41. Show-documents.asp von hippellindau disease (VHL) Written Information. Care Treatment. - von hippel-lindau disease New Search Contact Us Disclaimer Send this link http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1372

42. Clinical Trial: 17AAG To Treat Kidney Tumors In Von Hippel-Lindau Disease Patients 18 years of age and older with von hippellindau disease who have at least Von Hippel Lindau disease is a hereditary cancer syndrome in which http://www.clinicaltrials.gov/ct/show/NCT00088374

Home Search Browse Resources ... About 17AAG to Treat Kidney Tumors in von Hippel-Lindau Disease This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) March 15, 2005 Sponsored by: National Cancer Institute (NCI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will examine whether the drug 17AAG (17-allylamino 17-demethoxygeldanamycin) can shrink kidney tumors in patients with Von Hippel-Lindau disease (VHL), a rare, inherited syndrome in which patients develop tumors in certain parts of the body. 17AAG contributes to the destruction of proteins in cells that may play a role in causing cancer and spurring tumor growth. The study will also look at the effect of 17AAG on other tumors patients may have that are caused by VHL, on the amount of blood vessels in the tumors, on the biologic activity of the tumor, and on cells circulating in the bloodstream, as well as the safety of the drug and its impact on the kidney tumor in patients whose tumor(s) is removed. Patients 18 years of age and older with von Hippel-Lindau disease who have at least one kidney tumor large enough to pose a risk of metastasis (spread of the cancer to other parts of the body) may be eligible for this study. Candidates are screened with a medical history and physical examination, computed tomography (CT) scan, brain magnetic resonance imaging (MRI, see below), and blood and urine tests. Additional tests, including a 24-hour urine collection, ultrasound of the testicles in men, hearing test, eye exam, and MRI of the spine, may be done if recent test results are not available.

43. Clinical Trial: Treatment Of Von Hippel-Lindau (VHL)-Related Hemangioblastoma Wi von hippellindau disease CNS hemangioblastoma Retinal Hemangioblastoma, Drug PTK787/ZK 222584, Phase II MedlinePlus related topics Neurologic Diseases; http://www.clinicaltrials.gov/ct/gui/show/NCT00052013

Home Search Browse Resources ... About Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma with PTK787/ZK 222584 This study is currently recruiting patients. Verified by Novartis July 2004 Sponsored by: Novartis Information provided by: Novartis ClinicalTrials.gov Identifier: Purpose The purpose of this study is to determine whether PTK787/ZK 222584 is effective in treating hemangioblastoma of the brain and/or retina in patients with von Hippel-Lindau disease. The study will also assess safety and tolerability of PTK787/ZK 222584, and changes in markers of angiogenesis (new blood vessel growth). Condition Intervention Phase von Hippel-Lindau Disease CNS hemangioblastoma Retinal Hemangioblastoma Drug: PTK787/ZK 222584 Phase II MedlinePlus related topics: Neurologic Diseases Vascular Diseases Genetics Home Reference related topics: von Hippel-Lindau syndrome Study Type: Interventional Study Design: Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study Official Title: A Phase II Open-Label Study of Oral, Continuous, Once Daily PTK787/ZK 222584 in Patients with Von Hippel-Lindau Disease (VHL) and Hemangioblastoma (HB)

44. Von Hippel-Lindau Disease@Everything2.com von hippellindau disease The medical name for this congenital disease is retinocerebral angiomatosis . It is characterized by the development of blood http://www.everything2.com/index.pl?node_id=1452018

45. Von Hippel-Lindau Disease von hippellindau disease Universal VHL-Mutations Database von hippel-lindau disease Von Hippel Lindau Disease Genetic, Clinical and Imaging Features http://www.bdid.com/vhld.htm

HOME Von Hippel-Lindau Disease Von Hippel-Lindau disease Universal VHL-Mutations Database VON HIPPEL-LINDAU DISEASE Von Hippel Lindau Disease: Genetic, Clinical and Imaging Features ... HOME

46. SupportPath.com: Von Hippel-Lindau Disease SupportPath.com leads you to Internet resources for supportrelated information on hundreds of health, personal, and relationship topics. http://www.supportpath.com/sl_v/von_hippel_lindau_disease.htm

von Hippel-Lindau Disease VHL is a hereditary disease where angiomas (abnormal nodules) form in the small blood vessels (capillaries) of the retina or brain. Angiomas can weaken the capillary walls leading to leakage of blood which can damage surrounding tissues. Fluid-filled cysts and tumors may also be present in the spinal cord, pancreas, kidney or liver. There is no cure for VHL. Also called: VHL, Cerebroretinal angiomatosis, Lindau-von Hippel disease, Retinocerebral angiomatosis Other topics of interest on SupportPath.com: Rare Disorders Visual Impairment About Us Add-A-Link ... here Online Communities / Message Boards... None Listed Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations... UNITED STATES VHL Family Alliance Website: http://www.vhl.org/

