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 …
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 …
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
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 …
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) …
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 …
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 …
sequence variation during the evolution of organisms but have also provided invaluable …
[HTML][HTML] Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata
von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that causes a
predisposition to renal clear-cell carcinoma, hemangioblastoma, pheochromocytoma, and …
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 …
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 …
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 …
arises mainly from spontaneous mutations in the genome of Mycobacterium tuberculosis …