RET ELISA Kit for Human(Homo sapiens) | EIAab.comRET ELISA Kit for Human(Homo sapiens)

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RET (Gene name),

Proto-oncogene tyrosine-protein kinase receptor Ret (Protein name ), RET_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

RET(CDHF12;CDHR16;PTC;RET51);

Protein name:

Proto-oncogene tyrosine-protein kinase receptor Ret;

Alternative:

Proto-oncogene c-Ret;Cadherin family member 12;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Phosphorylated form interacts with the PBT domain of DOK2, DOK4 and DOK5. The phosphorylated form interacts with PLCG1 and GRB7.

Function:

Probable receptor with tyrosine-protein kinase activity; important for development.

Subcellular Location:

Membrane Single-pass type I membrane protein

Protein Attributes:

Sequence length:

1114

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1050:

1100:

1114:

LSPSAAKLMD | TFDS

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

hsa:5979

String:

P07949

Pfam:

PF00028

SMR:

P07949

STRING:

9606.ENSP00000347942

UniGene:

Hs.350321

MIM:

114500

Uniprot:

P07949

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ELISA Kit for Human Proto-oncogene tyrosine-protein kinase receptor Ret

Cat.:

E15070h

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MSDS:

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Packing:

96T

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ELISA Kit for Human Proto-oncogene tyrosine-protein kinase receptor Ret

Cat.:

E15070r

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Manual:

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96T

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ELISA Kit for Human Proto-oncogene tyrosine-protein kinase receptor Ret

MSDS:

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CLIA Kit for Human Proto-oncogene tyrosine-protein kinase receptor Ret

MSDS:

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CLIA Kit for Human Proto-oncogene tyrosine-protein kinase receptor Ret

MSDS:

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CLIA Kit for Human Proto-oncogene tyrosine-protein kinase receptor Ret

Cat.:

U15070h

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

Polyclonal Antibody for Human Proto-oncogene tyrosine-protein kinase receptor Ret

Monoclonal Antibody for Human Proto-oncogene tyrosine-protein kinase receptor Ret

Protein for Human Proto-oncogene tyrosine-protein kinase receptor Ret

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue: Prostate.
2.

"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P. , Earthrowl M.E. , Grafham D.V. , Rubenfield M. , French L. , Steward C.A. , Sims S.K. , Jones M.C. , Searle S. , Scott C. , Howe K. , Hunt S.E. , Andrews T.D. , Gilbert J.G.R. , Swarbreck D. , Ashurst J.L. , Taylor A. , Battles J. , more...
Nature429:375-381(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
3.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2);VARIANT CYS-982
tissue: Brain.
4.

"Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence."
Takahashi M.
Oncogene4:805-806(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-280 (ISOFORMS 1/2)
5.

"Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains."
Takahashi M. , Buma Y. , Iwamoto T. , Inaguma Y. , Ikeda H. , Hiai H.
Oncogene3:571-578(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 255-1114 (ISOFORM 1)
6.

"ret transforming gene encodes a fusion protein homologous to tyrosine kinases."
Takahashi M. , Cooper G.M.
Mol. Cell. Biol.7:1378-1385(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 588-1063 (ISOFORM 2);CHROMOSOMAL TRANSLOCATION WITH TRIM27
7.

"Activation of the ret-II oncogene without a sequence encoding a transmembrane domain and transforming activity of two ret-II oncogene products differing in carboxy-termini due to alternative splicing."
Ishizaka Y. , Ochiai M. , Tahira T. , Suhimura T. , Nahao M.
Oncogene4:789-794(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 713-1114 (ISOFORM 1);CHROMOSOMAL TRANSLOCATION WITH GOLGA5
tissue: Fibroblast.
8.

Ishizaka Y. , Ochiai M. , Tahira T. , Suhimura T. , Nahao M.
Oncogene4:1415-1415(1989)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
9.

"PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas."
Grieco M. , Santoro M. , Berlingieri M.T. , Melillo R.M. , Donghi R. , Bongarzone I. , Pierotti M.A. , Della Porta G. , Fusco A. , Vecchio G.
Cell60:557-563(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 713-1114 (ISOFORM 1);CHROMOSOMAL TRANSLOCATION WITH CCDC6
tissue: Thyroid papillary carcinoma.
10.

"RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma."
Corvi R. , Berger N. , Balczon R. , Romeo G.
Oncogene19:4236-4242(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 713-770 (ISOFORMS 1/2);CHROMOSOMAL TRANSLOCATION WITH PCM1
11.

"The transcription coactivator HTIF1 and a related protein are fused to the RET receptor tyrosine kinase in childhood papillary thyroid carcinomas."
Klugbauer S. , Rabes H.M.
Oncogene18:4388-4393(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHROMOSOMAL TRANSLOCATION WITH TRIM33 AND TRIM24
12.

"Tyrosines 1015 and 1062 are in vivo autophosphorylation sites in ret and ret-derived oncoproteins."
Salvatore D. , Barone M.V. , Salvatore G. , Melillo R.M. , Chiappetta G. , Mineo A. , Fenzi G. , Vecchio G. , Fusco A. , Santoro M.
J. Clin. Endocrinol. Metab.85:3898-3907(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT TYR-1015 AND TYR-1062
13.

"Identification of RET autophosphorylation sites by mass spectrometry."
Kawamoto Y. , Takeda K. , Okuno Y. , Yamakawa Y. , Ito Y. , Taguchi R. , Kato M. , Suzuki H. , Takahashi M. , Nakashima I.
J. Biol. Chem.279:14213-14224(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT TYR-806; TYR-809; TYR-900; TYR-905; TYR-981; TYR-1015; TYR-1062; TYR-1090 AND TYR-1096
14.

"Novel tumorigenic rearrangement, Delta rfp/ret, in a papillary thyroid carcinoma from externally irradiated patient."
Saenko V. , Rogounovitch T. , Shimizu-Yoshida Y. , Abrosimov A. , Lushnikov E. , Roumiantsev P. , Matsumoto N. , Nakashima M. , Meirmanov S. , Ohtsuru A. , Namba H. , Tsyb A. , Yamashita S.
Mutat. Res.527:81-90(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHROMOSOMAL TRANSLOCATION WITH TRIM27
15.

"The receptor-type protein tyrosine phosphatase J antagonizes the biochemical and biological effects of RET-derived oncoproteins."
Iervolino A. , Iuliano R. , Trapasso F. , Viglietto G. , Melillo R.M. , Carlomagno F. , Santoro M. , Fusco A.
Cancer Res.66:6280-6287(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT TYR-905; TYR-1015 AND TYR-1062;DEPHOSPHORYLATION AT TYR-905; TYR-1015 AND TYR-1062 BY PTPRJ
16.

"The discovery of substituted 4-(3-hydroxyanilino)-quinolines as potent RET kinase inhibitors."
Graham Robinett R. , Freemerman A.J. , Skinner M.A. , Shewchuk L. , Lackey K.
Bioorg. Med. Chem. Lett.17:5886-5893(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ENZYME REGULATION
17.

"Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting."
Plaza-Menacho I. , Mologni L. , Sala E. , Gambacorti-Passerini C. , Magee A.I. , Links T.P. , Hofstra R.M.W. , Barford D. , Isacke C.M.
J. Biol. Chem.282:29230-29240(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ENZYME REGULATION BY SORAFENIB
18.

"Synthesis, modeling, and RET protein kinase inhibitory activity of 3- and 4-substituted beta-carbolin-1-ones."
Cincinelli R. , Cassinelli G. , Dallavalle S. , Lanzi C. , Merlini L. , Botta M. , Tuccinardi T. , Martinelli A. , Penco S. , Zunino F.
J. Med. Chem.51:7777-7787(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ENZYME REGULATION BY 3- AND 4-SUBSTITUTED BETA-CARBOLIN-1-ONES
19.

"CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction."
Tsui C.C. , Pierchala B.A.
J. Neurosci.28:8789-8800(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CD2AP;MUTAGENESIS OF LYS-758
20.

