Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes.
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Summary
Elucidation of the molecular defects responsible for Carney complex, Peutz-Jeghers and Ruvalcaba-Myhre-Smith syndromes is expected to shed light on aspects of early neural crest differentiation, the regulation of pigmentation, the development of autonomous endocrine function, and endocrine and nonendocrine tumorigenesis.
- Type
- review
- Published
- 2000-03-01
- Cited by
- 51
- References
- 130
- Access
- Open access
- OpenAlex
- https://openalex.org/W1544637912
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:11776170
Keywords
Carney complex, Neural crest, Endocrine system, Cowden syndrome, Medicine
References
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- A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
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- THE RET PROTO-ONCOGENE AND MULTIPLE ENDOCRINE NEOPLASIA TYPE II
- Parent-of-origin effects in multiple endocrine neoplasia type 2B.
- Multiple lentigenes syndrome.
- Stem cell factor regulates the melanocyte cytoskeleton.
- Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, hypertelorism, and myopia.
- Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).
- Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas.
- Is human patched the gatekeeper of common skin cancers?
- Cytogenetics of a case of cardiac myxoma.
- ret protooncogene mutations and endocrine neoplasia--a story intertwined with neural crest differentiation.
- A pericentric inversion of chromosome six in a patient with Peutz-Jeghers’ syndrome and the use of FISH to localise the breakpoints on a genetic map
- Multiple polyps of esophagus, stomach, colon, and rectum accompanying rectal cancer in a patient with constitutional chromosomal inversion
- Pulmonary stenosis, café-au-lait spots, and dull intelligence.
- Centrofacial lentiginosis
- Genetic susceptibility and somatic mutation in the production of freckles, birthmarks and moles.
- Alkaptonuria: such a long journey
Cited by
- Molecular cloning, chromosomal localization of human peripheral‐type benzodiazepine receptor‐ and protein kinase A regulatory subunit type 1A (PRKAR1A)‐associated protein PAP7 and studies in PRKAR1A mutant cells and tissues
- [Carney complex. Clinical, pathological and genetic features in two generations of a family].
- Genetics of the Development and Function of the Adrenal Cortex
- Analisi del gene PRKA1A in una famiglia affetta da Carney Complex
- Hamartoma and lentiginosis syndromes: clinical and molecular aspects.
- Medical and Surgical Management of Carney Complex
- Ectopic Thymus Presenting as a Thyroid Nodule in a Patient with the Carney Complex
- Mutations of the Gene Encoding the Protein Kinase A Type I‐α Regulatory Subunit (PRKAR1A) in Patients with the “Complex of Spotty Skin Pigmentation, Myxomas, Endocrine Overactivity, and Schwannomas” (Carney Complex)
- cAMP and protein kinase A in endocrine (and other) tumors
- Clinical and molecular genetics of Carney complex.
- Volar Melanotic Macules in a Gardener: A Case Report and Review of the Literature
- Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes
- The differential diagnosis of familial lentiginosis syndromes
- Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!
- PRKAR1A gene mutation in patients with cardiac myxoma.
- Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation.
- Non-cancerous ophthalmic clues to non-ocular cancer.
- Multiple lentigines associated with cutaneous myxomas.
- Genetics of Peutz-Jeghers Syndrome, Carney Complex and Other Familial Lentiginoses
- Clinical and molecular genetics of primary pigmented nodular adrenocortical disease.
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