SDHD

Summary

Gene Symbol: SDHD
Description: succinate dehydrogenase complex subunit D
Alias: CBT1, CII-4, CWS3, PGL, PGL1, QPs3, SDH4, cybS, succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial, succinate dehydrogenase complex subunit D integral membrane protein, succinate-ubiquinone oxidoreductase cytochrome b small subunit, succinate-ubiquinone reductase membrane anchor subunit
Species: human
Products:     SDHD

Top Publications

  1. Riemann K, Sotlar K, Kupka S, Braun S, Zenner H, Preyer S, et al. Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. Cancer Genet Cytogenet. 2004;150:128-35 pubmed
    ..In addition, loss of heterozygosity (LOH) on chromosome 11, mainly in 11q23 (PGL1), was observed recently...
  2. Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K. Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase. Biochim Biophys Acta. 1999;1412:295-300 pubmed
    We have mapped large (cybL) and small (cybS) subunits of cytochrome b in the succinate-ubiquinone oxidoreductase (complex II) of human mitochondria to chromosome 1q21 and 11q23, respectively (H. Hirawake et al., Cytogenet. Cell Genet...
  3. Neumann H, Pawlu C, Peczkowska M, Bausch B, McWhinney S, Muresan M, et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA. 2004;292:943-51 pubmed
    Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively...
  4. Cascon A, Cebrian A, Pollan M, Ruiz Llorente S, Montero Conde C, Leton R, et al. Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab. 2005;90:2127-30 pubmed
    ..First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease...
  5. Cascon A, Pita G, Burnichon N, Landa I, López Jiménez E, Montero Conde C, et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab. 2009;94:1701-5 pubmed publisher
    ..thirty-seven nonrelated probands were analyzed for the major susceptibility genes: VHL, RET, SDHB, SDHC, and SDHD. Genetic characterization included both point mutation analysis and gross deletions in the SDH genes performed by ..
  6. Yeap P, Tobias E, Mavraki E, Fletcher A, Bradshaw N, Freel E, et al. Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. J Clin Endocrinol Metab. 2011;96:E2009-13 pubmed publisher
    Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations...
  7. Yu W, He X, Ni Y, Ngeow J, Eng C. Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation. Hum Mol Genet. 2015;24:142-53 pubmed publisher
    ..mutations in the PTEN tumor-suppressor gene and germline variations in succinate dehydrogenase subunit D gene (SDHD-G12S, SDHD-H50R) are associated with a subset of Cowden syndrome and Cowden syndrome-like individuals (CS/CSL) and ..
  8. Taschner P, Jansen J, Baysal B, Bosch A, Rosenberg E, Bröcker Vriends A, et al. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer. 2001;31:274-81 pubmed
    ..Recently, we have identified the SDHD gene encoding subunit D of the mitochondrial respiratory chain complex II as one of the genes involved in ..
  9. Gimenez Roqueplo A, Favier J, Rustin P, Mourad J, Plouin P, Corvol P, et al. 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. Am J Hum Genet. 2001;69:1186-97 pubmed
    ..Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial ..

More Information

Publications103 found, 100 shown here

  1. Baysal B, Willett Brozick J, Lawrence E, Drovdlic C, Savul S, McLeod D, et al. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet. 2002;39:178-83 pubmed
    ..Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL)...
  2. Lima J, Teixeira Gomes J, Soares P, Máximo V, Honavar M, Williams D, et al. Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia. J Clin Endocrinol Metab. 2003;88:4932-7 pubmed
    ..We investigated the possible involvement of the SDHD gene, because somatic and germline mutations in this gene have been found in a variety of tumors of neural crest-..
  3. Hensen E, Jordanova E, van Minderhout I, Hogendoorn P, Taschner P, van der Mey A, et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene. 2004;23:4076-83 pubmed
    Germline mutations in succinate dehydrogenase subunits B, C and D (SDHB, SDHC and SDHD), genes encoding subunits of mitochondrial complex II, cause hereditary paragangliomas and phaeochromocytomas...
  4. Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac de Paillerets B, Chabre O, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol. 2005;23:8812-8 pubmed
    ..Clinical data and blood samples were collected, and all five major pheo-pgl susceptibility genes (RET, VHL, SDHB, SDHD, and SDHC) were screened. Neurofibromatosis type 1 was diagnosed from phenotypic criteria...
  5. Montani M, Schmitt A, Schmid S, Locher T, Saremaslani P, Heitz P, et al. No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. Endocr Relat Cancer. 2005;12:1011-6 pubmed
    Germline mutations of the three succinate dehydrogenase subunits SDHB, SDHC and SDHD have recently been associated with familial pheochromocytoma and paraganglioma...
