Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. - Wikidata - wikimedia - TriplyDB

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

http://www.wikidata.org/entity/Q44830441

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The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.Syndromic gastrointestinal stromal tumors Physiological consequences of complex II inhibition for aging, disease, and the mKATP channel A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.Paragangliomas/Pheochromocytomas: clinically oriented genetic testing Familial paragangliomas.Malignant head and neck paragangliomas in SDHB mutation carriers.Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.Genetic testing for pheochromocytoma.Chromosomal changes in sporadic and familial head and neck paragangliomas.SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes Genomic imprinting at a boundary element flanking the SDHD locus Paragangliomas and paraganglioma syndromes.Genomic imprinting and dermatological disease.Real-time PCR analysis of candidate imprinted genes on mouse chromosome 11 shows balanced expression from the maternal and paternal chromosomes and strain-specific variation in expression levels.An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma.Consensus statement and guidelines on the management of paragangliomas of the head and neck.Clinical features of paraganglioma syndromes.A conditional mouse mutant in the tumor suppressor SdhD gene unveils a link between p21(WAF1/Cip1) induction and mitochondrial dysfunction.Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC).Human imprinting syndromes.Renal cancer in von Hippel-Lindau disease and related syndromes.Genetics of hereditary head and neck paragangliomas.Translational research in endocrine surgery.A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.Genetically modeled mice with mutations in mitochondrial metabolic enzymes for the study of cancer Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma.Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers.The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers.Molecular cytogenetic characterization in four pediatric pheochromocytomas and paragangliomas.Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma.Differential impairment of catecholaminergic cell maturation and survival by genetic mitochondrial complex II dysfunction.Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.Novel germline SDHD mutation: diagnosis and implications to the patient.

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Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

http://www.wikidata.org/entity/Q44830441

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2004 nî lūn-bûn

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2004年学术文章

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Somatic loss of maternal chrom ...... nd phaeochromocytoma families.

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Somatic loss of maternal chrom ...... and phaeochromocytoma families

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Andel G L van der Mey

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Cees J Cornelisse

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Erik F Hensen

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Ivonne J H M van Minderhout

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Peter Devilee

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P2860

Akt phosphorylation of BAD couples survival signals to the cell-intrinsic death machinery

H19 RNA binds four molecules of insulin-like growth factor II mRNA-binding protein

A role for mitochondrial enzymes in inherited neoplasia and beyond

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

Genetics of gene expression surveyed in maize, mouse and man

Epigenetic gene silencing in cancer.

The genetics and genomics of cancer.

Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.

Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology.

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4076-4083

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10.1038/SJ.ONC.1207591

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23

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23

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Ekaterina S. Jordanova

Peter E Taschner

Pancras C.W. Hogendoorn

Ekaterina S Jordanova

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2004-05-01T00:00:00Z

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8636331

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15064708

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