PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

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Items 101–200 of 324

1. JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management
   Naseema Gangat, Natasha Szuber, Ayalew Tefferi · 2023 · American Journal of Hematology
2. Diagnosis and management of pheochromocytoma
   Richard A. Hodin, Carrie Cunningham Lubitz, Roy Phitayakorn, Antonia E. Stephen · 2014 · Current Problems in Surgery
3. Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility
   Dewi Astuti, Christopher J. Ricketts, Rasheduzzaman Chowdhury, M.A. McDonough, Dean Gentle, Gail A. Kirby, Susanne Schlisio, Rajappa S. Kenchappa, B. D. Carter, William G. Kaelin et al. · 2010 · Endocrine Related Cancer
4. Precision medicine in pheochromocytoma and paraganglioma: current and future concepts
   Peyman Björklund, Karel Pacák, Joakim Crona · 2016 · Journal of Internal Medicine
5. An update on the genetics of pheochromocytoma
   David Karásek, Urvi Ashok Shah, Zdeněk Fryšák, Constantine A. Stratakis, Karel Pacák · 2012 · Journal of Human Hypertension
6. Investigating the contribution of the active site environment to the slow reaction of hypoxia-inducible factor prolyl hydroxylase domain 2 with oxygen
   Hanna Tarhonskaya, Rasheduzzaman Chowdhury, Ivanhoe K. H. Leung, Nikita D. Loik, James McCullagh, Timothy D. W. Claridge, Christopher John Schofield, Emily Flashman · 2014 · Biochemical Journal
7. A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism
   Patrick R. Arsenault, Fei Pei, Rebecca Lee, Heddy Kerestes, Melanie J. Percy, Brian Keith, Marie Celeste Simon, Terence R.J. Lappin, Tejvir S. Khurana, Frank S. Lee · 2013 · Journal of Biological Chemistry
8. Progress in tumor vascular normalization for anticancer therapy: challenges and perspectives
   Bingxue Shang, Zhifei Cao, Quansheng Zhou · 2012 · Frontiers of Medicine
9. Usefulness of Negative and Weak–Diffuse Pattern of SDHB Immunostaining in Assessment of SDH Mutations in Paragangliomas and Pheochromocytomas
   Esmeralda Castelblanco, Marı́a Santacana, Joan Valls, Aguirre De Cubas, Alberto Cascón, Mercedes Robledo, Xavier Matías‐Guiu · 2013 · Endocrine Pathology
10. Advances in understanding the pathogenesis of primary familial and congenital polycythaemia
    Lily Jun-shen Huang, Yu-Min P. Shen, Gamze Betul Bulut · 2010 · British Journal of Haematology
11. Molecular and Therapeutic Advances in the Diagnosis and Management of Malignant Pheochromocytomas and Paragangliomas
    Aoïfe Lowery, Siun M. Walsh, Enda W.M. McDermott, Ruth S. Prichard · 2013 · The Oncologist
12. Pheochromocytomas and Paragangliomas: New Developments with Regard to Classification, Genetics, and Cell of Origin
    Karen Koopman, José Gaal, Ronald R. de Krijger · 2019 · Cancers
13. The role of PHD2 mutations in the pathogenesis of erythrocytosis
    Betty Gardie, Melanie J. Percy, David Hoogewijs, Rasheduzzaman Chowdhury, Celeste Bento, Mary Frances McMullin, Christopher John Schofield, Frank S. Lee, Stephane Richard, Patrick R. Arsenault et al. · 2014 · Hypoxia
14. Immunohistochemical markers of the hypoxic response can identify malignancy in phaeochromocytomas and paragangliomas and optimize the detection of tumours with VHL germline mutations
    David James Pinato, Radha Ramachandran, S T K Toussi, Marco Vergine, N Ngo, Rohini Sharma, Tyler Lloyd, Karim M. Meeran, Fausto F Palazzo, N Martin et al. · 2012 · British Journal of Cancer
15. Erythropoietin
    Roland H. Wenger, Armin Kurtz · 2011 · Comprehensive physiology
16. Familial pheochromocytomas and paragangliomas
    Kathryn S. King, Karel Pacák · 2013 · Molecular and Cellular Endocrinology
17. HIF Signaling Pathway in Pheochromocytoma and Other Neuroendocrine Tumors
    Ivana Jochmanová, Tomáš Zelinka, Jiri Widimsky Jr., Karel Pacák · 2014 · Physiological Research
18. Investigation and Management of Erythrocytosis
    Mary Frances McMullin · 2016 · Current Hematologic Malignancy Reports
19. Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes
    Ingo Janssen, Clara C. Chen, Zhenping Zhuang, Corina Millo, Katherine I. Wolf, Alexander Lee Ling, Frank I. Lin, Karen T. Adams, Peter Herscovitch, Richard Abraham Feelders et al. · 2017 · Journal of Nuclear Medicine
20. Identification of a novel recurrent 1q42.2‐1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
    Annelies Fieuw, Candy Kumps, Alexander R. Schramm, Filip Pattyn, Björn Menten, Francesca Antonacci, Peter H. Sudmant, Johannes Hubertus Schulte, Nadine Van Roy, Sarah Vergult et al. · 2011 · International Journal of Cancer