"The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability."
Vargiolu M. , Fusco D. , Kurelac I. , Dirnberger D. , Baumeister R. , Morra I. , Melcarne A. , Rimondini R. , Romeo G. , Bonora E.
J. Clin. Endocrinol. Metab.94:2571-2578(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH AIP
21.

"Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3."
Leon T.Y.Y. , Ngan E.S.W. , Poon H.-C. , So M.-T. , Lui V.C.H. , Tam P.K.H. , Garcia-Barcelo M.M.
J. Pediatr. Surg.44:1904-1912(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INDUCTION BY NKX2-1; PHOX2B; SOX10 AND PAX3
22.

"Large-scale proteomics analysis of the human kinome."
Oppermann F.S. , Gnad F. , Olsen J.V. , Hornberger R. , Greff Z. , Keri G. , Mann M. , Daub H.
Mol. Cell. Proteomics8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-696;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
23.

"RETouching upon mechanoreceptors."
Ma Q.
Neuron64:773-776(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION IN DEVELOPMENT OF MECHANORECEPTORS
24.

"The evolving field of tyrosine kinase inhibitors in the treatment of endocrine tumors."
Ye L. , Santarpia L. , Gagel R.F.
Endocr. Rev.31:578-599(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ENZYME REGULATION;REVIEW ON KINASE INHIBITORS
25.

"Inhibitors of the RET tyrosine kinase based on a 2-(alkylsulfanyl)-4-(3-thienyl)nicotinonitrile scaffold."
Brandt W. , Mologni L. , Preu L. , Lemcke T. , Gambacorti-Passerini C. , Kunick C.
Eur. J. Med. Chem.45:2919-2927(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ENZYME REGULATION
26.

"Functional role of the RET dependence receptor, GFRa co-receptors and ligands in the pituitary."
Garcia-Lavandeira M. , Diaz-Rodriguez E. , Garcia-Rendueles M.E. , Rodrigues J.S. , Perez-Romero S. , Bravo S.B. , Alvarez C.V.
Front. Horm. Res.38:127-138(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION IN PITUITARY
27.

"RET-mediated cell adhesion and migration require multiple integrin subunits."
Cockburn J.G. , Richardson D.S. , Gujral T.S. , Mulligan L.M.
J. Clin. Endocrinol. Metab.95:E342-E346(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION IN CELL ADHESION/MIGRATION
28.

"Direct visualization of vesicle maturation and plasma membrane protein trafficking."
Richardson D.S. , Mulligan L.M.
J. Fluoresc.20:401-405(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
29.

"A novel RET inhibitor with potent efficacy against medullary thyroid cancer in vivo."
Samadi A.K. , Mukerji R. , Shah A. , Timmermann B.N. , Cohen M.S.
Surgery148:1228-1236(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ENZYME REGULATION
30.

"RET modulates cell adhesion via its cleavage by caspase in sympathetic neurons."
Cabrera J.R. , Bouzas-Rodriguez J. , Tauszig-Delamasure S. , Mehlen P.
J. Biol. Chem.286:14628-14638(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION IN CELL ADHESION;FUNCTION IN APOPTOSIS;PROTEOLYTIC PROCESSING BY CASPASE-3 AT ASP-707 AND ASP-1017;MUTAGENESIS OF ASP-707; LYS-758 AND 708-ALA--SER-1114;SUBUNIT
31.

"Focal adhesion kinase (FAK) binds RET kinase via its FERM domain, priming a direct and reciprocal RET-FAK transactivation mechanism."
Plaza-Menacho I. , Morandi A. , Mologni L. , Boender P. , Gambacorti-Passerini C. , Magee A.I. , Hofstra R.M.W. , Knowles P. , McDonald N.Q. , Isacke C.M.
J. Biol. Chem.286:17292-17302(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH PTK2/FAK1;FUNCTION IN PTK2/FAK1 PHOSPHORYLATION
32.

