Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background

L Fishbein, KL Nathanson - Cancer genetics, 2012 - Elsevier
Pheochromocytomas and paragangliomas (PCC/PGL) are tumors derived from the adrenal
medulla or extra-adrenal ganglia, respectively. They are rare and often benign tumors that …

Alterations in VHL as potential biomarkers in renal-cell carcinoma

L Gossage, T Eisen - Nature reviews Clinical oncology, 2010 - nature.com
Germ line mutations in the VHL tumor-suppressor gene cause von Hippel–Lindau (VHL)
disease, a hereditary neoplastic disease associated with clear-cell renal-cell carcinomas …

SDM—a server for predicting effects of mutations on protein stability and malfunction

CL Worth, R Preissner, TL Blundell - Nucleic acids research, 2011 - academic.oup.com
The sheer volume of non-synonymous single nucleotide polymorphisms that have been
generated in recent years from projects such as the Human Genome Project, the HapMap …

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

CJ Ricketts, JR Forman, E Rattenberry… - Human …, 2010 - Wiley Online Library
Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL) …

Genetic analysis of von Hippel‐Lindau disease

M Nordstrom‐O'Brien, RB van der Luijt… - Human …, 2010 - Wiley Online Library
Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital
polycythemia, and are found in many sporadic tumor types as well. Reports of VHL …

Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning

AP Pandurangan, TL Blundell - Protein Science, 2020 - Wiley Online Library
Next‐generation sequencing methods have not only allowed an understanding of genome
sequence variation during the evolution of organisms but have also provided invaluable …

[HTML][HTML] Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata

M Ohh, CC Taber, FG Ferens, D Tarade - Elife, 2022 - elifesciences.org
von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that causes a
predisposition to renal clear-cell carcinoma, hemangioblastoma, pheochromocytoma, and …

VHL Gene Mutations and Their Effects on Hypoxia Inducible Factor HIFα: Identification of Potential Driver and Passenger Mutations

MP Rechsteiner, A von Teichman, A Nowicka, T Sulser… - Cancer research, 2011 - AACR
Mutations of the von Hippel-Lindau (VHL) gene are frequent in clear cell renal cell
carcinomas (ccRCC). Nonsense and frameshift mutations abrogate the function of the VHL …

TP53 mutations are common in all subtypes of epithelial ovarian cancer and occur concomitantly with KRAS mutations in the mucinous type

M Rechsteiner, AK Zimmermann, PJ Wild… - … and molecular pathology, 2013 - Elsevier
Aims Epithelial ovarian cancer (EOC) can be classified into four major types (serous,
endometrioid, clear cell, mucinous). The prevalence of driver gene mutations in the different …

[HTML][HTML] Identification and Characterization of Genetic Determinants of Isoniazid and Rifampicin Resistance in Mycobacterium tuberculosis in Southern India

A Munir, N Kumar, SB Ramalingam, S Tamilzhalagan… - Scientific reports, 2019 - nature.com
Abstract Drug-resistant tuberculosis (TB), one of the leading causes of death worldwide,
arises mainly from spontaneous mutations in the genome of Mycobacterium tuberculosis …