Interaction of germline variants in a family with a history of early‐onset clear cell renal cell carcinoma

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma

(2018) Maria I. Carlo et al.   JAMA Oncology

Succinate dehydrogenase (SDH)-deficient neoplasia

(2017) Anthony J Gill   HISTOPATHOLOGY

Re-evaluation of 33 ‘unclassified’ eosinophilic renal cell carcinomas in young patients

(2017) Yunjie Li et al.   HISTOPATHOLOGY

Paralog Specificity Determines Subcellular Distribution, Action Mechanism, and Anticancer Activity of TRAP1 Inhibitors

(2017) Hye-Kyung Park et al.   JOURNAL OF MEDICINAL CHEMISTRY

Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology

(2017) Robert J. Motzer et al.   Journal of the National Comprehensive Cancer Network

Therapeutic Targeting of Poly(ADP-Ribose) Polymerase-1 (PARP1) in Cancer: Current Developments, Therapeutic Strategies, and Future Opportunities

(2017) Jyotika Rajawat et al.   MEDICINAL RESEARCH REVIEWS

Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast

(2017) Sarah E. Calvo et al.   MOLECULAR & CELLULAR PROTEOMICS

Metabolic roles of poly(ADP-ribose) polymerases

(2017) András Vida et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Succinate: An initiator in tumorigenesis and progression

(2017) Ting Zhao et al.   Oncotarget

Symmetry broken and rebroken during the ATP hydrolysis cycle of the mitochondrial Hsp90 TRAP1

(2017) Daniel Elnatan et al.   eLife

The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste

(2017) Michael J. Hall et al.   JAMA Oncology

The Chaperone TRAP1 As a Modulator of the Mitochondrial Adaptations in Cancer Cells

(2017) Ionica Masgras et al.   Frontiers in Oncology

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

(2017) Ruth T. Casey et al.   Molecular Genetics & Genomic Medicine

Morphologic, Molecular, and Taxonomic Evolution of Renal Cell Carcinoma: A Conceptual Perspective With Emphasis on Updates to the 2016 World Health Organization Classification

(2016) Aaron M. Udager et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Tripping on TRIB3 at the junction of health, metabolic dysfunction and cancer

(2016) Debasis Mondal et al.   BIOCHIMIE

Management of renal cell carcinoma in young patients and patients with hereditary syndromes

(2016) Cynthia Leung et al.   CURRENT OPINION IN UROLOGY

Improving the in silico assessment of pathogenicity for compensated variants

(2016) Luisa Azevedo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs—Part A: Renal, Penile, and Testicular Tumours

(2016) Holger Moch et al.   EUROPEAN UROLOGY

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic Profiling

(2015) Evgeny Yakirevich et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Oncosuppressive functions of tribbles pseudokinase 3

(2015) M. Salazar et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The TRIB3 Q84R polymorphism, insulin resistance and related metabolic alterations

(2015) S. Prudente et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Unusual Zn(II) Affinities of Zinc Fingers of Poly(ADP-ribose) Polymerase 1 (PARP-1) Nuclear Protein

(2015) Karolina Bossak et al.   CHEMICAL RESEARCH IN TOXICOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Succinate dehydrogenase B: a new prognostic biomarker in clear cell renal cell carcinoma

(2015) Kristine M. Cornejo et al.   HUMAN PATHOLOGY

Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma

(2015) Yasemin Ozluk et al.   HUMAN PATHOLOGY

Development of a Mitochondria-Targeted Hsp90 Inhibitor Based on the Crystal Structures of Human TRAP1

(2015) Changwook Lee et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery

(2015) Neetu Saxena et al.   JNCI-Journal of the National Cancer Institute

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)

(2015) Thomas G Papathomas et al.   MODERN PATHOLOGY

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genetic Modifiers and Oligogenic Inheritance

(2015) M. Kousi et al.   Cold Spring Harbor Perspectives in Medicine

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery

(2015) Neetu Saxena et al.   JNCI-Journal of the National Cancer Institute

Succinate Dehydrogenase (SDH)-deficient Renal Carcinoma

(2014) Anthony J. Gill et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

(2014) G Herma Renkema et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

(2014) Lucie Evenepoel et al.   GENETICS IN MEDICINE

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) – A review

(2014) Markku Miettinen et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Comparison of Methods for the Extraction of DNA from Formalin-Fixed, Paraffin-Embedded Archival Tissues

(2014) Burcu Sengüven et al.   International Journal of Medical Sciences

Structural Asymmetry in the Closed State of Mitochondrial Hsp90 (TRAP1) Supports a Two-Step ATP Hydrolysis Mechanism

(2014) Laura A. Lavery et al.   MOLECULAR CELL

BioAssemblyModeler (BAM): User-Friendly Homology Modeling of Protein Homo- and Heterooligomers

(2014) Maxim V. Shapovalov et al.   PLoS One

Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: Implications for population susceptibility to diseases

(2013) M. Cristina Kenney et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

DNA repair genes are selectively mutated in diffuse large B cell lymphomas

(2013) Noel FCC de Miranda et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

(2013) Pawaree Saisawat et al.   KIDNEY INTERNATIONAL

The N-End Rule Pathway

(2012) Takafumi Tasaki et al.   Annual Review of Biochemistry

Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation ofSDHAin wild-type SDHB-negative gastrointestinal stromal tumors

(2012) Martin G. Belinsky et al.   GENES CHROMOSOMES & CANCER

Human Tribbles 3 Protects Nuclear DNA from Cytidine Deamination by APOBEC3A

(2012) Marie-Ming Aynaud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The zinc-finger domains of PARP1 cooperate to recognize DNA strand breaks

(2012) Ammar A E Ali et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology

(2011) Anthony J. Gill et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

TGF-β2 Signaling in High-Grade Gliomas

(2011) Peter Hau et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53

(2011) Ying Ni et al.   HUMAN MOLECULAR GENETICS

SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

(2011) Esther Korpershoek et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The DNA-Binding Domain of Human PARP-1 Interacts with DNA Single-Strand Breaks as a Monomer through Its Second Zinc Finger

(2011) Sebastian Eustermann et al.   JOURNAL OF MOLECULAR BIOLOGY

International Cancer Genome Consortium Data Portal--a one-stop shop for cancer genomics data

(2011) J. Zhang et al.   Database-The Journal of Biological Databases and Curation

T-cell immunotherapy for malignant glioma: toward a combined approach

(2010) Pierre-Yves Dietrich et al.   CURRENT OPINION IN ONCOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Family History and Risk of Renal Cell Carcinoma: Results from a Case-Control Study and Systematic Meta-Analysis

(2009) J. Clague et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION