Research map: Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas

Back to the article

Papers in this map

  1. 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 · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
  2. An Integrative RNA Spliceosomic Landscape of Pancreatic Neuroendocrine Tumors Identifies Clinically Relevant Molecular Subgroups · 2026 · Related
  3. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer · Marilyn M. Li · 2016 · 2098 citations · Cited by this paper
  4. A Cauda Equina Neuroendocrine Tumor with Tyrosine Hydroxylase Expression · 2026 · Related
  5. Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors · Mengtao Xiao · 2012 · 1201 citations · Cited by this paper
  6. Histopathological and Molecular Characteristics of Pediatric Adrenocortical Tumors: where Do we Stand? · 2026 · Related
  7. Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations · Patrick J. Pollard · 2005 · 869 citations · Cited by this paper
  8. Prognostic Features in Surgically Resected Well-Differentiated Pancreatic Neuroendocrine Tumors: an Analysis of 904 Patients with 7882 Person-Years of Follow-Up · 2025 · Related
  9. Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America · Jorge R. Toro · 2003 · 634 citations · Cited by this paper
  10. Phenotypic Landscape of Pulmonary Neuroendocrine Tumors: Subtyped by OTP/ASCL1 Expression Correlated with Histology, Hormones and Outcome · 2025 · Related
  11. Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition · Marco Sciacovelli · 2016 · 605 citations · Cited by this paper
  12. Recipient of the 2025 Endocrine Pathology Society Lifetime Achievement Award: Dr. Arthur S. Tischler, M.D. · 2025 · Related
  13. Renal Cyst Formation in Fh1-Deficient Mice Is Independent of the Hif/Phd Pathway: Roles for Fumarate in KEAP1 Succination and Nrf2 Signaling · Julie Adam · 2011 · 589 citations · Cited by this paper
  14. Multi-center Assessment of DLL3 Expression by Immunohistochemistry in Medullary Thyroid Carcinoma · 2025 · Related
  15. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas · Luis Jaime Castro‐Vega · 2013 · 400 citations · Cited by this paper
  16. Clinicopathologic and Molecular Features of Poorly Differentiated Thyroid Carcinomas in Adults ≤ 45 Years of Age · 2026 · Related
  17. Oncometabolites suppress DNA repair by disrupting local chromatin signalling · Parker L. Sulkowski · 2020 · 325 citations · Cited by this paper
  18. A rare coexistence: Ollier disease and primary hyperparathyroidism—mere coincidence or expanding the spectrum of Ollier disease? · 2026 · Related
  19. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency · N.A. Alam · 2003 · 324 citations · Cited by this paper
  20. Overview of the 2022 WHO Classification of Parathyroid Tumors · Lori A. Erickson · 2022 · 287 citations · Cited by this paper
  21. Aberrant succination of proteins in fumarate hydratase‐deficient mice and HLRCC patients is a robust biomarker of mutation status · Chiara Bardella · 2011 · 285 citations · Cited by this paper
  22. Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome–associated Renal Cancer · Ying‐Bei Chen · 2014 · 279 citations · Cited by this paper
  23. Fumarate Hydratase–deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome · Kiril Trpkov · 2016 · 261 citations · Cited by this paper
  24. Increased risk of cancer in patients with fumarate hydratase germline mutation · H J Lehtonen · 2005 · 227 citations · Cited by this paper
  25. Fumarase: A Mitochondrial Metabolic Enzyme and a Cytosolic/Nuclear Component of the DNA Damage Response · Ohad Yogev · 2010 · 225 citations · Cited by this paper
  26. Selective Localization of the Parathyroid Secretory Protein-I/Adrenal Medulla Chromogranin A Protein Family in a Wide Variety of Endocrine Cells of the Rat* · David V. Cohn · 1984 · 219 citations · Cited by this paper
  27. Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism · Salvatore Minisola · 2020 · 209 citations · Cited by this paper
  28. S-(2-Succinyl)cysteine: A novel chemical modification of tissue proteins by a Krebs cycle intermediate · Nathan L. Alderson · 2006 · 208 citations · Cited by this paper
  29. NEUROENDOCRINE EMBRYOLOGY AND THE APUD CONCEPT · A. G. E. Pearse · 1976 · 186 citations · Cited by this paper
  30. Targeted Inactivation of Fh1 Causes Proliferative Renal Cyst Development and Activation of the Hypoxia Pathway · Patrick J. Pollard · 2007 · 182 citations · Cited by this paper
  31. Similarity of secretory protein I from parathyroid gland to chromogranin A from adrenal medulla. · David V. Cohn · 1982 · 173 citations · Cited by this paper
  32. Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci · Steven Christopher Smith · 2016 · 149 citations · Cited by this paper
  33. Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas · Paul J. Newey · 2012 · 146 citations · Cited by this paper
  34. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma · Betty Gardie · 2011 · 145 citations · Cited by this paper
  35. Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients · Nancy M. Joseph · 2015 · 131 citations · Cited by this paper
  36. A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients · Hubert D. Lau · 2019 · 130 citations · Cited by this paper
  37. Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration · Marie F. Muller · 2018 · 107 citations · Cited by this paper
  38. The Gata3 Transcription Factor Is Required for the Survival of Embryonic and Adult Sympathetic Neurons · Konstantina Tsarovina · 2010 · 94 citations · Cited by this paper
  39. Comprehensive Molecular Characterization and Response to Therapy in Fumarate Hydratase–Deficient Renal Cell Carcinoma · Jack Patrick Gleeson · 2021 · 91 citations · Cited by this paper

Source: OpenAlex (CC0)