[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANTS MEN1 ARG-22; LYS-119 DEL; GLU-368 DEL AND ARG-441, AND VARIANT GLN-176.
TISSUE=Leukocyte;
DOI=10.1126/science.276.5311.404; PubMed=9103196 [NCBI, ExPASy, EBI, Israel, Japan]
Chandrasekharappa S.C.,
Guru S.C.,
Manickam P.,
Olufemi S.-E.,
Collins F.S.,
Emmert-Buck M.R.,
Debelenko L.V.,
Zhuang Z.,
Lubensky I.A.,
Liotta L.A.,
Crabtree J.S.,
Wang Y.,
Roe B.A.,
Weisemann J.,
Boguski M.S.,
Agarwal S.K.,
Kester M.B.,
Kim Y.S.,
Heppner C.,
Dong Q.,
Spiegel A.M.,
Burns A.L.,
Marx S.J.;
"Positional cloning of the gene for multiple endocrine neoplasia-type 1.";
Science 276:404-407(1997).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH FANCD2.
PubMed=12874027 [NCBI, ExPASy, EBI, Israel, Japan]
Jin S.,
Mao H.,
Schnepp R.W.,
Sykes S.M.,
Silva A.C.,
D'Andrea A.D.,
Hua X.;
"Menin associates with FANCD2, a protein involved in repair of DNA damage.";
Cancer Res. 63:4204-4210(2003).
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[4]
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INTERACTION WITH DBF4.
DOI=10.1158/0008-5472.CAN-04-0724; PubMed=15374998 [NCBI, ExPASy, EBI, Israel, Japan]
Schnepp R.W.,
Hou Z.,
Wang H.,
Petersen C.,
Silva A.,
Masai H.,
Hua X.;
"Functional interaction between tumor suppressor menin and activator of S-phase kinase.";
Cancer Res. 64:6791-6796(2004).
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[5]
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IDENTIFICATION IN THE MLL-LIKE COMPLEX.
DOI=10.1128/MCB.24.13.5639-5649.2004; PubMed=15199122 [NCBI, ExPASy, EBI, Israel, Japan]
Yokoyama A.,
Wang Z.,
Wysocka J.,
Sanyal M.,
Aufiero D.J.,
Kitabayashi I.,
Herr W.,
Cleary M.L.;
"Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.";
Mol. Cell. Biol. 24:5639-5649(2004).
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[6]
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IDENTIFICATION IN THE MLL-LIKE COMPLEX.
DOI=10.1074/jbc.M701574200; PubMed=17500065 [NCBI, ExPASy, EBI, Israel, Japan]
Cho Y.-W.,
Hong T.,
Hong S.,
Guo H.,
Yu H.,
Kim D.,
Guszczynski T.,
Dressler G.R.,
Copeland T.D.,
Kalkum M.,
Ge K.;
"PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.";
J. Biol. Chem. 282:20395-20406(2007).
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[7]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-399, AND MASS SPECTROMETRY.
DOI=10.1126/science.1140321; PubMed=17525332 [NCBI, ExPASy, EBI, Israel, Japan]
Matsuoka S.,
Ballif B.A.,
Smogorzewska A.,
McDonald E.R. III,
Hurov K.E.,
Luo J.,
Bakalarski C.E.,
Zhao Z.,
Solimini N.,
Lerenthal Y.,
Shiloh Y.,
Gygi S.P.,
Elledge S.J.;
"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.";
Science 316:1160-1166(2007).
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[8]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-599, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.0805139105; PubMed=18669648 [NCBI, ExPASy, EBI, Israel, Japan]
Dephoure N.,
Zhou C.,
Villen J.,
Beausoleil S.A.,
Bakalarski C.E.,
Elledge S.J.,
Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
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[9]
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VARIANTS MEN1.
DOI=10.1093/hmg/6.7.1169; PubMed=9215689 [NCBI, ExPASy, EBI, Israel, Japan]
Agarwal S.K.,
Kester M.B.,
Debelenko L.V.,
Heppner C.,
Emmert-Buck M.R.,
Skarulis M.C.,
Doppman J.L.,
Kim Y.S.,
Lubensky I.A.,
Zhuang Z.,
Green J.S.,
Guru S.C.,
Manickam P.,
Olufemi S.E.,
Liotta L.A.,
Chandrasekharappa S.C.,
Collins F.S.,
Spiegel A.M.,
Burns A.L.,
Marx S.J.;
"Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.";
Hum. Mol. Genet. 6:1169-1175(1997).
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[10]
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VARIANT MEN1 SER-188, AND VARIANT GLN-176.
