Parent-of-origin effects in multiple endocrine neoplasia type 2B.
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Summary
A differential susceptibility of RET to mutation in paternally and maternally derived DNA and a possible role for imprinting of RET during development is suggested.
- Type
- article
- Published
- 1994-12-01
- Cited by
- 226
- References
- 43
- Access
- Open access
- OpenAlex
- https://openalex.org/W1505574847
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:45210827
Keywords
Proto-Oncogene Proteins c-ret, Multiple endocrine neoplasia, Biology, Multiple endocrine neoplasia type 2, Allele
References
- Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors.
- Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence.
- Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.
- Improved predictive test for MEN2, using flanking dinucleotide repeats and RFLPs.
- The genetics of retinoblastoma, revisited.
- Mutation and cancer: a model for Wilms' tumor of the kidney.
- Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
- Parental origin of chromosomes involved in the translocation t(9;22)
- Histologic study of the ocular lesions in multiple endocrine neoplasia syndrome type IIb.
- Generation of a panel of somatic cell hybrids containing unselected fragments of human chromosome 10 by X-ray irradiation and cell fusion: Application to isolating theMEN2A region in hybrid cells
- Parental origin of mutations of the retinoblastoma gene
- Mosaic and polymorphic imprinting of the WT1 gene in humans
- Assignment of the gene encoding the beta‐subunit of the human fibronectin receptor (β‐FNR) to chromosome 10p11.2
- A polymorphic dinucleotide repeat at the D10S141 locus.
- Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.
- Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.
- Paternal origin of new mutations in Von Recklinghausen neurofibromatosis
- New method for mapping genes in human chromosomes
- The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans
- Loss of a Harvey ras allele in sporadic Wilms' tumour
Cited by
- Diabetes Mellitus as a Primary Manifestation of Multiple Endocrine Neoplasia Type 2B
- Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective.
- Síndrome de neoplasia múltiple tipo IIB (MEN IIB): A propósito de un caso
- Multiple endocrine neoplasia type 2.
- Guía de consenso para el diagnóstico y seguimiento de la enfermedad tiroidea: parte IV
- Oral Mucosal Neuromas Leading to the Diagnosis of Multiple Endocrine Neoplasia Type 2B in a Child With Intestinal Pseudo-obstruction.
- Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes.
- Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease.
- Medullary thyroid carcinoma.
- Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma
- Medical and Surgical Management of Carney Complex
- The MEN II syndromes and the role of the ret proto-oncogene.
- Neural Tumours of Oral and Para Oral Region
- Exclusive paternal origin of new mutations in Apert syndrome
- RET tyrosine kinase signaling in development and cancer.
- Epidemiology of neurofibromatosis type 1.
- Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B
- Advanced paternal age and reproductive outcome.
- Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
- RET mutations in human disease.
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