"Structure and chemical inhibition of the RET tyrosine kinase domain."
Knowles P.P. , Murray-Rust J. , Kjaer S. , Scott R.P. , Hanrahan S. , Santoro M. , Ibanez C.F. , McDonald N.Q.
J. Biol. Chem.281:33577-33587(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 705-1013 ALONE AND IN COMPLEX WITH INHIBITORS;IDENTIFICATION BY MASS SPECTROMETRY;PHOSPHORYLATION AT TYR-900 AND TYR-905
33.

"Synthesis, structure-activity relationship and crystallographic studies of 3-substituted indolin-2-one RET inhibitors."
Mologni L. , Rostagno R. , Brussolo S. , Knowles P.P. , Kjaer S. , Murray-Rust J. , Rosso E. , Zambon A. , Scapozza L. , McDonald N.Q. , Lucchini V. , Gambacorti-Passerini C.
Bioorg. Med. Chem.18:1482-1496(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 705-1013 IN COMPLEX WITH INHIBITORS;ENZYME REGULATION;PHOSPHORYLATION AT TYR-905
34.

"Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations."
Kjaer S. , Hanrahan S. , Totty N. , McDonald N.Q.
Nat. Struct. Mol. Biol.17:726-731(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 29-270;GLYCOSYLATION AT ASN-151;DISULFIDE BOND
35.

"Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype."
Hofstra R.M.W. , Osinga J. , Buys C.H.C.M.
Eur. J. Hum. Genet.5:180-185(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON HSCR VARIANTS
36.

"Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease."
Eng C. , Mulligan L.M.
Hum. Mutat.9:97-109(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
37.

"Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC."
Donis-Keller H. , Dou S. , Chi D. , Carlson K.M. , Toshima K. , Lairmore T.C. , Howe J.R. , Moley J.F. , Goodfellow P. , Wells S.A. Jr.
Hum. Mol. Genet.2:851-856(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MEN2A/MTC TRP-611; SER-618; ARG-620; TYR-620 AND ARG-634
38.

"Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A."
Mulligan L.M. , Kwok J.B.J. , Healey C.S. , Elsdon M.J. , Eng C. , Gardner E. , Love D.R. , Mole S.E. , Moore J.K. , Papi L. , Ponder M.A. , Telenius H. , Tunnacliffe A. , Ponder B.A.J.
Nature363:458-460(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MEN2A GLY-618; 632-ASP--ARG-634; GLY-634; PHE-634; TYR-634 AND SER-634
39.

"Heterogeneity and low detection rate of RET mutations in Hirschsprung disease."
Yin L. , Barone V. , Seri M. , Bolino A. , Bocciardi R. , Ceccherini I. , Pasini B. , Tocco T. , Lerone M. , Cywes S. , Moore S. , Vanderwinden J.-M. , Abramowicz M.J. , Kristoffersson U. , Larsson L.T. , Hamel B.C.J. , Silengo M. , Martucciello G. , more...
Eur. J. Hum. Genet.2:272-280(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 PRO-40; LEU-399; GLN-762; PRO-765; GLN-897; GLY-972 AND LEU-973
40.

"Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours."
Eng C. , Smith D.P. , Mulligan L.M. , Nagai M.A. , Healey C.S. , Ponder M.A. , Gardner E. , Scheumann G.F. , Jackson C.E. , Tunnacliffe A. , Ponder B.A.J.
Hum. Mol. Genet.3:237-241(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2B THR-918
41.

"Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests."
Xue F. , Yu H. , Maurer L.H. , Memoli V.A. , Nutile-Mcmenemy N. , Schuster M.K. , Browden D.W. , Mao J.-I. , Noll W.W.
Hum. Mol. Genet.3:635-638(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MEN2A/MTC ARG-618; SER-618; PHE-620; ARG-620; PHE-634; GLY-634 AND TYR-634
42.

"RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer."
Blaugrund J.E. , Johns M.M. Jr. , Eby Y.J. , Ball D.W. , Baylin S.B. , Hruban R.H. , Sidransky D.
Hum. Mol. Genet.3:1895-1897(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC/MEN2A TYR-609; ARG-618; SER-618 AND SER-620
43.

