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Items: 1 to 20 of 27

1.

Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

Zhu WD, Wang ZY, Chai YC, Wang XW, Chen DY, Wu H.

Eur J Med Genet. 2015 Sep;58(9):433-8. doi: 10.1016/j.ejmg.2015.05.008. Epub 2015 Jun 19.

PMID:
26096992
2.

Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.

Casey R, Garrahy A, Tuthill A, O'Halloran D, Joyce C, Casey MB, O'Shea P, Bell M.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1392-6. doi: 10.1210/jc.2013-4536. Epub 2014 Apr 8.

PMID:
24712571
3.

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

Piccini V, Rapizzi E, Bacca A, Di Trapani G, Pulli R, Giachè V, Zampetti B, Lucci-Cordisco E, Canu L, Corsini E, Faggiano A, Deiana L, Carrara D, Tantardini V, Mariotti S, Ambrosio MR, Zatelli MC, Parenti G, Colao A, Pratesi C, Bernini G, Ercolino T, Mannelli M.

Endocr Relat Cancer. 2012 Apr 10;19(2):149-55. doi: 10.1530/ERC-11-0369. Print 2012 Apr.

4.

SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.

Kunst HP, Rutten MH, de Mönnink JP, Hoefsloot LH, Timmers HJ, Marres HA, Jansen JC, Kremer H, Bayley JP, Cremers CW.

Clin Cancer Res. 2011 Jan 15;17(2):247-54. doi: 10.1158/1078-0432.CCR-10-0420. Epub 2011 Jan 11.

5.

Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism.

Starker LF, Delgado-Verdugo A, Udelsman R, Björklund P, Carling T.

Endocrine. 2010 Dec;38(3):397-401. doi: 10.1007/s12020-010-9399-0. Epub 2010 Oct 23.

PMID:
20972721
6.

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M.

Lancet Oncol. 2010 Apr;11(4):366-72. doi: 10.1016/S1470-2045(10)70007-3. Epub 2010 Jan 11.

PMID:
20071235
7.

Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.

Baysal BE, Farr JE, Rubinstein WS, Galus RA, Johnson KA, Aston CE, Myers EN, Johnson JT, Carrau R, Kirkpatrick SJ, Myssiorek D, Singh D, Saha S, Gollin SM, Evans GA, James MR, Richard CW 3rd.

Am J Hum Genet. 1997 Jan;60(1):121-32.

8.

The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.

Bezawork-Geleta A, Dong L, Rohlena J, Neuzil J.

J Biol Chem. 2016 Oct 7;291(41):21414-21420. Epub 2016 Sep 1.

PMID:
27587393
9.

In-vitro, SDH5-dependent flavinylation of immobilized human respiratory complex II flavoprotein.

Zafreen L, Walker-Kopp N, Huang LS, Berry E.

Arch Biochem Biophys. 2016 Aug 15;604:47-56. doi: 10.1016/j.abb.2016.06.006. Epub 2016 Jun 11.

PMID:
27296776
10.

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

Kugelberg J, Welander J, Schiavi F, Fassina A, Bäckdahl M, Larsson C, Opocher G, Söderkvist P, Dahia PL, Neumann HP, Gimm O.

World J Surg. 2014 Mar;38(3):724-32. doi: 10.1007/s00268-013-2373-2.

PMID:
24322175
11.

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.

Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH.

Hum Genet. 1995 Jan;95(1):56-62.

PMID:
7814027
12.

A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.

Anttila T, Häyry V, Nicoli T, Hagström J, Aittomäki K, Vikatmaa P, Niemelä M, Saarilahti K, Mäkitie A, Bäck LJ.

Eur Arch Otorhinolaryngol. 2015 Aug;272(8):2045-53. doi: 10.1007/s00405-014-3161-9. Epub 2014 Jun 29.

PMID:
24973967
13.

Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.

Bezawork-Geleta A, Saiyed T, Dougan DA, Truscott KN.

FASEB J. 2014 Apr;28(4):1794-804. doi: 10.1096/fj.13-242420. Epub 2014 Jan 10.

14.

Succinate dehydrogenase 5 (SDH5) regulates glycogen synthase kinase 3β-β-catenin-mediated lung cancer metastasis.

Liu J, Gao L, Zhang H, Wang D, Wang M, Zhu J, Pang C, Wang C.

J Biol Chem. 2013 Oct 11;288(41):29965-73. doi: 10.1074/jbc.M113.450106. Epub 2013 Aug 27.

15.

Emerging concepts in the flavinylation of succinate dehydrogenase.

Kim HJ, Winge DR.

Biochim Biophys Acta. 2013 May;1827(5):627-36. doi: 10.1016/j.bbabio.2013.01.012. Epub 2013 Feb 1. Review.

16.

Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.

Baysal BE.

Biochim Biophys Acta. 2013 May;1827(5):573-7. doi: 10.1016/j.bbabio.2012.12.005. Epub 2013 Jan 2. Review.

17.

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J.

Science. 2009 Aug 28;325(5944):1139-42. doi: 10.1126/science.1175689. Epub 2009 Jul 23.

18.

The role of complex II in disease.

Hoekstra AS, Bayley JP.

Biochim Biophys Acta. 2013 May;1827(5):543-51. doi: 10.1016/j.bbabio.2012.11.005. Epub 2012 Nov 20. Review.

19.

Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.

Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, Plouin PF, de Krijger RR, Gimenez-Roqueplo AP, Dinjens WN.

J Clin Endocrinol Metab. 2010 Mar;95(3):1274-8. doi: 10.1210/jc.2009-2170. Epub 2009 Nov 13.

PMID:
19915015
20.

Hereditary Paraganglioma-Pheochromocytoma Syndromes.

Kirmani S, Young WF.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 May 21 [updated 2014 Nov 6].

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