G12S and H50R variations are polymorphisms in the SDHD gene

2003 ◽  
Vol 37 (2) ◽  
pp. 220-221 ◽  
Author(s):  
Alberto Cascón ◽  
Sergio Ruiz-Llorente ◽  
Arancha Cebrián ◽  
Rocío Letón ◽  
Dolores Tellería ◽  
...  
Keyword(s):  
Sdhd Gene

Hereditary Paraganglioma Syndrome Associated with SDHD Gene Mutations: A Patient with Multicentric Presentation Treated with Radiotherapy. Case Report

2011 ◽  
Vol 97 (2) ◽  
pp. 214-220 ◽  
Author(s):  
Elisabetta Garibaldi ◽  
Sara Bresciani ◽  
Rocco Panaia ◽  
Elena Delmastro ◽  
Giuseppe Malinverni ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutations ◽  
Sdhd Gene ◽  
Paraganglioma Syndrome

scholarly journals 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

2001 ◽  
Vol 69 (6) ◽  
pp. 1186-1197 ◽  
Author(s):  
Anne-Paule Gimenez-Roqueplo ◽  
Judith Favier ◽  
Pierre Rustin ◽  
Jean-Jacques Mourad ◽  
Pierre-François Plouin ◽  
...  
Keyword(s):  
Enzymatic Activity ◽  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Complex Ii ◽  
Sdhd Gene ◽  
Mitochondrial Respiratory

Reduced expression and loss of heterozygosity of the SDHD gene in colorectal and gastric cancer

2003 ◽  
Author(s):  
Wataru Habano ◽  
Tamotsu Sugai ◽  
Shin-Ichi Nakamura ◽  
Noriyuki Uesugi ◽  
Taro Higuchi ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Loss Of Heterozygosity ◽  
Sdhd Gene

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?

2011 ◽  
Vol 121 (8) ◽  
pp. 1760-1764 ◽  
Author(s):  
Yang Zha ◽  
Xing-ming Chen ◽  
Ching-wan Lam ◽  
Soo-chin Lee ◽  
Sui-fan Tong ◽  
...  
Keyword(s):  
Head And Neck ◽  
Succinate Dehydrogenase ◽  
Founder Effect ◽  
Sdhd Gene ◽  
Head And Neck Paraganglioma

Mutation Analysis of the SDHD Gene in Four Kindreds with Familial Paraganglioma

2005 ◽  
Vol 14 (2) ◽  
pp. 109-114 ◽  
Author(s):  
Ana Velasco ◽  
Victor Palomar-Asenjo ◽  
Laura Ga??an ◽  
Lluis Catasus ◽  
Nuria Llecha ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Sdhd Gene

Malignant Head and Neck Paragangliomas in SDHB Mutation Carriers

2007 ◽  
Vol 137 (1) ◽  
pp. 126-129 ◽  
Author(s):  
Carsten Christof Boedeker ◽  
Hartmut P. H. Neumann ◽  
Wolfgang Maier ◽  
Birke Bausch ◽  
Jörg Schipper ◽  
...  
Keyword(s):  
Head And Neck ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Distant Metastases ◽  
High Rate ◽  
Body Region ◽  
Sdhb Mutation ◽  
Sdhd Gene ◽  
Mutation Carriers ◽  
Head And Neck Paragangliomas

OBJECTIVE: Three of four paraganglioma syndromes (PGLs) have been characterized on a molecular genetic basis. 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. The objective of this study was to investigate whether PGLs are associated with malignant head and neck paragangliomas (HNPs). STUDY DESIGN AND SETTING: Through November 2005, we screened 195 HNP patients for mutations of the genes SDHB, SDHC, and SDHD. RESULTS: We detected 5 SDHC, 13 SDHB, and 45 SDHD gene mutations. In seven SDHB mutation carriers, there were distant metastases. No signs of metastases were found in SDHC and SDHD patients. One patient with a sporadic HNP presented with locally metastatic disease. CONCLUSIONS: SDHB mutations are associated with a high rate of malignant HNPs. SIGNIFICANCE: In SDHB patients, a three-body region imaging and scintigraphy or DOPA-PET must be performed to exclude metastases.

scholarly journals A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region

2001 ◽  
Vol 9 (2) ◽  
pp. 121-129 ◽  
Author(s):  
Bora E Baysal ◽  
Joan E Willett-Brozick ◽  
Peter EM Taschner ◽  
JG Dauwerse ◽  
Peter Devilee ◽  
...  
Keyword(s):  
High Resolution ◽  
Tumour Suppressor ◽  
Bac Contig ◽  
Integrated Map ◽  
Sdhd Gene ◽  
Transcript Map
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