"RET proto-oncogene mutations in French MEN 2A and FMTC families."
Schuffenecker I. , Billaud M. , Calender A. , Chambe B. , Ginet N. , Calmettes C. , Modigliani E. , Lenoir G.M.
Hum. Mol. Genet.3:1939-1943(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC;VARIANTS MEN2A
44.

"Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene."
Mulligan L.M. , Eng C. , Attie T. , Lyonnet S. , Marsh D.J. , Hyland V.J. , Robinson B.G. , Frilling A. , Verellen-Dumoulin C. , Safar A. , Venter D.J. , Munnich A. , Ponder B.A.J.
Hum. Mol. Genet.3:2163-2167(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 TRP-609; ARG-618 AND ARG-620;VARIANT MEN2A ARG-618;VARIANT MTC ARG-620
45.

"A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma."
Hofstra R.M.W. , Landsvater R.M. , Ceccherini I. , Stulp R.P. , Stelwagen T. , Luo Y. , Pasini B. , Hoeppener J.W.M. , Ploos van Amstel H.K. , Romeo G. , Lips C.J.M. , Buys C.H.C.M.
Nature367:375-376(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2B THR-918
46.

"Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease."
Romeo G. , Ronchetto P. , Luo Y. , Barone V. , Seri M. , Ceccherini I. , Pasini B. , Bocciardi R. , Lerone M. , Kaarlainen H. , Martucciello G.
Nature367:377-378(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 PRO-765; GLN-897 AND GLY-972
47.

"Mutations of the RET proto-oncogene in Hirschsprung's disease."
Edery P. , Lyonnet S. , Mulligan L.M. , Pelet A. , Dow E. , Abel L. , Holder S. , Nihoul-Fkete C. , Ponder B.A.J. , Munnich A.
Nature367:378-380(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 LEU-32; LEU-64; GLN-330 AND LEU-393
48.

"Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B."
Carlson K.M. , Dou S. , Chi D. , Scavarda N. , Toshima K. , Jackson C.E. , Wells S.A. Jr. , Goodfellow P.J. , Donis-Keller H.
Proc. Natl. Acad. Sci. U.S.A.91:1579-1583(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2B THR-918
49.

"Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas."
Komminoth P. , Kunz E.K. , Matias-Guiu X. , Hiort O. , Christiansen G. , Colomer A. , Roth J. , Heitz P.U.
Cancer76:479-489(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC; MEN2A AND MEN2B
50.

"Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A)."
Takiguchi-Shirahama S. , Koyama K. , Miyauchi A. , Wakasugi T. , Oishi S. , Takami H. , Hikiji K. , Nakamura Y.
Hum. Genet.95:187-190(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MEN2A SER-618; SER-620; ARG-634 AND TYR-634
51.

"Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease."
Angrist M. , Bolk S. , Thiel B. , Puffenberger E.G. , Hofstra R.M.W. , Buys C.H.C.M. , Cass D.T. , Chakravarti A.
Hum. Mol. Genet.4:821-830(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 LEU-20; SER-93; GLN-330; TYR-609 AND ARG-620;VARIANT CYS-982
tissue: Blood.
52.

"Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease."
Attie T. , Pelet A. , Edery P. , Eng C. , Mulligan L.M. , Amiel J. , Boutrand L. , Beldjord C. , Nihoul-Fekete C. , Munnich A. , Ponder B.A.J. , Lyonnet S.
Hum. Mol. Genet.4:1381-1386(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1
tissue: Leukocyte.
53.

"Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B."
Kitamura Y. , Scavarda N. , Wells S.A. Jr. , Jackson C.E. , Goodfellow P.J.
Hum. Mol. Genet.4:1987-1988(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2B THR-918;VARIANT TYR-922
54.

"A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC."
Eng C. , Smith D.P. , Mulligan L.M. , Healey C.S. , Zvelebil M.J. , Stonehouse T.J. , Ponder M.A. , Jackson C.E. , Waterfield M.D. , Ponder B.A.J.
Oncogene10:509-513(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MTC ASP-768
55.