47. Von Hippel Lindau Disease von hippellindau disease is a rare inherited multi-system disorder characterized by the abnormal growth of blood vessels in certain parts of the body http://www.bchealthguide.org/kbase/nord/nord181.htm

var hwPrint=1;var hwDocHWID="nord181";var hwDocTitle="Von Hippel Lindau Disease";var hwRank="1";var hwSectionHWID="nord181-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Von Hippel Lindau Disease Important It is possible that the main title of the report Von Hippel Lindau Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Angiomatosis Retinae Angiophakomatosis Retinae et Cerebelli Cerebelloretinal Hemangioblastomatosis Hippel Disease Hippel-Lindau Syndrome HLS Lindau Disease Retinocerebellar Angiomatosis VHL Disorder Subdivisions None General Discussion Von Hippel-Lindau Disease is a rare inherited multi-system disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign growths known as angiomas. These may develop in the retinas of the eyes (retinoangioma) or in the brain (cerebellar hemangioblastoma). Benign growths may also occur in other parts of the brain, spinal cord, the adrenal glands (pheochromocytoma), and other parts of the body. The symptoms of von Hippel-Lindau Disease vary greatly and depend on the size and location of the growths. People with von Hippel-Lindau Disease are also genetically predisposed to certain types of malignant tumors (i.e., renal cell carcinoma). Resources VHL Family Alliance

48. Frederik Jan Hes: Von Hippel-Lindau Disease: Clinical And Genetic Investigations von hippellindau disease clinical and genetic investigations in the Netherlands. http://www.library.uu.nl/digiarchief/dip/diss/1898214/inhoud.htm

Von Hippel-Lindau disease: clinical and genetic investigations in the Netherlands Von Hippel-Lindau disease: clinical and genetic investigations in the Netherlands / Frederik Jan Hes - [S.l.] : [s.n.], 2000 - Tekst. - Proefschrift Universiteit Utrecht NBC: 44.48: medische genetica Trefwoorden: Medical genetics Abstract PDF Title Contents Abbreviations Chapter 1: Objectives and general introduction ... Volledig proefschrift (10.037 kB)

49. Von Hippel-Lindau Disease These little knots are called angiomas, or hemangioblastomas. Radiology Von Hippel Lindau Disease Genetic, Clinical and Imaging Features from the NIH. http://www.reference.com/Dir/Health/Conditions_and_Diseases/Genetic_Disorders/Vo

Dictionary Thesaurus Encyclopedia Web Home Premium: Sign up Login YOUR AD HERE Dictionary ... Encyclopedia - Web Directory Web Directory Top Health Conditions and Diseases Genetic Disorders / Von Hippel-Lindau Disease Von Hippel-Lindau (VHL) Family Alliance A genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels. While blood vessels normally grow like trees, in people with VHL little knots of capillaries sometimes occur. These little knots are called angiomas, or hemangioblastomas. Radiology: Von Hippel Lindau Disease Genetic, Clinical and Imaging Features from the NIH. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Lexico Publishing Group, LLC ... Contact Us

50. Von Hippel-Lindau Disease By Jeff Allred von hippellindau disease was suspected and confirmed after genetic testing. The case study shows how von hippel-lindau disease has been passed down http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/J. Allred

Von Hippel-Lindau Disease by Jeff Allred Von Hippel-Lindau Disease (VHL), although once thought to be rare, is one of the most common familial cancers. VHL disease is caused by a mutation in a gene located on the short arm of chromosome 3 responsible for tumor suppression. The genetic mutation causes capillary growth to go uncontrolled in parts of the body that are particularly rich in blood vessels. The uncontrolled growth of this vascular tissue causes the capillaries to form knots. These small knots are called angiomas, or hemangioblastomas. Cysts may also grow around angiomas. Dr. Eugene Von Hippel described angiomas in the eye in 1904. Many years later in 1926, Dr. Arvid Lindau described hemangioblastomas of the cerebellum and spine. Their names are usually associated with their respective areas of discovery. In June 1993 the VHL gene was identified (Science May 28, 1993). Since the gene was isolated, the make up of the protein that it codes for has been established. However, the exact function of that protein is still not understood. The September 8, 1995, issue of Science documented how the Conaway team located a substance called Elogin that is important in cell growth. Elogin is made up of three small proteins (A, B and C). It is thought to play a role in cell development and death. The VHL gene encodes for a specific protein 213 amino acids long. However, to use this code it must first be transcribed into RNA which is translated into Elogin. The transcription process begins with an initiation and then continues with elongation. Elogin plays a key role in elongation. The VHL protein binds to Elogin substrates therefore inhibiting formation. The absence of Elogin blocks transcription which stops the cell from dividing uncontrollably.

