Literature DB >> 11062460

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

S Niemann1, U Müller.   

Abstract

Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest-derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance.

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Year:  2000        PMID： 11062460     DOI： 10.1038/81551

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  266 in total

1.  A knowledge framework for computational molecular-disease relationships in cancer.

Authors:  Michael N Cantor; Yves A Lussier
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2.  Integrative epigenomic and genomic analysis of malignant pheochromocytoma.

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Journal:  Exp Mol Med       Date:  2010-07-31       Impact factor: 8.718

3.  Tumor strengths and frailties: Cancer SUMmOns Otto's metabolism.

Authors:  Michael Ohh
Journal:  Nat Med       Date:  2012-01-06       Impact factor: 53.440

4.  Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

Authors:  Joanne Ngeow; Jessica Mester; Lisa A Rybicki; Ying Ni; Mira Milas; Charis Eng
Journal:  J Clin Endocrinol Metab       Date:  2011-09-28       Impact factor: 5.958

5.  Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.

Authors:  Johan Kugelberg; Jenny Welander; Francesca Schiavi; Ambrogio Fassina; Martin Bäckdahl; Catharina Larsson; Giuseppe Opocher; Peter Söderkvist; Patricia L Dahia; Hartmut P H Neumann; Oliver Gimm
Journal:  World J Surg       Date:  2014-03       Impact factor: 3.352

Review 6.  New Insights into the Nuclear Imaging Phenotypes of Cluster 1 Pheochromocytoma and Paraganglioma.

Authors:  David Taïeb; Karel Pacak
Journal:  Trends Endocrinol Metab       Date:  2017-08-31       Impact factor: 12.015

7.  Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

Authors:  Monica L Marvin; Carol R Bradford; James C Sisson; Stephen B Gruber
Journal:  Head Neck       Date:  2009-05       Impact factor: 3.147

8.  Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

Authors:  Hans K Ghayee; Bas Havekes; Eleonora P M Corssmit; Graeme Eisenhofer; Stephen R Hammes; Zahid Ahmad; Alexander Tessnow; Ivica Lazúrová; Karen T Adams; Antonio T Fojo; Karel Pacak; Richard J Auchus
Journal:  Endocr Relat Cancer       Date:  2008-12-15       Impact factor: 5.678

Review 9.  The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Authors:  Paraskevi Xekouki; Ana Brennand; Ben Whitelaw; Karel Pacak; Constantine A Stratakis
Journal:  Horm Metab Res       Date:  2018-10-01       Impact factor: 2.936

10.  The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

Authors:  A P Gimenez-Roqueplo; J Favier; P Rustin; J J Mourad; P F Plouin; P Corvol; A Rötig; X Jeunemaitre
Journal:  Am J Hum Genet       Date:  2001-10-16       Impact factor: 11.025
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