  6. Korpershoek E, Van Nederveen F, Dannenberg H, Petri B, Komminoth P, Perren A, et al. Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. Ann N Y Acad Sci. 2006;1073:138-48 pubmed
    ..VHL gene), neurofibromatosis Type 1 (NF1 gene), or familial pheochromocytoma-paraganglioma (PCC-PGL) syndrome (SDHD/B and C genes)...
  7. Ni Y, Zbuk K, Sadler T, Patocs A, Lobo G, Edelman E, et al. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008;83:261-8 pubmed publisher
    ..One to five percent of SDHB/SDHD mutation carriers have renal cell or papillary thyroid carcinomas, which are also CS-related features...
  8. Meyer Rochow G, Smith J, Richardson A, Marsh D, Sidhu S, Robinson B, et al. Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. J Surg Res. 2009;157:55-62 pubmed publisher
    ..Type 1, and the pheochromocytoma/paraganglioma syndromes caused by mutations in the RET, VHL, NF1, SDHB, and SDHD genes, respectively...
  9. Baysal B, McKay S, Kim Y, Zhang Z, Alila L, Willett Brozick J, et al. Genomic imprinting at a boundary element flanking the SDHD locus. Hum Mol Genet. 2011;20:4452-61 pubmed publisher
    Germline mutations in SDHD, a mitochondrial complex II (succinate dehydrogenase) subunit gene at chromosome band 11q23, cause highly penetrant paraganglioma (PGL) tumors when transmitted through fathers...
  10. Baysal B, Ferrell R, Willett Brozick J, Lawrence E, Myssiorek D, Bosch A, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287:848-51 pubmed
    ..Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23...
  11. Neumann H, Bausch B, McWhinney S, Bender B, Gimm O, Franke G, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346:1459-66 pubmed
    ..von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispose carriers to pheochromocytomas and glomus tumors...
  12. McWhinney S, Pilarski R, Forrester S, Schneider M, Sarquis M, Dias E, et al. Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. J Clin Endocrinol Metab. 2004;89:5694-9 pubmed
    ..Germline mutations in RET; VHL; and SDHB, SDHC, and SDHD are associated with multiple endocrine neoplasia type 2, VHL, and PC/PGL, respectively...
  13. Pigny P, Vincent A, Cardot Bauters C, Bertrand M, de Montpreville V, Crepin M, et al. Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. J Clin Endocrinol Metab. 2008;93:1609-15 pubmed publisher
    Inactivating mutations of SDHD, which is mapped to 11q23 and encodes the cybS subunit of succinate dehydrogenase, predispose to hereditary paraganglioma (PGL) and/or pheochromocytoma...
  14. Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, et al. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab. 2009;94:1541-7 pubmed publisher
    ..Germ-line mutations in known susceptibility genes were investigated by gene sequencing (VHL, RET, SDHB, SDHC, SDHD) or diagnosed according to phenotype (NF1)...
  15. Waldmann J, Langer P, Habbe N, Fendrich V, Ramaswamy A, Rothmund M, et al. Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas. Endocrine. 2009;35:347-55 pubmed publisher
    The prevalence of germ line mutations within the RET-protooncogene and the tumor suppressor genes SDHB, SDHD, and VHL in pheochromocytomas (PC) varies in recent studies from 12 to 24%, if one look at them collectively...
  16. Schaefer I, Hornick J, Bovee J. The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms. Lab Invest. 2018;98:414-426 pubmed publisher
    ..SDH deficiency may result from germline SDHA, SDHB, SDHC, or SDHD mutations and is found in autosomal-dominant familial paraganglioma/pheochromocytoma and Carney-Stratakis syndrome, ..
  17. Lin B, Yang H, Yang H, Shen S. Bilateral malignant paragangliomas in a patient: a rare case report. World Neurosurg. 2019;: pubmed publisher
    ..have shown that familial paragangliomas are associated with germline mutation of succinate dehydrogenase subunits SDHD on 11q23...
  18. Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis S, et al. Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab. 2015;100:E710-9 pubmed publisher
    ..We described a GH-secreting pituitary adenoma (PA) caused by SDHD mutation in a patient with familial PGLs. Additional patients with PAs and SDHx defects have since been reported...
  19. van Berkel A, Rao J, Lenders J, Pellegata N, Kusters B, Piscaer I, et al. Semiquantitative 123I-Metaiodobenzylguanidine Scintigraphy to Distinguish Pheochromocytoma and Paraganglioma from Physiologic Adrenal Uptake and Its Correlation with Genotype-Dependent Expression of Catecholamine Transporters. J Nucl Med. 2015;56:839-46 pubmed publisher
    ..Sixty-two PPGLs collected from 57 patients with hereditary mutations in SDHA (n = 1), SDHB (n = 2), and SDHD (n = 4) (SDH is succinate dehydrogenase); von Hippel-Lindau (VHL; n = 2); RET (n = 12); neurofibromin 1 (NF1; n = 2)..
  20. Sharma S, Wang J, Cortes Gomez E, TAGGART R, Baysal B. Mitochondrial complex II regulates a distinct oxygen sensing mechanism in monocytes. Hum Mol Genet. 2017;26:1328-1339 pubmed publisher
    ..Accordingly, compound germline heterozygosity of mouse Sdhb/Sdhc/Sdhd null alleles blunts chronic hypoxia-induced increases in hemoglobin levels, an adaptive response mainly regulated ..
  21. Pasini B, Stratakis C. SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med. 2009;266:19-42 pubmed publisher
    ..by germline mutations in three genes encoding subunits of the succinate dehydrogenase (SDH) enzyme (SDHB, SDHC and SDHD) thus opening an unexpected connection between mitochondrial tumour suppressor genes and neural crest-derived ..
  22. Jha A, Ling A, Millo C, Gupta G, Viana B, Lin F, et al. Superiority of 68Ga-DOTATATE over 18F-FDG and anatomic imaging in the detection of succinate dehydrogenase mutation (SDHx )-related pheochromocytoma and paraganglioma in the pediatric population. Eur J Nucl Med Mol Imaging. 2018;45:787-797 pubmed publisher
    ..Nine pediatric patients (5:4, girls:boys; 14.6 ± 2.0 years) with an SDHx-related mutation (SDHB:SDHA:SDHD, n = 7:1:1) were included in this retrospective study...
  23. Sulkowski P, Sundaram R, Oeck S, Corso C, Liu Y, Noorbakhsh S, et al. Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. Nat Genet. 2018;50:1086-1092 pubmed publisher
    ..renal cell cancer (HLRCC) and succinate dehydrogenase-related hereditary paraganglioma and pheochromocytoma (SDH PGL/PCC) are linked to germline loss-of-function mutations in genes encoding the Krebs cycle enzymes fumarate hydratase ..
  24. Her Y, Nelson Holte M, MAHER L. Oxygen concentration controls epigenetic effects in models of familial paraganglioma. PLoS ONE. 2015;10:e0127471 pubmed publisher
    Familial paraganglioma (PGL) is a rare neuroendocrine cancer associated with defects in the genes encoding the subunits of succinate dehydrogenase (SDH), a tricarboxylic acid (TCA) cycle enzyme...
  25. Diao X, Guan H, Zhao X, Chen Q, Kong B. Properties and oxidative stability of emulsions prepared with myofibrillar protein and lard diacylglycerols. Meat Sci. 2016;115:16-23 pubmed publisher
    ..proteins (MPs) and different lipids, including lard, glycerolized lard (GL) and purified glycerolized lard (PGL)...
  26. Santi R, Rapizzi E, Canu L, Ercolino T, Baroni G, Fucci R, et al. Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation. Anticancer Res. 2017;37:805-812 pubmed
    ..SDHA and SDHB immunostaining was performed in 13 SDH gene-mutated tumours (SDHB: n=3; SDHC: n=1; SDHD: n=9) and 16 wild-type tumours...
  27. Heutink P, van der Mey A, Sandkuijl L, van Gils A, Bardoel A, Breedveld G, et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet. 1992;1:7-10 pubmed
    ..0 at a recombination fraction theta = 0.0. Likelihood calculations yielded an odds ratio of 2.7 x 10(6) in favor of genomic imprinting versus the absence of genomic imprinting. ..
  28. Isobe K, Minowada S, Tatsuno I, Suzukawa K, Nissato S, Nanmoku T, et al. Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas. Horm Res. 2007;68:68-71 pubmed
    The SDHA, SDHB, SDHC, and SDHD genes code for subunits of succinate dehydrogenase (SDH), which forms part of the mitochondrial respiratory chain...
  29. Timmers H, Pacak K, Bertherat J, Lenders J, Duet M, Eisenhofer G, et al. Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. Clin Endocrinol (Oxf). 2008;68:561-6 pubmed
    ..mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential...
  30. van Gisbergen M, Voets A, Starmans M, de Coo I, Yadak R, Hoffmann R, et al. How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models. Mutat Res Rev Mutat Res. 2015;764:16-30 pubmed publisher
    ..g. succinate dehydrogenase (SDHB, SDHC and SDHD genes) and iso-citrate dehydrogenase (IDH1 and IDH2 genes)...