51. Article : Von Hippel-Lindau Disease ; Author : S Moorthy ; Co-Author(s) : N K Pr von hippellindau disease is a rare familial syndrome characterized by multiple A diagnosis of Von Hippel Lindau disease can be made if the patient has http://www.ijri.org/articles/archives/2002-12-3/neuroradiology_325.htm

Neuroradiology Von Hippel-Lindau Disease S Moorthy, N K Prabhu, K P Sreekumar Ind J Radiol Imag 2002 12:3:325-327 Keywords : Venous aneurysm, Anterior Jugular Vein, CT Angiography Von Hippel-Lindau disease is a rare familial syndrome characterized by multiple central nervous system hemangioblastomas, retinal angiomas and cysts and tumours of the abdominal viscera. Hemangioblastomas have very typical imaging features. Since there are no cutaneous markers in this syndrome, the diagnosis can be achieved only radiologically in most cases. Because of its proven capability in brain and spine imaging, MRI is the modality of choice in diagnosing the central nervous system manifestations of Von Hippel-Lindau disease. Case Report Fig. 1. Unenhanced spin echo T1 sagittal scan of cervical spine shows ill-defined isointense mass in upper cervical cord (asterisk). Scattered flow voids seen within and on the surface of mass (black open arrows). Syrinx involving rest of cervical and upper thoracic cord (arrow). Fig. 2. Enhanced spin echo T1 sagittal scan shows intensely enhancing well-defined intramedullary mass (asterisk) at C2 level. Note flow void dorsal to mass (black open arrow). Two other enhancing nodules seen in inferior vermis and cerebellar hemisphere (white open arrows).

52. Hippel-Lindau Disease - Cerebelloretinal Angiomatosis, Familial - Information Pa 17AAG to Treat Kidney Tumors in von hippellindau disease Treatment of von Hippel-Lindau (VHL)-Related Hemangioblastoma with PTK787/ZK 222584 http://www.hon.ch/HONselect/RareDiseases/EN/C10.562.400.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Hippel-Lindau Disease": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Hippel-Lindau Disease Definition: An autosomal dominant disorder associated with various neoplasms including central nervous system (most often cerebellar) and retinal HEMANGIOBLASTOMA , endolymphatic sac tumors, renal cell carcinoma (see CARCINOMA, RENAL CELL ), renal and pancreatic cysts, HEMANGIOMA of the spinal cord, and PHEOCHROMOCYTOMA . The most common presenting manifestations are neurologic deficits associated with intracranial hemangioblastomas which may HEMORRHAGE , causing ataxia, INTRACRANIAL HYPERTENSION , and other signs of neurologic dysfunction. (From Neurochirurgie 1998 Nov;44(4):258-66) Synonym(s): Cerebelloretinal Angiomatosis, Familial / Lindau Disease / von Hippel-Lindau Disease / Familial Cerebello-Retinal Angiomatosis /

53. The NCI Kidney Cancer Treatment Web Page von hippellindau disease is a very rare illness in which several tumors The gene (VHL) that causes von hippel-lindau disease was discovered in 1993. http://web.ncifcrf.gov/research/kidney/vonhip.html

Von Hippel-Lindau Disease Von Hippel-Lindau disease is a very rare illness in which several tumors run in families. Afflicted individuals can develop cancers of the kidney, brain, spinal cord, pancreas, adrenal gland and eye. The gene (VHL) that causes von Hippel-Lindau disease was discovered in 1993. Because the VHL gene was found, it is now possible to do DNA diagnosis in members of families with von Hippel-Lindau disease. More than 500 members of von Hippel-Lindau disease families have come to the National Cancer Institute, National Institutes of Health for examinations and evaluations as part of the Familial Kidney Tumor Program. Physicians at the National Institutes of Health have become quite experienced and knowledgeable in the treatment of people afflicted with this health problem. Special surgical procedures have been developed to remove kidney tumors from patients with von Hippel-Lindau disease without removing the entire kidney. Research scientists around the world have identified mutations that cause von Hippel-Lindau disease. More than 130 different mutations in the VHL gene have been identified to date. For further information: Von Hippel-Lindau Syndrome Home Page Von Hippel-Lindau Syndrome Family Alliance DNA Diagnosis Photomicrographs of Familial Kidney Cancer ... World Last updated by Berton Zbar M.D.