"RET mutations in exons 13 and 14 of FMTC patients."
Bolino A. , Schuffenecker I. , Luo Y. , Seri M. , Silengo M. , Tocco T. , Chabrier G. , Houdent C. , Murat A. , Schlumberger M. , Tournaire J. , Lenoir G.M. , Romeo G.
Oncogene10:2415-2419(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC ASP-768 AND LEU-804
56.

"Mutations in three genes are found associated with the development of Hirschsprung disease: RET, EDNRB and EDN3."
Hofstra R.M.W. , Osinga J. , Stulp R.P. , Scheffer H. , Meijers C. , Buys C.H.C.M.
Am. J. Hum. Genet.59:A263-A263(1996)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 TYR-157; LYS-359; TYR-609; ARG-620; ASN-1059 DEL AND PRO-1061
57.

"Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease."
Yin L. , Seri M. , Barone V. , Tocco T. , Scaranari M. , Romeo G.
Eur. J. Hum. Genet.4:356-358(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 PRO-40 AND PRO-765
58.

"Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A."
Landsvater R.M. , Jansen R.P.M. , Hofstra R.M.W. , Buys C.H.C.M. , Lips C.J.M. , van Amstel H.K.P.
Hum. Genet.97:11-14(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC/MEN2A
59.

"Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations."
Kambouris M. , Jackson C.E. , Feldman G.L.
Hum. Mutat.8:64-70(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MEN2A;VARIANT MTC ASP-768;VARIANT MEN2B THR-918
60.

"Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype."
Frank-Raue K. , Hoeppner W. , Frilling A. , Kotzerke J. , Dralle H. , Haase R. , Mann K. , Seif F. , Kirchner R. , Rendl J. , Deckart H.F. , Ritter M.M. , Hampel R. , Klempa J. , Scholz G.H. , Raue F. , Bogner U. , Brabant G. , more...
J. Clin. Endocrinol. Metab.81:1780-1783(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MEN2A
61.

"A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A."
Hoeppner W. , Ritter M.M.
Hum. Mol. Genet.6:587-590(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2A HIS-GLU-LEU-CYS-634 INS
62.

"Frequency of RET mutations in long- and short-segment Hirschsprung disease."
Seri M. , Yin L. , Barone V. , Bolino A. , Celli I. , Bocciardi R. , Pasini B. , Ceccherini I. , Lerone M. , Kristoffersson U. , Larsson L.T. , Casasa J.M. , Cass D.T. , Abramowicz M.J. , Vanderwinden J.-M. , Kravcenkiene I. , Baric I. , Silengo M. , more...
Hum. Mutat.9:243-249(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 PRO-180; GLN-313; ARG-620 AND PHE-791
63.

"Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting."
Peretz H. , Luboshitsky R. , Baron E. , Biton A. , Gershoni R. , Usher S. , Grynberg E. , Yakobson E. , Graff E. , Lapidot M.
Hum. Mutat.10:155-159(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MTC ARG-618;VARIANT HSCR1 ARG-618
64.

"Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation."
Gimm O. , Marsh D.J. , Andrew S.D. , Frilling A. , Dahia P.L.M. , Mulligan L.M. , Zajac J.D. , Robinson B.G. , Eng C.
J. Clin. Endocrinol. Metab.82:3902-3904(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2B PHE-883
tissue: Peripheral blood leukocyte.
65.

"A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma."
Hofstra R.M.W. , Fattoruso O. , Quadro L. , Wu Y. , Libroia A. , Verga U. , Colantuoni V. , Buys C.H.C.M.
J. Clin. Endocrinol. Metab.82:4176-4178(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MTC ALA-891
66.

"Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease."
Kusafuka T. , Wang Y. , Puri P.
J. Pediatr. Surg.32:501-504(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 SER-174 AND TYR-197
67.

"Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC."
Kitamura Y. , Goodfellow P.J. , Shimizu K. , Nagahama M. , Ito K. , Kitagawa W. , Akasu H. , Takami H. , Tanaka S. , Wells S.A. Jr.
Oncogene14:3103-3106(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC; MEN2A AND MEN2B;VARIANT SER-691
68.

"Germline mutation of RET codon 883 in two cases of de novo MEN 2B."
Smith D.P. , Houghton C. , Ponder B.A.J.
Oncogene15:1213-1217(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2B PHE-883
69.

