evaluated the mechanism of antitumor effects of buserelin, which is one of LH-RH agonists, on a hormone dependent breast cancer model, using 7,12-dimethylbenz(a)anthracene (DMBA)-induced rat mammary cancer. Rats developing solid mammary tumors within 5-7 weeks following the DMBA administration were divided into gro...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.4.2.145
更新日期:1999-08-01 00:00:00
abstract::Age-related macular degeneration (AMD) is the leading cause of impaired vision and blindness in the aging population. The aims of our studies were to identify qualitative and quantitative alterations in mitochondria in human retinal pigment epithelium (RPE) from AMD patients and con...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2012.1164
更新日期:2013-01-01 00:00:00
abstract::Schiff bases have been intensively investigated due to their antibacterial and antitumor properties. Copper is a cofactor essential for the tumor angiogenesis processes, whereas other transition metals are not. Consistently, high serum or tissue levels of copper were found in many types of human cancer including breas...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2008-11-01 00:00:00
abstract::Neuromedin-U (NMU) is a brain-gut peptide, which has been previously found to stimulate hypothalamic-pituitary-adrenal axis in the rat. Enucleation-induced adrenal regeneration in rats with contralateral adrenalectomy is a well-established model of adrenal growth, that not only depends on the compensatory ACTH hyperse...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2008-06-01 00:00:00
abstract::GINS2 has been found to be closely related to cell proliferation, survival and maintenance of genomic integrity in addition to the induction of polyploidy. However, the molecular mechanisms of GINS2-mediated tumor regression have not been fully elucidated. Our study showed that GINS2 interacted with PML-C (a structura...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2013.1339
更新日期:2013-06-01 00:00:00
abstract::Recent studies have suggested that calcium‑activated potassium channel (KCa) agonists increase the proportion of mouse embryonic stem cell‑derived cardiomyocytes and promote the differentiation of pacemaker cells. In the present study, it was hypothesized that adipose‑derived stem cells (ADSCs) can differentiate into ...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2019.4374
更新日期:2019-12-01 00:00:00
abstract::Ulcerative colitis (UC) is a chronic relapsing inflammatory bowel disease, yet its etiology and pathogenesis remain poorly understood. The aberrant expression of T lymphocytes plays an essential role in the progression of UC. This study aimed to evaluate the expression profile of circulating Th17, Th1 and Tc1 cells in...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2013.1287
更新日期:2013-04-01 00:00:00
abstract::CREB binding protein (CBP) plays a central role in cell differentiation and proliferation, interacting with a large number of nuclear factors. To find novel nuclear factors associating with CBP, we have carried out yeast two-hybrid screening of human chondrocyte cDNA library using the C/H3 region of CBP as a bait and ...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2003-06-01 00:00:00