54. VHL - Von Hippel-Lindau Disease Tumor Suppressor TaqI and PstI RFLPs in the von hippellindau disease gene ( VHL). In this article, I reviewed von hippel-lindau disease ( VHL) gene and tuberous http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/93058.html

TH is also regulated by the von Hippel-Lindau tumor suppressor protein ( pVHL Abstract-9661994 Furthermore, inhibition of Rho kinase by Y-27632 blocked pVHL induction by hypoxia Abstract-10204632 Chemokine receptor downregulated by von Hippel-Lindau tumour suppressor pVHL Abstract-9991218 HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation. Abstract-8832894 VHL gene deletions have been previously reported in VHL- associated macroscopic RCC Abstract-808638 Of these 9 genes, expression of the gene was specifically downregulated by VHL Abstract-9662018 We postulated that a specific pattern of VHL mutations is associated with sporadic RCC Abstract-8286616 During normoxia, pVHL expression was also induced in cells transfected with dominant-active RhoA Abstract-10204632 VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma.

55. Vhlh - Von Hippel-Lindau Disease Tumor Suppressor The most common cause of inherited RCC is the Von Hippel Lindau disease ( VHL) a von HippelLindau ( VHL) disease is a multisystem inherited cancer http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/125900.html

The VHL gene was disrupted by targeted homologous recombination in murine embryonic stem cells, and a mouse line containing an inactivated VHL allele was generated. Abstract-1138092 We generated mice carrying conditional VHL alleles and a cre transgene under the control of the human beta-actin promoter, which directs cre expression in a mosaic pattern in multiple organs. Abstract-9995481 As cytotrophoblasts attached to and invaded the uterus , which results in their increased exposure to oxygen, pVHL staining was abruptly downregulated concordant with localization of to the nucleus. Abstract-8805900 Here, we report that a ubiquitin-like molecule called covalently modifies pVHL Abstract-10221116 Recently, a protein ( ) was isolated that was found to bind to the VHL protein in vivo. Abstract-1758074 To investigate VHL function in the adult we have generated a conditional VHL null allele (2-lox allele) and null allele (1-lox allele) by Cre-mediated recombination in embryonic stem cells. Abstract-8716984 Under normoxic conditions the hypoxia-inducible factor-1alpha ( HIF-1alpha ) protein is targeted for degradation by the von Hippel-Lindau ( pVHL ) tumor suppressor protein acting as an E3 ubiquitin ligase.

56. Txt001frb: Molecular Pathology Of Von Hippel-Lindau Disease And The VHL Tumour S (1988) von hippellindau disease maps to the region of chromosome 3 (1997) Somatic inactivation of the VHL gene in von hippel-lindau disease tumors. http://www-ermm.cbcu.cam.ac.uk/01002654h.htm

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/ Accession information: (01)00265-4h.htm (shortcode: txt001frb); 19 March 2001 Reprint/PDF version How to cite this article VHL tumour suppressor gene Frances M. Richards VHL gene was isolated in 1993 and mutations or deletions in the VHL VHL gene is deleted, mutated or silenced by promoter methylation in the tumours from VHL patients, and in a large proportion of sporadic tumours of the same histological types as observed in VHL disease. Thus, the VHL gene is of major importance in the development of RCC in the general population. Recent advances in understanding the structure and function of the VHL protein (pVHL) have revealed insights into the different phenotypes, with indications that some retention of function might be required for predisposition to phaeochromocytoma. pVHL interacts with many cellular proteins, mainly via one of two protein-binding domains ( a and b ). The best-characterised interaction is that of pVHL with elongin C, which forms a complex with elongin B and Cullin 2 proteins. This complex has E3 ubiquitin ligase activity and promotes ubiquitin-mediated proteasomal degradation of the hypoxia-inducible factor 1 a (HIF-1 a ) transcription factor under normal oxygen (normoxic) conditions. Loss of pVHL function leads to stabilisation of HIF-1 and expression under normoxic conditions of hypoxia-inducible genes including vascular endothelial growth factor (VEGF), which might explain the hypervascular phenotype of VHL tumours. Several other genes implicated in intra- and intercellular signalling and control of tumour growth are overexpressed in the absence of pVHL, but it is not yet clear which features of pVHL function are most significant for tumour suppression in different tissues. Further advances in understanding pVHL function might eventually enable development of specific therapies for prevention or treatment of VHL tumours and RCC.

