相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Oncogenic RET Kinase Domain Mutations Perturb the Autophosphorylation Trajectory by Enhancing Substrate Presentation In trans
Ivan Plaza-Menacho et al.
MOLECULAR CELL (2014)
Prevalence by Age and Predictors of Medullary Thyroid Cancer in Patients with Lower Risk Germline RET Proto-Oncogene Mutations
Thereasa A. Rich et al.
THYROID (2014)
Disease variants in genomes of 44 centenarians
Yun Freudenberg-Hua et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2014)
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes
Mariola Peczkowska et al.
CLINICAL ENDOCRINOLOGY (2013)
Thyroid cancer and co-occurring RET mutations in Hirschsprung disease
Valtter B. Virtanen et al.
ENDOCRINE-RELATED CANCER (2013)
Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease
Brandy D. Hyndman et al.
HUMAN MUTATION (2013)
In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer
B. Cosci et al.
ENDOCRINE-RELATED CANCER (2011)
RET-protooncogene variants in patients with sporadic neoplasms of the digestive tract and the central nervous system
Felix Rueckert et al.
INTERNATIONAL JOURNAL OF COLORECTAL DISEASE (2011)
Mendelian genetics of rare-and not so rare-cancers
Charis Eng
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
New Mutations in the RET Protooncogene-L881V-Associated with Medullary Thyroid Carcinoma and-R770Q-in a Patient with Mixed Medullar/Follicular Thyroid Tumour
K. Frank-Raue et al.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2010)
MaCH: Using Sequence and Genotype Data to Estimate Haplotypes and Unobserved Genotypes
Yun Li et al.
GENETIC EPIDEMIOLOGY (2010)
High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene
Rodrigo A. Toledo et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome
Zoran Erlic et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Vandetanib for the Treatment of Patients With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer
Samuel A. Wells et al.
JOURNAL OF CLINICAL ONCOLOGY (2010)
DOG 1.0: illustrator of protein domain structures
Jian Ren et al.
CELL RESEARCH (2009)
Multiple Endocrine Neoplasia Type 2 RET Protooncogene Database: Repository of MEN2-Associated RET Sequence Variation and Reference for Genotype/Phenotype Correlations
Rebecca L. Margraf et al.
HUMAN MUTATION (2009)
Improving physical realism, stereochemistry, and side-chain accuracy in homology modeling: Four approaches that performed well in CASP8
Elmar Krieger et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2009)
Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association
Richard T. Kloos et al.
THYROID (2009)
Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791
Karin Frank-Raue et al.
CLINICAL ENDOCRINOLOGY (2008)
Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma
Mario Colombo-Benkmann et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2008)
Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred:: evaluation of phenotype-modifying effect of germline variants
Rosana Tamanaha et al.
CLINICAL ENDOCRINOLOGY (2007)
Codon Y791F mutations in a large kindred: Is prophylactic thyroidectomy always indicated?
Peter Vestergaard et al.
WORLD JOURNAL OF SURGERY (2007)
Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation
Ivan Plaza-Menacho et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes
Macarena Ruiz-Ferrer et al.
GENETICS IN MEDICINE (2006)
Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation
H Vierhapper et al.
THYROID (2005)
Management of multiple endocrine aleoplasia syndrome type 2 families in association with rare germline mutations of the RET proto-oncogene
G Fitze et al.
KLINISCHE PADIATRIE (2004)
Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors
F Carlomagno et al.
ONCOGENE (2004)
RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome?
O Gimm et al.
SURGERY (2002)
Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations
G Fitze et al.
ANNALS OF SURGERY (2002)
Guidelines for diagnosis and therapy of MEN type 1 and type 2
ML Brandi et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2001)
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ATG) mutation
GL Feldman et al.
SURGERY (2000)
分享论文
