Results 41 to 50 of about 5,631,965 (202)

Von Hippel-Lindau syndrome and renal tumours: radiological diagnostic and treatment options. A case report and literature review

Acta Medica Lituanica, 2020
Background. Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome diagnosed for 1 out of 36000–45000 newborns and 90% of the patients have a clinical manifestation before 65 years of age.
Audrius Untanas, Mantas Trakymas, Indrė Lekienė, Rūta Briedienė   +3 more
doaj   +1 more source

Hereditary Renal Cell Carcinoma

Kidney Cancer, 2022
BACKGROUND: Hereditary renal cell carcinoma (RCC) is a complex and rapidly evolving topic as there is a growing body of literature regarding inherited syndromes and mutations associated with an increased risk of RCC.
Scott J. Dawsey, Shilpa Gupta
doaj   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Pancreatic neuroendocrine tumor with complete replacement of the pancreas by serous cystic neoplasms in a patient with von Hippel-Lindau disease: a case report

Surgical Case Reports, 2017
Background von Hippel-Lindau disease is a dominantly inherited multi-system syndrome with neoplastic hallmarks. Pancreatic lesions associated with von Hippel-Lindau include serous cystic neoplasms, simple cysts, and neuroendocrine tumors. The combination
Shimpei Maeda, Fuyuhiko Motoi, Shuhei Oana, Kyohei Ariake, Masamichi Mizuma, Takanori Morikawa, Hiroki Hayashi, Kei Nakagawa, Takashi Kamei, Takeshi Naitoh, Michiaki Unno   +10 more
doaj   +1 more source

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

Novel gene mutation in von Hippel-Lindau disease – a report of two cases

BMC Medical Genetics, 2019
Background Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported.
Jitian Wang, Wenjie Cao, Zhaoxia Wang, Hong Zhu   +3 more
doaj   +1 more source

Early‐onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data

Pulmonary Circulation, 2022
Very rare cases of pulmonary arterial hypertension (PAH) have been linked to homozygous or compound heterozygous von Hippel–Lindau (VHL) tumor suppressor gene mutations, while heterozygous VHL mutations lead to VHL tumor syndrome. Although those entities
Laura Chomette, Isabelle Migeotte, Céline Dewachter, Jean‐Luc Vachiery, Guillaume Smits, Antoine Bondue   +5 more
doaj   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Diagnostic Evaluation and Characterization of Von Hippel-Lindau (VHL) Syndrome by Functional Imaging (68Ga-DOTANOC, 99mTc-HYNIC-TOC, and 131I-MIBG)

Endocrinology Research and Practice, 2018
Von Hippel-Lindau syndrome, an autosomal dominant genetic disorder with high penetrance, is a rare genetic cause of pheochromocytoma and various other tumors, such as hemangioblastomas of retina and cerebellum, renal cell carcinoma, islet cell tumors ...
Mohd Ashraf GANIE, Alpesh GOYAL, Shyam KISHORE, Ramkumar S, Chandan J. DAS, P. N. DOGRA, C. S. BAL   +6 more
doaj   +1 more source

Regulatory harmonization: Evolution, globalization and future directions

British Journal of Clinical Pharmacology, EarlyView.
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm, Elaine Y. L. Blair, Christine Y. Lu   +2 more
wiley   +1 more source