  31. Pinho J, Rivas P, Mendes M, Soares R, Costa G, Nascimento F, et al. Presence of Mycobacterium leprae DNA and PGL-1 antigen in household contacts of leprosy patients from a hyperendemic area in Brazil. Genet Mol Res. 2015;14:14479-87 pubmed publisher
    ..the percentage of contacts with positive indices for Mycobacterium leprae DNA and phenol-glycolipid-1 antigen (PGL-1)...
  32. Hoekstra A, Hensen E, Jordanova E, Korpershoek E, van der Horst Schrivers A, Cornelisse C, et al. Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas. Oncotarget. 2017;8:14525-14536 pubmed publisher
    Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma...
  33. Comino Mendez I, Tejera A, Currás Freixes M, Remacha L, Gonzalvo P, Tonda R, et al. ATRX driver mutation in a composite malignant pheochromocytoma. Cancer Genet. 2016;209:272-7 pubmed publisher
    ..sequencing to the germline and tumor DNA of a patient with metastatic composite PCC and no alterations in known PCC/PGL susceptibility genes. A somatic loss-of-function mutation affecting ATRX was identified in tumor DNA...
  34. Kedia R, Hansen N, Goldner W. Nuclear Imaging in Metastatic Paraganglioma. J Nucl Med Technol. 2016;44:251-252 pubmed
    Paragangliomas associated with mutations of the SDHD gene can occasionally result in distant metastasis. Diagnosis can be difficult, and nuclear imaging is used to evaluate the case further...
  35. Ran G, Tan D, Dai W, Zhu X, Zhao J, Ma Q, et al. Immobilization of alkaline polygalacturonate lyase from Bacillus subtilis on the surface of bacterial polyhydroxyalkanoate nano-granules. Appl Microbiol Biotechnol. 2017;101:3247-3258 pubmed publisher
    Alkaline polygalacturonate lyase (PGL), one of the pectinolytic enzymes, has been widely used for the bioscouring of cotton fibers, biodegumming, and biopulp production...
  36. Dhir M, Li W, Hogg M, Bartlett D, Carty S, McCoy K, et al. Clinical Predictors of Malignancy in Patients with Pheochromocytoma and Paraganglioma. Ann Surg Oncol. 2017;24:3624-3630 pubmed publisher
    ..with malignancy in patients with pheochromocytoma (adrenal tumors, Pheo) and paraganglioma (extra-adrenal, PGL) are not well-defined and all patients require lifelong surveillance...
  37. Ferrara A, Lombardi G, Pambuku A, Meringolo D, Bertorelle R, Nardin M, et al. Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma. Anticancer Drugs. 2017;: pubmed publisher
    ..Case 2 is a 54-year-old woman with a PCC/PGL syndrome caused by a mutation in MAX gene (c...
  38. Pang Y, Gupta G, Yang C, Wang H, Huynh T, Abdullaev Z, et al. A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report. BMC Cancer. 2018;18:286 pubmed publisher
    ..In patients diagnosed with PHEO/PGL and polycythemia with negative genetic testing for mutations in HIF2A, PHD1/2, and VHL, IRP1 should be considered ..
  39. Oishi Y, Nagai S, Yoshida M, Fujisawa S, Sazawa A, Shinohara N, et al. Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene. Endocr J. 2010;57:745-50 pubmed
    ..VHL and NF-1, genes encoding succinate dehydrogenase complex subunit B (SDHB), subunit C (SDHC), and subunit D (SDHD) are recognized as susceptibility genes for PCC and PGL...
  40. Wang C, Chen T, Chang Y, Ko J, Yang T, Lo F, et al. Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. Oral Oncol. 2012;48:125-9 pubmed publisher
    ..Four unrelated families with familial HNPGLs were screened for germline mutations in the SDHB, SDHC and SDHD genes by direct sequencing...
  41. Pillai S, Gopalan V, Smith R, Lam A. Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era. Crit Rev Oncol Hematol. 2016;100:190-208 pubmed publisher
    Genetic mutations of phaeochromocytoma (PCC) and paraganglioma (PGL) are mainly classified into two major clusters...
  42. Peng N, Ai Z, Fang Z, Wang Y, Xia Z, Zhong Z, et al. Homogeneous synthesis of quaternized chitin in NaOH/urea aqueous solution as a potential gene vector. Carbohydr Polym. 2016;150:180-6 pubmed publisher
    ..Transfection efficiencies of the QCs/DNA complexes were measured using pGL-3 encoding luciferase as the foreign DNA, and the QCs/DNA complexes showed effective transfection efficiencies in ..
  43. Eijkelenkamp K, Osinga T, de Jong M, Sluiter W, Dullaart R, Links T, et al. Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers. Fam Cancer. 2017;16:123-130 pubmed publisher
    ..encoding succinate dehydrogenase subunit B (SDHB) predispose to head-and-neck-paraganglioma (HNPGL), sympathetic PGL, pheochromocytoma and renal cell carcinoma for which regular surveillance is required...