"Mutations of the RET-GDNF signaling pathway in Ondine's curse."
Amiel J. , Salomon R. , Attie T. , Pelet A. , Trang H. , Mokhtari M. , Gaultier C. , Munnich A. , Lyonnet S.
Am. J. Hum. Genet.62:715-717(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CCHS LEU-1039;VARIANT SER-691
70.

"Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma."
Oriola J. , Paramo C. , Halperin I. , Garcia-Mayor R.V. , Rivera-Fillat F.
Am. J. Med. Genet.78:271-273(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MTC GLY-611
71.

"Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)."
Svensson P.J. , Anvret M. , Molander M.L. , Nordenskjold A.
Hum. Genet.103:145-148(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CYS-982
72.

"Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation."
Decker R.A. , Peacock M.L. , Watson P.
Hum. Mol. Genet.7:129-134(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MEN2A TYR-609; SER-618; ARG-620 AND TRP-620;VARIANTS HSCR1 TYR-609; SER-618; ARG-620 AND TRP-620
73.

"Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A."
Hoeppner W. , Dralle H. , Brabant G.
Hum. Mutat. Suppl.1:S128-S130(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2A CYS-ARG-THR-636 INS
74.

"A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma."
Fattoruso O. , Quadro L. , Libroia A. , Verga U. , Lupoli G. , Cascone E. , Colantuoni V.
Hum. Mutat. Suppl.1:S167-S171(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MTC MET-804
75.

"A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A."
Berndt I. , Reuter M. , Saller B. , Frank-Raue K. , Groth P. , Grussendorf M. , Raue F. , Ritter M.M. , Hoeppner W.
J. Clin. Endocrinol. Metab.83:770-774(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC/MEN2A PHE-790 AND PHE-791
76.

"Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma."
Shirahama S. , Ogura K. , Takami H. , Ito K. , Tohsen T. , Miyauchi A. , Nakamura Y.
J. Hum. Genet.43:101-106(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC AND MEN2A
77.

"Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease."
Auricchio A. , Griseri P. , Carpentieri M.L. , Betsos N. , Staiano A. , Tozzi A. , Priolo M. , Thompson H. , Bocciardi R. , Romeo G. , Ballabio A. , Ceccherini I.
Am. J. Hum. Genet.64:1216-1221(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 LYS-626 AND GLN-813
78.

"Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site."
Geneste O. , Bidaud C. , De Vita G. , Hofstra R.M.W. , Tartare-Deckert S. , Buys C.H.C.M. , Lenoir G.M. , Santoro M. , Billaud M.
Hum. Mol. Genet.8:1989-1999(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 ASN-1059 DEL AND PRO-1061
79.

"A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma."
Pigny P. , Bauters C. , Wemeau J.-L. , Houcke M.L. , Crepin M. , Caron P. , Giraud S. , Calender A. , Buisine M.-P. , Kerckaert J.-P. , Porchet N.
J. Clin. Endocrinol. Metab.84:1700-1704(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MTC GLU-GLU-CYS-531 INS
80.

"A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene."
Tessitore A. , Sinisi A.A. , Pasquali D. , Cardone M. , Vitale D. , Bellastella A. , Colantuoni V.
J. Clin. Endocrinol. Metab.84:3522-3527(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MEN2A GLY-640
81.

"A RET double mutation in the germline of a kindred with FMTC."
Bartsch D.K. , Hasse C. , Schug C. , Barth P. , Rothmund M. , Hoeppner W.
Exp. Clin. Endocrinol. Diabetes108:128-132(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC MET-804 AND LEU-844
82.

"A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?"
Saez M.E. , Ruiz A. , Cebrian A. , Morales F. , Robledo M. , Antinolo G. , Borrego S.
Hum. Mutat.15:122-122(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLN-600
83.

"A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus."
Bolk S. , Pelet A. , Hofstra R.M.W. , Angrist M. , Salomon R. , Croaker D. , Buys C.H.C.M. , Lyonnet S. , Chakravarti A.
Proc. Natl. Acad. Sci. U.S.A.97:268-273(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 LEU-32; CYS-77; TRP-360 AND LYS-394
84.