21. The Genetic Basis of Pheochromocytoma and Paraganglioma: Implications for Management
    Brian M. Shuch, Christopher J. Ricketts, Adam R. Metwalli, Karel Pacák, William Marston Linehan · 2014 · Urology
22. HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease
    Daniel Tarade, Claire M. Robinson, Jeffrey E. Lee, Michael Ohh · 2018 · Nature Communications
23. Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes
    Mariola Pęczkowska, Aldona Kowalska, Jacek Sygut, Dariusz Waligórski, Angelica Malinoc, Hanna Janaszek−Sitkowska, Aleksander Prejbisz, Andrzej Januszewicz, Hartmut P.H. Neumann · 2013 · Clinical Endocrinology
24. Paragangliomas: Update on differential diagnostic considerations, composite tumors, and recent genetic developments
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25. Minireview: The Busy Road to Pheochromocytomas and Paragangliomas Has a New Member, TMEM127
    Shoulei Jiang, Patricia L. M. Dahia · 2011 · Endocrinology
26. Molecular markers of paragangliomas/pheochromocytomas
    Svetlana O. Zhikrivetskaya, Anastasiya V. Snezhkina, Andrew R. Zaretsky, B. Yа. Alekseev, Anatoly V. Pokrovsky, Alexander Leonidovich Golovyuk, Nataliya V. Melnikova, Oleg A. Stepanov, Dmitry Valerievich Kalinin, Alexey Moskalev et al. · 2017 · Oncotarget
27. The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma
    Peng Song, Jun Zhang, Xintao Tan, Yiqiang Huang, Jing Xu, Natalie Silk, Dianzheng Zhang, Qiuli Liu, Jun Jiang · 2020 · Frontiers in Endocrinology
28. Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia
    Julianty Frost, Mark G. Frost, Michael Batie, Hao Jiang, Sónia Rocha · 2021 · Cancers
29. Updates on Hypoxia-Inducible Factor Prolyl Hydroxylase Inhibitors in the Treatment of Renal Anemia
    Jing Li, Volker H. Haase, Chuan‐Ming Hao · 2022 · Kidney Diseases
30. Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines
    Svenja Nölting, Edwin García, Ghassan Alusi, Alessio Giubellino, Karel Pacák, Márta Korbonits, Ashley Barry Grossman · 2012 · Journal of Molecular Endocrinology
31. Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata
    Michael Ohh, Cassandra Carol Taber, Fraser G. Ferens, Daniel Tarade · 2022 · eLife
32. New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas
    Rodrigo Almeida Toledo · 2017 · Endocrine Related Cancer
33. Genetics of pheochromocytoma and paraganglioma
    Heather Wachtel, Lauren Michelle Fishbein · 2021 · Current Opinion in Endocrinology Diabetes and Obesity
34. Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    Reshma Pandit, Kranti Shreesh Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Manjunath Goroshi, Shruti Khare, Sandhya V. G. Nair, Vijaya Raghavan, Abhay N. Dalvi, Priya Hira et al. · 2016 · European Journal of Endocrinology
35. Integrative Genetic Characterization and Phenotype Correlations in Pheochromocytoma and Paraganglioma Tumours
    Joakim Crona, Margareta Nordling, Rajani Maharjan, Donald O. Granberg, Peter L. H. Stalberg, Per Hellman, Peyman Björklund · 2014 · PLoS ONE
36. New Insights into the Nuclear Imaging Phenotypes of Cluster 1 Pheochromocytoma and Paraganglioma
    David Taïeb, Karel Pacák · 2017 · Trends in Endocrinology and Metabolism
37. Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis
    Sophie Couvé, Charline Ladroue, Élodie Laine, Karène Mahtouk, Justine Guégan, Sophie Gad, Hélène Le Jeune, Marion Le Gentil, Grégory Nuel, William Y. Kim et al. · 2014 · Cancer Research
38. Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas
    Aideen M McInerney-Leo, Mhairi S. Marshall, Brooke Gardiner, Diana E. Benn, Janelle McFarlane, Bruce G. Robinson, Matthew Arthur Brown, Paul J. Leo, Roderick John Clifton-Bligh, Emma L. Duncan · 2013 · Clinical Endocrinology
39. Metabolic Drivers in Hereditary Cancer Syndromes
    Marco Sciacovelli, Christina Schmidt, Eamonn Richard Maher, Christian Frezza · 2019 · Annual Review of Cancer Biology
40. Chronic hypoxia leads to a glycolytic phenotype and suppressed HIF-2 signaling in PC12 cells
    Alexander V. Zhdanov, Ruslan I. Dmitriev, Anna V. Golubeva, Svetlana Anatol'evna Gavrilova, Dmitri B. Papkovsky · 2013 · Biochimica et Biophysica Acta (BBA) - General Subjects
41. Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma
    Aleš Vícha, David Taïeb, Karel Pacák · 2014 · Endocrine Related Cancer
42. Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine
    Ruth Therese Casey, Hartmut P.H. Neumann, Eamonn Richard Maher · 2020 · Human Molecular Genetics