  44. Svahn F, Juhlin C, Paulsson J, Fotouhi O, Zedenius J, Larsson C, et al. TERT promoter hypermethylation is associated with metastatic disease in abdominal paraganglioma. Clin Endocrinol (Oxf). 2017;: pubmed publisher
    ..Pheochromocytomas (PCC) and abdominal paragangliomas (PGL) (together PPGL) are endocrine tumours for which TERT promoter mutations and telomerase activation have been ..
  45. Anand G, Yadav S, Tanveer A, Nasim J, Singh N, Dubey A, et al. Genome-Wide Assessment of Polygalacturonases-Like (PGL) Genes of Medicago truncatula, Sorghum bicolor, Vitis vinifera and Oryza sativa Using Comparative Genomics Approach. Interdiscip Sci. 2018;10:704-721 pubmed publisher
    ..ssp. japonica genomes revealed 53, 49, 38 and 35 PG-like (PGL) genes, respectively...
  46. Neumayer C, Moritz A, Asari R, Weinhäusel A, Holzenbein T, Kretschmer G, et al. Novel SDHD germ-line mutations in pheochromocytoma patients. Eur J Clin Invest. 2007;37:544-51 pubmed
    b>SDHD germ-line mutations predispose to pheochromocytoma (PCC) and paraganglioma (PGL). The incidence and types of SDHD germ-line mutations are determined in 70 patients with apparently sporadic adrenal and extra-adrenal PCC...
  47. Pasini B, McWhinney S, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet. 2008;16:79-88 pubmed
    ..the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively)...
  48. Peczkowska M, Erlic Z, Hoffmann M, Furmanek M, Cwikla J, Kubaszek A, et al. Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. J Clin Endocrinol Metab. 2008;93:4818-25 pubmed publisher
    Germline mutations of the genes SDHB, SDHC, and SDHD predispose to paraganglioma syndromes. Mutation-specific counseling, risk assessment, and management recommendations ideally should be performed...
  49. Venkatesan A, Trivedi H, Adams K, Kebebew E, Pacak K, Hughes M. Comparison of clinical and imaging features in succinate dehydrogenase-positive versus sporadic paragangliomas. Surgery. 2011;150:1186-93 pubmed publisher
    ..18)F-fluoro-deoxy-glucose positron emission tomography [(18)F-FDG-PET]) features obtained during a decade in 124 PGL patients were studied. Data were analyzed by Fisher's exact test or Wilcoxon rank-sum test...
  50. Pfleger J, He M, Abdellatif M. Mitochondrial complex II is a source of the reserve respiratory capacity that is regulated by metabolic sensors and promotes cell survival. Cell Death Dis. 2015;6:e1835 pubmed publisher
    ..Thus, for the first time, we show that metabolic sensors via Sirt3 maximize the cellular RRC through activating cII, which enhances cell survival after hypoxia. ..
  51. Dooley H, Shaw M, Spink J, Kildea S. The effect of succinate dehydrogenase inhibitor/azole mixtures on selection of Zymoseptoria tritici isolates with reduced sensitivity. Pest Manag Sci. 2016;72:1150-9 pubmed publisher
    ..In a subgroup of isolates least sensitive to isopyrazam, non-synonymous mutations were found in the SdhC and SdhD subunits, but their presence was unrelated to sensitivity...
  52. Davis B, Thompson T, Wolin E. 18F-FDG PET/CT Imaging of Primary Gastric Lymphoma. J Nucl Med Technol. 2016;44:263-264 pubmed
    Primary gastric lymphoma (PGL) accounts for less than 4% of gastric neoplasms. 18F-FDG PET with simultaneously acquired CT (18F-FDG PET/CT) allows for staging and differentiation from other gastric cancers...
  53. Knie B, Plotkin M, Zschieschang P, Prasad V, Moskopp D. A family with pheochromocytoma-paraganglioma inherited tumour syndrome. Serial 18F-DOPA PET/CT investigations. Nuklearmedizin. 2016;55:34-40 pubmed publisher
    ..We are currently supervising one of the largest documented families in Germany with genetically determined SDHD gene mutation...
  54. Daniel E, Jones R, Bull M, Newell Price J. Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations. Eur J Endocrinol. 2016;175:561-570 pubmed
    ..Clinical and imaging data of 47 patients with SDHx mutations (SDHB (36), SDHC (6) and SDHD (5)) who had surveillance for detection of paragangliomas by rapid-sequence non-contrast MRI (base of skull to ..