"Three novel mutations in the RET proto-oncogene."
Kalinin V.N. , Amosenko F.A. , Shabanov M.A. , Lubchenko L.N. , Hosch S.B. , Garkavtseva R.F. , Izbicki J.R.
J. Mol. Med.79:609-612(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MTC GLY-639; GLY-641 AND PHE-922
85.

"Germ-line mutations in nonsyndromic pheochromocytoma."
The Freiburg-Warsaw-Columbus pheochromocytoma study group , Neumann H.P.H. , Bausch B. , McWhinney S.R. , Bender B.U. , Gimm O. , Franke G. , Schipper J. , Klisch J. , Altehoefer C. , Zerres K. , Januszewicz A. , Smith W.M. , Munk R. , Manz T. , Glaesker S. , Apel T.W. , Treier M. , more...
N. Engl. J. Med.346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PHEOCHROMOCYTOMA ARG-634; GLY-634; TYR-634; SER-634; PHE-634; TRP-634 AND PHE-791
86.

"Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case."
Kanai M. , Numakura C. , Sasaki A. , Shirahata E. , Akaba K. , Hashimoto M. , Hasegawa H. , Shirasawa S. , Hayasaka K.
Tohoku J. Exp. Med.196:241-246(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CCHS HIS-114
87.

"Molecular analysis of congenital central hypoventilation syndrome."
Sasaki A. , Kanai M. , Kijima K. , Akaba K. , Hashimoto M. , Hasegawa H. , Otaki S. , Koizumi T. , Kusuda S. , Ogawa Y. , Tuchiya K. , Yamamoto W. , Nakamura T. , Hayasaka K.
Hum. Genet.114:22-26(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ASN-489; SER-691 AND CYS-982;VARIANTS CCHS HIS-67; HIS-114 AND GLU-432
88.

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , more...
Science314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-145; TRP-360 AND GLU-593
89.

"Patterns of somatic mutation in human cancer genomes."
Greenman C. , Stephens P. , Smith R. , Dalgliesh G.L. , Hunter C. , Bignell G. , Davies H. , Teague J. , Butler A. , Stevens C. , Edkins S. , O'Meara S. , Vastrik I. , Schmidt E.E. , Avis T. , Barthorpe S. , Bhamra G. , Buck G. , more...
Nature446:153-158(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-163; ASN-278; MET-292; ASN-489; SER-691; THR-749; SER-826; LEU-844; CYS-982 AND TYR-1112
90.

"Renal aplasia in humans is associated with RET mutations."
Skinner M.A. , Safford S.D. , Reeves J.G. , Jackson M.E. , Freemerman A.J.
Am. J. Hum. Genet.82:344-351(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS THR-198; ALA-376; HIS-394; ILE-778; SER-894; THR-918; LEU-1049 AND SER-1067;POSSIBLE INVOLVEMENT IN RENAL AGENESIS;CHARACTERIZATION OF VARIANTS THR-198; ALA-376; HIS-394; ILE-778; SER-894; LEU-1049 AND SER-1067
91.

"RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients."
So M.T. , Leon T.Y. , Cheng G. , Tang C.S. , Miao X.P. , Cornes B.K. , Diem N.N. , Cui L. , Ngan E.S. , Lui V.C. , Wu X.Z. , Wang B. , Wang H. , Yuan Z.W. , Huang L.M. , Li L. , Xia H. , Zhu D. , more...
PLoS ONE6:E28986-E28986(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HSCR1 549-LYS-GLY-550 DEL; CYS-114; HIS-114; GLY-145; LEU-155; PRO-175; ALA-278; PRO-278; ASN-300; GLN-313; ILE-316; LEU-339; TYR-353; GLN-360; MET-397; MET-412; ARG-423; LYS-480; GLN-595; LEU-679; GLN-694; SER-783; ARG-830; THR-907; LEU-961; VAL-1052; CYS-1062 AND THR-1064;VARIANTS ASN-278 AND MET-292

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