43. Breakthrough science: hypoxia-inducible factors, oxygen sensing, and disorders of hematopoiesis
    Gregg L. Semenza · 2021 · Blood
44. Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl
    Maya Beth Lodish, Karen T. Adams, Thanh T Huynh, Tamara Prodanov, Alexander Lee Ling, Clara C. Chen, Suzanne Shusterman, Camilo Jiménez, Maria J. Merino, Marybeth S. Hughes et al. · 2010 · Endocrine Related Cancer
45. A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas
    Anasuya Guha, Zdeněk Musil, Aleš Vícha, Tomáš Zelinka, Karel Pacák, Jaromı́r Astl, Martin Chovanec · 2019 · Neoplasma
46. Recent advances in the biology of tumour hypoxia with relevance to diagnostic practice and tissue‐based research
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47. The PHD1 oxygen sensor in health and disease
    Kilian B. Kennel, Julius Burmeister, Martin A. Schneider, Cormac T. Taylor · 2018 · The Journal of Physiology
48. Neuronal apoptosis by prolyl hydroxylation: implication in nervous system tumours and the Warburg conundrum
    Susanne Schlisio · 2009 · Journal of Cellular and Molecular Medicine
49. Usefulness of S uccinate dehydrogenase B ( SDHB ) immunohistochemistry in guiding mutational screening among patients with pheochromocytoma‐paraganglioma syndromes
    Rekha B. Pai, Marie Therese Manipadam, Pradyumn Singh, Andrew Ebenazer, Prasanna Samuel, Simon Rajaratnam · 2014 · Apmis
50. Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    Reshma Pandit, Kranti Shreesh Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Manjunath Goroshi, Shruti Khare, Sandhya V. G. Nair, Vijaya Raghavan, Abhay N. Dalvi, Priya Hira et al. · 2016 · European Journal of Endocrinology
51. EXPRESSION OF CONCERN: Prolyl hydroxylase‐2 ( PHD2 ) exerts tumor‐suppressive activity in pancreatic cancer
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52. Prevalence of Germline Mutations in Patients with Pheochromocytoma or Abdominal Paraganglioma and Sporadic Presentation: A Population‐Based Study in Western Sweden
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53. Pheochromocytoma: a changing perspective and current concepts
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54. Polycythemia and Paraganglioma With a Novel Somatic HIF2A Mutation in a Male
    Hidemi Toyoda, Jyunya Hirayama, Yuka Sugimoto, Keiichi Uchida, Kohshi Ohishi, Masahiro Hirayama, Yoshihiro Komada · 2014 · PEDIATRICS
55. Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene
    Albiero, E., Ruggeri, M., Fortuna, S., Finotto, S., Bernardi, M., Madeo, D., Rodeghiero, F. · 2012 · Haematologica
56. Pheochromocytoma: Gasping for Air
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57. Prolyl hydroxylase mediated inhibition of fatty acid synthase to combat tumor growth in mammary gland carcinoma
    Manjari Singh, Uma Devi, Subhadeep Roy, Pushpraj S Gupta, Shubhini Awasthi Saraf, Gaurav Kaithwas · 2016 · Breast Cancer
58. Therapeutic inhibition of prolyl hydroxylase domain-containing enzymes in surgery: putative applications and challenges
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59. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
    Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S. Plomp, Reginald E. Bittner, Mitja Kurki, Outi Kuismin et al. · 2019 · Genetics in Medicine
60. Loss of mitochondria in ganglioneuromas
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61. Endocrine hypertension — Current understanding and comprehensive management review
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62. Genetic testing in the clinical care of patients with pheochromocytoma and paraganglioma
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63. HIF pathway mutations and erythrocytosis
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64. Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas
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65. Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1
    Laura Gieldon, Jimmy Rusdian Masjkur, Susan Richter, Roland Därr, Marcos Lahera, Daniela Ellen Aust, Silke Zeugner, Andreas Rump, Karl Hackmann, Andreas Tzschach et al. · 2017 · European Journal of Endocrinology
66. MicroRNAs, Long Non-Coding RNAs, and Circular RNAs: Potential Biomarkers and Therapeutic Targets in Pheochromocytoma/Paraganglioma
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67. Pheochromocytoma: implications in tumorigenesis and the actual management.
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68. Emerging role of dopamine in neovascularization of pheochromocytoma and paraganglioma
