Results 31 to 40 of about 395,730 (157)

Retinal hemangioblastoma vascular detail elucidated on swept source optical coherence tomography angiography

open access: yesAmerican Journal of Ophthalmology Case Reports, 2021
Purpose: To report the distinct vascular pattern of a treatment-naïve retinal hemangioblastoma imaged on swept source optical coherence tomography angiography (SS-OCTA).
Eugenia P. Custo Greig, Jay S. Duker
doaj   +1 more source

Development of drugs targeting hypoxia‐inducible factor against tumor cells with VHL mutation: Story of 127 years

open access: yesCancer Science, Volume 114, Issue 4, Page 1208-1217, April 2023., 2023
pVHL forms an E3 ubiquitin ligase complex with Elongin B/C, Cul‐2, and Rbx‐1. The beta‐domain of pVHL recognizes one or two hydroxylated proline residue(s) in the NTAD of HIF alpha, binds to HIF alpha, and targets HIF alpha for ubiquitin‐dependent protein degradation at the proteasome.
Hajime Takamori   +4 more
wiley   +1 more source

Embryonal and non‐meningothelial mesenchymal tumors of the central nervous system – Advances in diagnosis and prognostication

open access: yesBrain Pathology, Volume 32, Issue 4, July 2022., 2022
A concise review of the CNS embryonal and mesenchymal non‐meningothelial tumors, comprising the most current available information with clinical implications. Abstract The 5th edition of the WHO Classification of Tumours of the Central Nervous System introduces new entities, and provides updated guidance regarding the diagnostic criteria for tumors of ...
David M. Meredith, Sanda Alexandrescu
wiley   +1 more source

β3‐Adrenoceptor, a novel player in the round‐trip from neonatal diseases to cancer: Suggestive clues from embryo

open access: yesMedicinal Research Reviews, Volume 42, Issue 3, Page 1179-1201, May 2022., 2022
Abstract The role of the β‐adrenoceptors (β‐ARs) in hypoxia‐driven diseases has gained visibility after the demonstration that propranolol promotes the regression of infantile hemangiomas and ameliorates the signs of retinopathy of prematurity (ROP). Besides the role of β2‐ARs, preclinical studies in ROP have also revealed that β3‐ARs are upregulated ...
Luca Filippi   +4 more
wiley   +1 more source

Hamartomas of the Retina and Optic Disc

open access: yesTürk Oftalmoloji Dergisi, 2022
Hamartomas are local malformation of cells that demonstrate abnormal proliferation in the area where they are normally present. Retinal and optic disc hamartomas include astrocytic hamartoma, congenital hypertrophy of the retinal pigment epithelium ...
Ibadulla Mirzayev, Ahmet Kaan Gündüz
doaj   +1 more source

Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis

open access: yesJournal of Oncology, Volume 2020, Issue 1, 2020., 2020
Next generation sequencing (NGS) is widely used for diagnosing hereditary cancer syndromes. Often, exome sequencing and extended gene panel approaches are the only means that can be used to detect a pathogenic germline mutation in the case of multiple primary tumors, early onset, a family history of cancer, or a lack of specific signs associated with a
Dmitry S. Mikhaylenko   +4 more
wiley   +1 more source

A Case of Von Hippel–Lindau Disease with Bilateral Pheochromocytoma and Ectopic Hypersecretion of Intact Parathyroid Hormone in an Adolescent Girl

open access: yesCase Reports in Endocrinology, Volume 2020, Issue 1, 2020., 2020
Von Hippel–Lindau disease is an autosomal dominant inherited syndrome predisposing to a variety of highly vascularised tumors in different organs. Although bilateral pheochromocytoma was reported in patients with von Hippel–Lindau disease, the coexistence of primary hyperparathyroidism is not a common condition.
Rym Belaid   +6 more
wiley   +1 more source

Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome. [PDF]

open access: yesMol Vis, 2021
To describe genetic analysis, treatment results, and complications of patients affected by retinal capillary hemangioblastoma (RCH) in von Hippel Lindau (VHL) syndrome.We collected 17 patients with VHL syndrome, who underwent a molecular test and an ophthalmic evaluation at the Eye Clinic of the University Hospital of Florence from January 2005 to ...
Murro V   +10 more
europepmc   +3 more sources

DIAGNOSING VON HIPPEL LINDAU DISEASE BY RETINAL CAPILLARY HAEMANGIOBLASTOMAS

open access: yesIJRETINA (International Journal of Retina), 2022
Introduction: Von Hippel-Lindau (VHL) syndrome is a disease characterized by the formation of tumors or cysts in many different parts of the body caused by germline. The prevalence of this autosomal dominant condition is very rare.
Yurike Mandrasari   +3 more
doaj   +1 more source

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