Results 31 to 40 of about 9,097,505 (214)

Peripheral retinal nonperfusion using widefield imaging with von Hippel-Lindau disease

International Journal of Retina and Vitreous, 2018
Background To describe a case of von Hippel-Lindau disease with peripheral retinal nonperfusion. Case presentation A 66-year-old female with known cerebellar and midbrain hemangioblastomas was evaluated for a retinal hemangioblastoma in the right eye ...
Jose S. Pulido, Lauren A. Dalvin, Timothy W. Olsen, Fukutaro Mano, Michael Yu, Carol L. Shields   +5 more
doaj   +1 more source

Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease

Frontiers in Oncology, 2023
We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could
Raffaele Scafa, Maurizio Merico, Alfonso Massimiliano Ferrara, Sara Watutantrige Fernando, Pava Srsen, Francesca Schiavi, Stefania Zovato, Alberto Ferlin, Alberto Ferlin   +8 more
doaj   +1 more source

The Endothelial Landscape and Its Role in Von Hippel–Lindau Disease

, 2021
Von Hippel–Lindau disease (VHL) is a rare hereditary disease characterized by the predisposal to develop different types of highly vascularized tumors.
Rojas-P, Isabel de, Taranets, Lyudmyla, Lucía Recio-Poveda, Virginia Albiñana, Thales Kronenberger, Popov, Nikita, Isabel de Rojas-P, Angel M. Cuesta, Botella, Luisa María, Lyudmyla Taranets, Botella, Luisa M., Nikita Popov, Albiñana, Virginia, Kronenberger, Thales, Rojas-P., Isabel de, Cuesta, Ángel M., Cuesta Martínez, Ángel, Luisa M. Botella, Recio-Poveda, Lucía   +18 more
core   +1 more source

von Hippel-Lindau Disease

Medicine, 1997
von Hippel-Lindau disease is a hereditary cancer syndrome characterized by the development of vascular tumors of the central nervous system and retina, clear cell renal carcinomas, pheochromocytomas, pancreatic islet cell tumors, endolymphatic sac tumors, and benign cysts affecting a variety of organs. VHL disease is caused by germline mutations of the
E R, Maher, W G, Kaelin
openaire   +2 more sources

Hemangioblastoma with late leptomeningeal metastasis: a case report

Journal of Medical Case Reports, 2023
Background Hemangioblastoma of the central nervous system is an uncommon benign neoplasm, with about 25% of cases in patients with von Hippel–Lindau disease. The incidence of metastasis is rare, particularly in patients without von Hippel–Lindau disease.
Spencer J. Poiset, Aneesh Reddy, Catherine M. Tucker, Lawrence C. Kenyon, Kevin D. Judy, Wenyin Shi   +5 more
doaj   +1 more source

Genetics of Von Hippel-Lindau Disease [PDF]

American Journal of Neuroradiology, 2016
VHL : Von Hippel Lindau pVHL : VHL protein HIF : hypoxia-inducible factor Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant syndrome that is associated with the development of tumors in a variety of organ systems, most commonly hemangioblastoma of the central nervous system ...
D.C. Dwyer, R.K. Tu
openaire   +2 more sources

Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease [PDF]

, 2017
[Background] Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central nervous system (CNS) and retina,
Luis Rodríguez Padial, Villar Gómez de las Heras, Karina, Rosa María Jiménez Escribano, Jiménez Escribano, Rosa María, Virginia Albiñana, Luisa María Botella, Isabel Soler, Botella, Luisa María, Albiñana, Virginia, Rodríguez Padial, Luis, Karina Villar Gómez de las Heras, Recio-Poveda, Lucía, Soler, Isabel, Lucia Recio-Poveda   +13 more
core   +1 more source

Functional analysis of the von Hippel-Lindau tumour suppressor and its role in tumourigenesis [PDF]

, 2004
Complex genotype-phenotype relations are a hallmark of VHL disease. Patients develop a wide range of tumours depending on how and where pVHL malfunctions.
Barry, Robert Edward
core   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

The pVHL neglected functions, a tale of hypoxia-dependent and -independent regulations in cancer [PDF]

Open Biology, 2020
The von Hippel–Lindau protein (pVHL) is a tumour suppressor mainly known for its role as master regulator of hypoxia-inducible factor (HIF) activity.
Giovanni Minervini, Maria Pennuto, Silvio C. E. Tosatto   +2 more
doaj   +1 more source