Lighting up Nobel Prize-winning studies with protein intrinsic disorder
L Piersimoni, M Abd el Malek, T Bhatia… - Cellular and Molecular …, 2022 - Springer
Intrinsically disordered proteins and regions (IDPs and IDRs) and their importance in biology
are becoming increasingly recognized in biology, biochemistry, molecular biology and …
are becoming increasingly recognized in biology, biochemistry, molecular biology and …
[HTML][HTML] von Hippel-Lindau syndrome
RS van Leeuwaarde, S Ahmad, TP Links, RH Giles - 2018 - europepmc.org
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain,
spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma …
spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma …
Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease
A Andreou, B Yngvadottir… - Human molecular …, 2022 - academic.oup.com
Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel–
Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL …
Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL …
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
To maximize the impact of precision medicine approaches, it is critical to identify genetic
variants underlying disease and to accurately quantify their functional effects. A gene …
variants underlying disease and to accurately quantify their functional effects. A gene …
The role of VHL in the development of von Hippel-Lindau disease and erythrocytosis
P Hudler, M Urbancic - Genes, 2022 - mdpi.com
Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem
neoplastic syndrome stemming from germline disease-associated variants of the VHL tumor …
neoplastic syndrome stemming from germline disease-associated variants of the VHL tumor …
[HTML][HTML] Biallelic ELOC-inactivated renal cell carcinoma: molecular features supporting classification as a distinct entity
AA Batavia, D Rutishauser, B Sobottka, P Schraml… - Modern Pathology, 2023 - Elsevier
Approximately 70% of clear cell renal cell carcinoma (ccRCC) is characterized by the
biallelic inactivation of von Hippel-Lindau (VHL) on chromosome 3p. ELOC-mutated …
biallelic inactivation of von Hippel-Lindau (VHL) on chromosome 3p. ELOC-mutated …
von Hippel-Lindau disease: an update
ER Maher, RN Sandford - Current Genetic Medicine Reports, 2019 - Springer
Abstract Purpose of Review In this review, we discuss the key molecular and clinical
developments in VHL disease that have the potential to impact on the natural history of the …
developments in VHL disease that have the potential to impact on the natural history of the …
Lysine deserts and cullin-RING ligase receptors: Navigating untrodden paths in proteostasis
The ubiquitin-proteasome system (UPS) governs the degradation of proteins by
ubiquitinating their lysine residues. Our study focuses on lysine deserts-regions in proteins …
ubiquitinating their lysine residues. Our study focuses on lysine deserts-regions in proteins …
Large scale genotype‐and Phenotype‐Driven machine learning in von Hippel‐Lindau disease
A Chiorean, KM Farncombe, S Delong… - Human …, 2022 - Wiley Online Library
Abstract Von Hippel‐Lindau (VHL) disease is a hereditary cancer syndrome where
individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and …
individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and …
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
ER Maher, J Adlard, J Barwell, AF Brady… - British Journal of …, 2022 - nature.com
Abstract Background Von Hippel-Lindau (VHL) disease is an inherited tumour
predisposition syndrome and a paradigm for the importance of early diagnosis and …
predisposition syndrome and a paradigm for the importance of early diagnosis and …