(Q28213285)

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

31 March 2020

1 reference

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

31 March 2020

1 reference

HEREDITARY DEFICIENCIES OF CLOTTING FACTORS VII AND X ASSOCIATED WITH CAROTID-BODY TUMORS

31 March 2020

1 reference

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

31 March 2020

1 reference

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

31 March 2020

1 reference

Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families

31 March 2020

1 reference

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

31 March 2020

1 reference

Germ-line mutations in nonsyndromic pheochromocytoma

31 March 2020

1 reference

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

31 March 2020

1 reference

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

31 March 2020

1 reference

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

31 March 2020

1 reference

Hereditary paraganglioma targets diverse paraganglia

31 March 2020

1 reference

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

31 March 2020

1 reference

Inherited susceptibility to uterine leiomyomas and renal cell cancer

31 March 2020

1 reference

31 March 2020

1 reference

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

31 March 2020

1 reference

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

31 March 2020

1 reference

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

31 March 2020

1 reference

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma

31 March 2020

1 reference

The pressure rises: update on the genetics of phaeochromocytoma

31 March 2020

1 reference

Mitochondrial dysfunction in neurodegenerative disorders

31 March 2020

1 reference

Subacute necrotizing encephalomyelopathy in an infant

31 March 2020

1 reference

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

31 March 2020

1 reference

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

31 March 2020

1 reference

Progress in understanding structure-function relationships in respiratory chain complex II.

31 March 2020

1 reference

The Quinone-binding sites of the Saccharomyces cerevisiae succinate-ubiquinone oxidoreductase

31 March 2020

1 reference

Structure of the Escherichia coli fumarate reductase respiratory complex

31 March 2020

1 reference

On the possible interelations of the reactivity of soluble succinate dehydrogenase with ferricyanide, reconstitution activity, and the hipip iron sulfur center

31 March 2020

1 reference

The C-terminus of the succinate dehydrogenase IP peptide of Saccharomyces cerevisiae is significant for assembly of complex II

31 March 2020

1 reference

Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance

31 March 2020

1 reference

Mitochondrial reactive oxygen species trigger hypoxia-induced transcription

31 March 2020

1 reference

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

31 March 2020

1 reference

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

31 March 2020

1 reference

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

31 March 2020

1 reference

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

31 March 2020

1 reference

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

31 March 2020

1 reference

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

31 March 2020

1 reference

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

31 March 2020

1 reference

The role of mitochondrial factors in apoptosis: a Russian roulette with more than one bullet.

31 March 2020

1 reference

Mitochondria, the killer organelles and their weapons

31 March 2020

1 reference

Cellular mechanism of oxygen sensing

31 March 2020

1 reference

NADH oxidase activity of mitochondrial apoptosis-inducing factor

31 March 2020

1 reference

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

31 March 2020

1 reference

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

31 March 2020

1 reference

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

31 March 2020

1 reference

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

31 March 2020

1 reference

Mitochondria and apoptosis

31 March 2020

1 reference

Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours

31 March 2020

1 reference

Somatic mutations of the mitochondrial genome in human colorectal tumours

31 March 2020

1 reference

Mitochondrial mutations in early stage prostate cancer and bodily fluids

31 March 2020

1 reference

High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples

31 March 2020

1 reference