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69. TP0463518, a Novel Prolyl Hydroxylase Inhibitor, Specifically Induces Erythropoietin Production in the Liver
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70. Erythrocytosis and polycythemia
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71. HIF Prolyl-4-hydroxylase Interacting Proteins: Consequences for Drug Targeting
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72. Deletion of prolyl hydroxylase domain-containing enzyme 3 (phd3) in zebrafish facilitates hypoxia tolerance
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73. Hereditary erythrocytosis, thrombocytosis and neutrophilia
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74. Prolyl hydroxylase domain protein 3 targets Pax2 for destruction
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75. Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas
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76. Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis
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77. Immunohistochemical expression of stem cell markers in pheochromocytomas/paragangliomas is associated with SDHx mutations
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78. Nonmosaic somatic HIF2A mutations associated with late onset polycythemia‐paraganglioma syndrome: Newly recognized subclass of polycythemia‐paraganglioma syndrome
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79. Diagnostic workflow for hereditary erythrocytosis and thrombocytosis
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80. Hematologic Aspects of Kidney Disease
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81. The clinical genetics of phaeochromocytoma and paraganglioma
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82. Congenital erythrocytosis
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83. Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis
    Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt, Céline Garrec, Nada Maaziz, Matti Myllykoski, Antoine Rimbert, Valéna Karaghiannis, Bernard Aral et al. · 2023 · Haematologica
84. Integrity of the prolyl hydroxylase domain protein 2:erythropoietin pathway in aging mice
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85. Pheochromocytomas and Paragangliomas
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86. A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report
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87. Genetic Background of Congenital Erythrocytosis
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88. Insights into the proline hydroxylase (PHD) family, molecular evolution and its impact on human health
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89. Novel compound VHL heterozygosity ( VHL T124A/L188V) associated with congenital polycythaemia
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90. Loss of Phd2 cooperates with BRAFV600E to drive melanomagenesis
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91. The connection between tricarboxylic acid cycle enzyme mutations and pseudohypoxic signaling in pheochromocytoma and paraganglioma
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92. Developmental role of PHD2 in the pathogenesis of pseudohypoxic pheochromocytoma
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93. SDHB and SDHD silenced pheochromocytoma spheroids respond differently to tumour microenvironment and their aggressiveness is inhibited by impairing stroma metabolism
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94. Genetics, Diagnosis, and Management of Medullary Thyroid Carcinoma and Pheochromocytoma/Paraganglioma
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95. Functional Consequences of Succinate Dehydrogenase Mutations
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96. Novel Genes Associated with the Development of Carotid Paragangliomas
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97. Low expression of prolyl hydroxylase 2 is associated with tumor grade and poor prognosis in patients with colorectal cancer
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98. Congenital erythrocytosis
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99. Novel Hereditary Forms of Pheochromocytomas and Paragangliomas
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100. Hypoxia signaling pathway: A central mediator in endocrine tumors
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