  55. Macedo A, Cunha J, Yaochite J, Tavares C, Nagao Dias A. Salivary anti-PGL-1 IgM may indicate active transmission of Mycobacterium leprae among young people under 16 years of age. Braz J Infect Dis. 2017;21:557-561 pubmed publisher
    ..The study aimed to analyze salivary anti-PGL-1 IgA and IgM antibodies in 169 children aged 4-16 years old, who lived nearby or inside the house of ..
  56. Sung M, Kawasaki I, Shim Y. Depletion of cdc-25.3, a Caenorhabditis elegans orthologue of cdc25, increases physiological germline apoptosis. FEBS Lett. 2017;591:2131-2146 pubmed publisher
    ..Notably, the number of germ cells that lose P-granule components, PGL-1 and PGL-3, increase in cdc-25.3 mutants, and the increase in germline apoptosis requires the activity of SIR-2...
  57. Kytola S, Nord B, Elder E, Carling T, Kjellman M, Cedermark B, et al. Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Genes Chromosomes Cancer. 2002;34:325-32 pubmed
    ..tumors show frequent somatic deletions of the distal part of chromosome arm 11q, where the tumor-suppressor gene SDHD (succinate-ubiquinone oxidoreductase subunit D), constitutionally mutated in paragangliomas of the head and neck, ..
  58. Cascon A, Ruiz Llorente S, Cebrian A, Telleria D, Rivero J, Diez J, et al. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. Eur J Hum Genet. 2002;10:457-61 pubmed
    ..the autonomic nervous system and germline mutations in the gene encoding succinate dehydrogenase complex subunit D (SDHD) is increasingly a subject of study...
  59. Kawasaki I, Amiri A, Fan Y, Meyer N, Dunkelbarger S, Motohashi T, et al. The PGL family proteins associate with germ granules and function redundantly in Caenorhabditis elegans germline development. Genetics. 2004;167:645-61 pubmed
    b>PGL-1 is a constitutive protein component of C. elegans germ granules, also known as P granules...
  60. Havekes B, Corssmit E, Jansen J, van der Mey A, Vriends A, Romijn J. Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. J Clin Endocrinol Metab. 2007;92:1245-8 pubmed
    ..dehydrogenase B (SDHB) gene, but have rarely been associated with mutations in the succinate dehydrogenase D (SDHD) gene...
  61. Persu A, Hamoir M, Gregoire V, Garin P, Duvivier E, Reychler H, et al. High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. J Hypertens. 2008;26:1395-401 pubmed publisher
    ..This high prevalence was mainly due to the discovery of the role of SDH genes. While SDHD has been more frequently associated with the pathogenesis of head and neck paragangliomas, SDHB mutations were ..
  62. Hensen E, Jansen J, Siemers M, Oosterwijk J, Vriends A, Corssmit E, et al. The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. Eur J Hum Genet. 2010;18:62-6 pubmed publisher
    Germline mutations in SDHD predispose to the development of head and neck paragangliomas, and phaeochromocytomas...
  63. Zha Y, Chen X, Lam C, Lee S, Tong S, Gao Z. Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?. Laryngoscope. 2011;121:1760-4 pubmed publisher
    ..3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation...
  64. Schiavi F, Demattè S, Cecchini M, Taschin E, Bobisse S, Del Piano A, et al. The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. J Clin Endocrinol Metab. 2012;97:E637-41 pubmed publisher
    ..a rare autosomal dominant disease called paraganglioma type 1 syndrome and caused by germ-line mutations of the SDHD gene...
  65. Heesterman B, Bayley J, Tops C, Hes F, van Brussel B, Corssmit E, et al. High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations. Eur J Hum Genet. 2013;21:469-70 pubmed publisher
    ..Carriers of germline mutations in the SDHB or SDHD genes may develop parasympathetic paragangliomas in the head and neck region or sympathetic catecholamine-secreting ..
  66. Kugelberg J, Welander J, Schiavi F, Fassina A, Bäckdahl M, Larsson C, et al. Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas. World J Surg. 2014;38:724-32 pubmed publisher
    ..SDHAF2 (previously termed SDH5) and SDHD are both located on chromosome 11q and are required for the function of mitochondrial complex II...
  67. Shi T, Wang K, Yang P. The evolution of plant microRNAs: insights from a basal eudicot sacred lotus. Plant J. 2017;89:442-457 pubmed publisher
    ..families featuring older age, higher copy and target number tend to show lower propensity for miRNA family loss (PGL) and stronger signature of purifying selection during divergence of temperate and tropical lotus...
  68. Jochmanová I, Lazúrová I. [Diagnosis and management of metastatic pheochromocytoma and paraganglioma]. Vnitr Lek. 2017;63:580-588 pubmed
    Pheochromocytoma (PHEO) and paraganglioma (PGL) are rare catecholamine-producing neuroendocrine tumors arising from adrenal medulla or extra-adrenal sympathetic and parasympathetic ganglia...
