Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma - Test2 - elhamkhani - TriplyDB

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma

http://www.wikidata.org/entity/Q37809993

about

Head and neck paragangliomas: clinical and molecular genetic classification An update on the genetics of pheochromocytoma Pheochromocytoma: implications in tumorigenesis and the actual management Molecular markers of paragangliomas/pheochromocytomas Interplay between epigenetics and metabolism in oncogenesis: mechanisms and therapeutic approaches Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.False-negative ¹²³I-MIBG SPECT is most commonly found in SDHB-related pheochromocytoma or paraganglioma with high frequency to develop metastatic disease.Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.Succinate dehydrogenase expression in breast cancer.The power of yeast to model diseases of the powerhouse of the cell.Newly available antibodies with practical applications in surgical pathology.Genetic testing in head and neck paraganglioma: who, what, and why?Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.Succinate dehydrogenase (SDH)-deficient neoplasia.The clinical genetics of phaeochromocytoma and paraganglioma.Carney Stratakis syndrome in a patient with SDHD mutation.Current Diagnostic Status of Pheochromocytomaand Future Perspective: A Mini Review.

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Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma

http://www.wikidata.org/entity/Q37809993

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on June 2011

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma

@en

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.

@nl

type

label

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma

@en

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.

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prefLabel

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma

@en

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.

@nl

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S10689-010-9402-1

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Familial Cancer

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Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma

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Erik F Hensen

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Jean-Pierre Bayley

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P2860

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

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

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Multiprotein complex containing succinate dehydrogenase confers mitochondrial ATP-sensitive K+ channel activity

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

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355-363

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scholarly article

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10.1007/S10689-010-9402-1

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2

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10

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2011-06-01T00:00:00Z

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47809729

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21082267

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transport protein

flavoprotein domain

succinate dehydrogenase (ubiquinone)

membrane proteins

adrenal gland neoplasm

phaeochromocytoma

macromolecular substances

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3100491

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