57. Project: Functional Analysis Of The Von Hippel-Lindau Tumor Suppressor Gene Usin The von hippellindau disease is an hereditary cancer syndrome characterized by the development of vascular tumors in the central nervous system, kidneys, http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1270136/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Functional analysis of the Von Hippel-Lindau tumor suppressor gene using conditional gene disruption. Print View Titel Functionele analyse van het Von Hippel-Lindau tumor suppressor-gen middels conditionele gendisruptie. Abstract Background: The von Hippel-Lindau disease is an hereditary cancer syndrome characterized by the development of vascular tumors in the central nervous system, kidneys, eyes, adrenals and the formation of cysts in liver, pancreas and epididymis. lnactivation of this gene is also a critical event in the pathogenesis of non-hereditary clear cell renal cancer. The current care of von Hippel-Lindau patients is based on early detection and timely management of the lesions. The mainstay of treatment is surgery (hemangioblastoma, renal cel cancer, pheochromocytoma) and laser photocoagulation (retinal angiomas). However, repetitive surgery has a significant impact on the quality of life of these patients. The development of novel treatment strategies are needed to prevent or to non-invasively treat clinical manifestations of von Hippel-Lindau disease. Purpose: Functional analysis of the von Hippel-Lindau gene is currently performed in von Hippel-Lindau deficient renal cell cancer lines. Because cancer cells have an unstable genome this may not be the best background for functional studies. The generation of homozygous von Hippel-Lindau deficient mice was hampered by an impaired placental vasculogenesis which lead to embryonic death. The purpose of this project is to generate a conditional von Hippel-Lindau knock-out mouse. This mouse will not only provide a system to perform studies on the function of the von Hippel-Lindau tumor suppressor gene in primary cells but may also serve as a model to test novel treatment strategies for von Hippel-Lindau disease and sporadic renal cell cancer.

58. InterPro: IPR002714 Tumor Suppressor Protein, Von Hippel-Lindau Disease P40337 von hippellindau disease tumor suppressor (pVHL) (G7 protein). IPR002714Tumor suppressor protein, von hippel-lindau disease 1-213 http://www.ebi.ac.uk/interpro/DisplayIproEntry?ac=IPR002714

59. UpToDate Clinical Features, Diagnosis, And Management Of Von Hippel-Lindau Disea INTRODUCTION — von HippelLindau (VHL) disease is an inherited, (See Molecular biology and pathogenesis of von hippel-lindau disease ). http://patients.uptodate.com/topic.asp?file=brain_ca/15247

60. Neurocutaneous Syndromes von hippellindau disease is a genetic disorder involving the abnormal growth of blood vessels. It usually occurs in certain areas of the body, http://kidshealth.org/parent/medical/learning/neurocutaneous_p4.html

KidsHealth Parents Medical Problems Learning Disorders Ataxia Telangiectasia Ataxia telangiectasia is a progressive degenerative disease that involves a large number of major body systems. According to the Ataxia-Telangiectasia Children's Project, A-T is a recessive genetic disease, meaning that both parents carry the gene that could combine to cause A-T in their children but do not have the disease themselves. Two parents with the mutated gene have a 25% chance of having a child affected by A-T. A-T is usually noticed in the second year of life as a child develops problems with balance and slurred speech caused by ataxia (lack of muscle control). The onset of ataxia signifies that the cerebellum, the part of the brain that controls muscle movement, is degenerating. Eventually, the lack of muscle control becomes severe enough for the child to require a wheelchair. Another symptom of A-T is the appearance of tiny, red, spiderlike veins in the corners of the eyes or on the ears and cheeks when exposed to sunlight. The veins are known as "telangiectases," and they are harmless. About 70% of children with A-T also have immune system problems that make them more susceptible to chronic upper respiratory infections, lung infections, and pneumonia. In many children, these infections, when combined with a weakened immune system, can be fatal. Children with A-T are also very susceptible to developing certain cancers, such as

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