  69. de Oliveira F, Olvera D, Sawkins M, Cryan S, Kimmins S, da Silva T, et al. Direct UV-Triggered Thiol-ene Cross-Linking of Electrospun Polyester Fibers from Unsaturated Poly(macrolactone)s and Their Drug Loading by Solvent Swelling. Biomacromolecules. 2017;: pubmed publisher
    ..Here, electrospinning of unsaturated aliphatic polyglobalide (PGl) into well-defined fibers with an average diameter of 9 ?m is demonstrated...
  70. Boedeker C, Neumann H, Maier W, Bausch B, Schipper J, Ridder G. Malignant head and neck paragangliomas in SDHB mutation carriers. Otolaryngol Head Neck Surg. 2007;137:126-9 pubmed
    ..PGL 1 is associated with mutations of the succinate dehydrogenase subunit D (SDHD) gene, PGL 3 is caused by SDHC gene mutations, and PGL 4 is caused by SDHB gene mutations...
  71. Timmers H, Pacak K, Huynh T, Abu Asab M, Tsokos M, Merino M, et al. Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene. J Clin Endocrinol Metab. 2008;93:4826-32 pubmed publisher
    Patients with adrenal and extra-adrenal abdominal paraganglioma (PGL) almost invariably have increased plasma and urine concentrations of metanephrines, the O-methylated metabolites of catecholamines...
  72. Prontera P, Ferrando B, Giuliani V, Falcinelli F, Mencarelli A, Rogaia D, et al. A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. Genet Couns. 2008;19:413-8 pubmed
    ..heterozygous mutations in one of the genes encoding for succinate dehydrogenase subunits B, C or D (SDHB, SDHC or SDHD) are responsible for hereditary paragangliomas (PGLs), accounting for nearly 70% of familial cases...
  73. Havekes B, van der Klaauw A, Weiss M, Jansen J, van der Mey A, Vriends A, et al. Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas. Endocr Relat Cancer. 2009;16:527-36 pubmed publisher
    Patients with SDHD-associated head-and-neck paragangliomas (HNP) are at risk for developing pheochromocytomas for which screening has been advised...
  74. Lendvai N, Toth M, Valkusz Z, Beko G, Szucs N, Csajbók E, et al. Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome. Clinics (Sao Paulo). 2012;67 Suppl 1:85-9 pubmed
    ..The high prevalence of the G12S variant in patients with multiple endocrine neoplasia type 2A raises questions about its role as a genetic modifier, but this proposal remains to be established. ..
  75. Pai R, Ebenazer A, Paul M, Thomas N, Nair A, Seshadri M, et al. Mutations seen among patients with pheochromocytoma and paraganglioma at a referral center from India. Horm Metab Res. 2015;47:133-7 pubmed publisher
    Determining the mutational status of susceptibility genes including RET, VHL, SDHx (SDHB, SDHC, SDHD) among patients with pheochromocytoma/paraganglioma (PCC/PGL) is gaining importance...
  76. Zong L, Meng L, Shi R. Role of miR-101 in pheochromocytoma patients with SDHD mutation. Int J Clin Exp Pathol. 2015;8:1545-54 pubmed
    ..level of miRNAs in patients with different kind PCCs (healthy control, benign, malignant, malignant with or without SDHD mutation, adrenal and extra-adrenal) was analyzed using the qRT-PCR analysis...
  77. Mason E, Hornick J. Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases. Am J Surg Pathol. 2016;40:1616-1621 pubmed
    ..Of 35 patients tested, 26 harbored SDH mutations (11 SDHA, 8 SDHB, 6 SDHC, 1 SDHD). Follow-up data available for 70 patients ranged from 1 month to 39...
  78. Dwight T, Na U, Kim E, Zhu Y, Richardson A, Robinson B, et al. Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma. BMC Cancer. 2017;17:497 pubmed publisher
    ..of succinate dehydrogenase (SDH) are associated with the development of pheochromocytoma (PC) and/or paraganglioma (PGL)...
  79. Samuel N, Ejaz R, Silver J, Ezzat S, Cusimano R, Kim R. Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene. J Surg Oncol. 2018;117:160-162 pubmed publisher
    ..Here, we report a unique case of a patient with a primary left ventricular cardiac paraganglioma (PGL) and describe the role of a medical genetics assessment leading to the identification of a rare variant in the SDHB ..
  80. Casey R, Warren A, Martin J, Challis B, Rattenberry E, Whitworth J, et al. Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review. J Clin Endocrinol Metab. 2017;102:4013-4022 pubmed publisher
    ..Subsequently, other shared genetic causes of predisposition to renal tumors and to PC, paraganglioma (PGL), or head and neck paraganglioma (HNPGL) have been described, but case series of non-VHL-related cases of renal ..
