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View article: Molecular profiling unveils genetic complexity and identifies potential new driver mechanisms in head and neck paragangliomas
Molecular profiling unveils genetic complexity and identifies potential new driver mechanisms in head and neck paragangliomas Open
View article: Expression of Homo Sapiens (Hsa)-miR-139-5p as a Clinically Feasible Prognostic Marker for Differentiated Thyroid Cancer
Expression of Homo Sapiens (Hsa)-miR-139-5p as a Clinically Feasible Prognostic Marker for Differentiated Thyroid Cancer Open
Prognostic uncertainty often leads to overtreatment of differentiated thyroid cancer (DTC) or unspecific management of more aggressive entities. MiR-139-5p (miR-139-5p) has emerged as a promising prognostic factor that may enhance current …
View article: MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma
MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma Open
View article: MAML3-fusions modulate Vascular and Immune Tumor Microenvironment and Confer High Metastatic Risk in Pheochromocytoma and Paraganglioma
MAML3-fusions modulate Vascular and Immune Tumor Microenvironment and Confer High Metastatic Risk in Pheochromocytoma and Paraganglioma Open
Background Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that encompass a genetically heterogeneous disease. Approximately 20-25% of diagnosed cases develop metastases, for which there is an absence of predict…
View article: REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial
REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial Open
View article: <i>DLST</i> mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling
<i>DLST</i> mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling Open
This work was supported by the Instituto de Salud Carlos III (ISCIII) through the "Acción Estratégica en Salud" (AES) (projects PI18/00454 and PI22/01490 to A.C. and PI20/01169 to M.R.), cofounded by the European Regional Development Fund …
View article: Data from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Data from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma Open
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associa…
View article: Supplementary Figure S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
(A) Quantitative PCR analysis of RBP1 expression of the 49 tumors included in the study compared to controls comprising five tumors carrying mutation in Krebs cycle genes and five cases carrying mutations in RET or NF1. RU: relative units.…
View article: Supplementary Figure S3 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S3 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
(A) Aspartate/glutamate ratios assessed by LC-MS in GOT2 KD Hela cells transfected with empty vector (EV), GOT2 wild-type (WT) cDNA, GOT2- c.223T>G cDNA, and GOT2- c.357A>T cDNA. The ratios were reported as means (n=3). Error bars represen…
View article: Supplementary Figures 1 - 3 from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Supplementary Figures 1 - 3 from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma Open
PDF file, 794KB, Supplementary figure S1. Gross MAX deletion analysis Supplementary figure S2. Immunohistochemical assessment. Supplementary figure S3. Pedigree of 3 families with affected relatives in more than one generation.
View article: Supplementary Figure S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
(A) Quantitative PCR analysis of RBP1 expression of the 49 tumors included in the study compared to controls comprising five tumors carrying mutation in Krebs cycle genes and five cases carrying mutations in RET or NF1. RU: relative units.…
View article: Supplementary Figure Legends from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure Legends from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
Legends of the Supplementary Figures
View article: Supplementary Figure Legends from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure Legends from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
Legends of the Supplementary Figures
View article: Supplementary Figure S4 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S4 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
DNA methylation (M-values) of the CpG island probes located within six PCC/PGL susceptibility genes encoding Krebs cycle enzymes (SDHA, SDHAF2, SDHB, SDHD, FH, and MDH2) in the 11 analyzed tumors, compared to in vitro methylated DNA (IVD).
View article: Supplementary Figure S2 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S2 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
(A) GOT2 western blot of HeLa cells stably silenced for GOT2 expression by shRNA transfection compared to non-silenced scrambled (Scr) control cells. β-actin was used as a loading control. (B) Number of GOT2 KD HeLa cells after transfectio…
View article: Supplementary Table S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Table S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
Genes included in the targeted next-generation sequencing panel
View article: Supplementary Figures 1 - 3 from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Supplementary Figures 1 - 3 from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma Open
PDF file, 794KB, Supplementary figure S1. Gross MAX deletion analysis Supplementary figure S2. Immunohistochemical assessment. Supplementary figure S3. Pedigree of 3 families with affected relatives in more than one generation.
View article: Data from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Data from <i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma Open
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associa…
View article: Data from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Data from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
Purpose: Mutations in Krebs cycle genes are frequently found in patients with pheochromocytomas/paragangliomas. Disruption of SDH, FH or MDH2 enzymatic activities lead to accumulation of specific metabolites, which give rise to epig…
View article: Supplementary Figure S2 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S2 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
(A) GOT2 western blot of HeLa cells stably silenced for GOT2 expression by shRNA transfection compared to non-silenced scrambled (Scr) control cells. β-actin was used as a loading control. (B) Number of GOT2 KD HeLa cells after transfectio…
View article: Data from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Data from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
Purpose: Mutations in Krebs cycle genes are frequently found in patients with pheochromocytomas/paragangliomas. Disruption of SDH, FH or MDH2 enzymatic activities lead to accumulation of specific metabolites, which give rise to epig…
View article: Supplementary Figure S3 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S3 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
(A) Aspartate/glutamate ratios assessed by LC-MS in GOT2 KD Hela cells transfected with empty vector (EV), GOT2 wild-type (WT) cDNA, GOT2- c.223T>G cDNA, and GOT2- c.357A>T cDNA. The ratios were reported as means (n=3). Error bars represen…
View article: Supplementary Table S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Table S1 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
Genes included in the targeted next-generation sequencing panel
View article: Supplementary Figure S4 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas
Supplementary Figure S4 from Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer–Predisposing Mutations in Pheochromocytomas and Paragangliomas Open
DNA methylation (M-values) of the CpG island probes located within six PCC/PGL susceptibility genes encoding Krebs cycle enzymes (SDHA, SDHAF2, SDHB, SDHD, FH, and MDH2) in the 11 analyzed tumors, compared to in vitro methylated DNA (IVD).
View article: Supplementary Table 2 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity
Supplementary Table 2 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity Open
PDF file - 79KB, Oligonucleotides used for TUBB1 sequencing, cloning and mutagenesis
View article: Data from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma
Data from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma Open
To date, few association studies have been done to better understand the genetic basis for the development of sporadic medullary thyroid carcinoma (sMTC). To identify additional low-penetrance genes, we have done a two-stage case-control s…
View article: Supplementary Table 3 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity
Supplementary Table 3 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity Open
PDF file - 99K, Clinical characteristics of the patients
View article: Supplementary Table 2 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity
Supplementary Table 2 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity Open
PDF file - 79KB, Oligonucleotides used for TUBB1 sequencing, cloning and mutagenesis
View article: Supplementary Table 1 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity
Supplementary Table 1 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity Open
PDF file - 72KB, Characteristics of the human cells used for qRT-PCR
View article: Supplementary Information and Tables 1-5 from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma
Supplementary Information and Tables 1-5 from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma Open
Supplementary Information and Tables 1-5 from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma