Disomy as the Genetic Underlying Mechanisms of Loss of Heterozigosity in SDHD-Paragangliomas | Zendy

Elena Beristain | Zendy; M. Mar Montejo Vicente | Zendy; Isabel Guerra | Zendy; Francisco-Borja Gutiérrez-Corres | Zendy; Intza Garin | Zendy; Guiomar Pérez de Nanclares | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Disomy as the Genetic Underlying Mechanisms of Loss of Heterozigosity in SDHD-Paragangliomas

Author(s) -

Elena Beristain,

M. Mar Montejo Vicente,

Isabel Guerra,

Francisco-Borja Gutiérrez-Corres,

Intza Garin,

Guiomar Pérez de Nanclares

Publication year - 2013

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-4083

Subject(s) - sdhd , loss of heterozygosity , biology , genetics , allele , multiplex ligation dependent probe amplification , dna methylation , mutation , cancer research , germline mutation , exon , gene expression , gene

Succinate dehydrogenase complex, subunit D (SDHD) mutations cause pheochromocytoma/paraganglioma syndrome. SDHD, located at chromosome 11q23, shows a parent-of-origin effect because the disease is observed almost exclusively when the mutation is transmitted from the father, although some cases of maternal transmission have been reported. Several hypotheses have been proposed for this peculiar inheritance pattern, but the underlying mechanisms have not yet been clearly elucidated.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research