  81. Han H, Yang J, Wang Y, Chen W, Chen J, Yang Y, et al. Nucleobase-modified polyamidoamine-mediated miR-23b delivery to inhibit the proliferation and migration of lung cancer. Biomater Sci. 2017;5:2268-2275 pubmed publisher
    ..exhibited an obviously enhanced transfection efficiency through the transfection assay of plasmids pEGFP-N3 and pGL-3...
  82. Richardus R, van der Zwet K, van Hooij A, Wilson L, Oskam L, Faber R, et al. Longitudinal assessment of anti-PGL-I serology in contacts of leprosy patients in Bangladesh. PLoS Negl Trop Dis. 2017;11:e0006083 pubmed publisher
    ..Antibody (Ab) levels directed against the M.leprae-specific phenolic glycolipid I (PGL-I) represents a surrogate marker for bacterial load...
  83. Milunsky J, Maher T, Michels V, Milunsky A. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet. 2001;100:311-4 pubmed
    ..1 and 11q23, has been previously reported. Recently, germline mutations in SDHD, a mitochondrial complex II gene on chromosome 11q23, have been demonstrated...
  84. Persu A, Lannoy N, Maiter D, Mendola A, Montigny P, Oriot P, et al. Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: an update. Horm Metab Res. 2012;44:349-53 pubmed publisher
    ..In hnPGLs, 10 different SDHD mutations (3 substitutions, 5 deletions, 2 splice site mutations) were detected in 16 patients, including 7 ..
  85. Van Hulsteijn L, Heesterman B, Jansen J, Bayley J, Hes F, Corssmit E, et al. No evidence for increased mortality in SDHD variant carriers compared with the general population. Eur J Hum Genet. 2015;23:1713-6 pubmed publisher
    Germline variants in subunit D of the succinate dehydrogenase gene (SDHD variants) are associated with an increased risk of developing paragangliomas...
  86. Hoekstra A, Addie R, Ras C, Seifar R, Ruivenkamp C, Briaire de Bruijn I, et al. Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers. Hum Mol Genet. 2016;25:3715-3728 pubmed publisher
    Mutations in SDHD and SDHAF2 (both located on chromosome 11) give rise to hereditary paraganglioma almost exclusively after paternal transmission of the mutation, and tumours often show loss of the entire maternal copy of chromosome 11...
  87. Hoekstra A, van den Ende B, Julià X, van Breemen L, Scheurwater K, Tops C, et al. Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma. Clin Genet. 2017;91:536-544 pubmed publisher
    ..Although most mutations in SDHB, SDHC and SDHD are intraexonic variants, large germline deletions may represent up to 10% of all variants but are rarely ..
  88. Pillai S, Gopalan V, Lam A. Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas. Crit Rev Oncol Hematol. 2017;116:58-67 pubmed publisher
    Genetic testing is recommended for patients with phaeochromocytoma (PCC) and paraganglioma (PGL) because of their genetic heterogeneity and heritability...
  89. Madigan C, Cambier C, Kelly Scumpia K, Scumpia P, Cheng T, Zailaa J, et al. A Macrophage Response to Mycobacterium leprae Phenolic Glycolipid Initiates Nerve Damage in Leprosy. Cell. 2017;170:973-985.e10 pubmed publisher
    ..leprae-specific phenolic glycolipid 1 (PGL-1) with myelinating glia and their subsequent infection...
  90. Selak M, Durán R, Gottlieb E. Redox stress is not essential for the pseudo-hypoxic phenotype of succinate dehydrogenase deficient cells. Biochim Biophys Acta. 2006;1757:567-72 pubmed
    ..Here we show that pseudo-hypoxia can be observed in SDH-suppressed cells in the absence of oxidative stress and in the presence of effective antioxidant treatment. ..
  91. Lintell N, Maguire D, Griffiths L, McCabe M. Analysis of SDHD and MMP12 in an affected solar keratosis and control cohort. Adv Exp Med Biol. 2007;599:79-85 pubmed
    ..More specifically the first aim of this project was to analyse the SDHD and MMP12 genes via Dual-Labelled Probe Real-Time PCR for copy number aberrations in an affected Solar Keratosis ..
  92. van Hulsteijn L, den Dulk A, Hes F, Bayley J, Jansen J, Corssmit E. No difference in phenotype of the main Dutch SDHD founder mutations. Clin Endocrinol (Oxf). 2013;79:824-31 pubmed publisher
    b>SDHD mutations predispose carriers to hereditary paraganglioma syndrome...