DOI=10.1093/hmg/6.7.1177; PubMed=9215690 [NCBI, ExPASy, EBI, Israel, Japan] The european consortium on MEN1;
Lemmens I.,
Van de Ven W.J.M.,
Kas K.,
Zhang C.X.,
Giraud S.,
Wautot V.,
Buisson N.,
De Witte K.,
Salandre J.,
Lenoir G.,
Pugeat M.,
Calender A.,
Parente F.,
Quincey D.,
Gaudray P.,
De Wit M.J.,
Lips C.J.M.,
Hoeppener J.W.M.,
Khodaei S.,
Grant A.L.,
Weber G.,
Kytoelae S.,
Teh B.T.,
Farnebo F.,
Phelan C.,
Hayward N.,
Larsson C.,
Pannett A.A.J.,
Forbes S.A.,
Basset J.H.D.,
Thakker R.V.;
"Identification of the multiple endocrine neoplasia type 1 (MEN1) gene.";
Hum. Mol. Genet. 6:1177-1183(1997).
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[11]
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VARIANT PARATHYROID ADENOMA LYS-26.
DOI=10.1038/ng0897-375; PubMed=9241276 [NCBI, ExPASy, EBI, Israel, Japan]
Heppner C.,
Kester M.B.,
Agarwal S.K.,
Debelenko L.V.,
Emmert-Buck M.R.,
Guru S.C.,
Manickam P.,
Olufemi S.-E.,
Skarulis M.C.,
Doppman J.L.,
Alexander R.H.,
Kim Y.S.,
Saggar S.K.,
Lubensky I.A.,
Zhuang Z.,
Liotta L.A.,
Chandrasekharappa S.C.,
Collins F.S.,
Spiegel A.M.,
Burns A.L.,
Marx S.J.;
"Somatic mutation of the MEN1 gene in parathyroid tumours.";
Nat. Genet. 16:375-378(1997).
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[12]
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VARIANTS MEN1 ASP-42; PRO-165; ASP-169; SER-188 AND GLU-289.
DOI=10.1086/301729; PubMed=9463336 [NCBI, ExPASy, EBI, Israel, Japan]
Bassett J.H.D.,
Forbes S.A.,
Pannett A.A.J.,
Lloyd S.E.,
Christie P.T.,
Wooding C.,
Harding B.,
Besser G.M.,
Edwards C.R.,
Monson J.P.,
Sampson J.,
Wass J.A.H.,
Wheeler M.H.,
Thakker R.V.;
"Characterization of mutations in patients with multiple endocrine neoplasia type 1.";
Am. J. Hum. Genet. 62:232-244(1998).
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[13]
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VARIANTS MEN1.
DOI=10.1086/301953; PubMed=9683585 [NCBI, ExPASy, EBI, Israel, Japan]
Giraud S.,
Zhang C.X.,
Serova-Sinilnikova O.,
Wautot V.,
Salandre J.,
Buisson N.,
Waterlot C.,
Bauters C.,
Porchet N.,
Aubert J.-P.,
Emy P.,
Cadiot G.,
Delemer B.,
Chabre O.,
Niccoli P.,
Leprat F.,
Duron F.,
Emperauger B.,
Cougard P.,
Goudet P.,
Sarfati E.,
Riou J.-P.,
Guichard S.,
Rodier M.,
Meyrier A.,
Caron P.,
Vantyghem M.-C.,
Assayag M.,
Peix J.-L.,
Pugeat M.,
Rohmer V.,
Vallotton M.,
Lenoir G.,
Gaudray P.,
Proye C.,
Conte-Devolx B.,
Chanson P.,
Shugart Y.Y.,
Goldgar D.,
Murat A.,
Calender A.;
"Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.";
Am. J. Hum. Genet. 63:455-467(1998).
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[14]
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VARIANT FIHP LYS-260.
DOI=10.1086/302097; PubMed=9792884 [NCBI, ExPASy, EBI, Israel, Japan]
Teh B.T.,
Esapa C.T.,
Houlston R.,
Grandell U.,
Farnebo F.,
Nordenskjoeld M.,
Pearce C.J.,
Carmichael D.,
Larsson C.,
Harris P.E.;
"A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.";
Am. J. Hum. Genet. 63:1544-1549(1998).
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[15]
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VARIANT FIHP GLU-189.
DOI=10.1002/(SICI)1096-8628(19981116)80:3<221::AID-AJMG8>3.0.CO;2-1; PubMed=9843042 [NCBI, ExPASy, EBI, Israel, Japan]
Fujimori M.,
Shirahama S.,
Sakurai A.,
Hashizume K.,
Hama Y.,
Ito K.,
Shingu K.,
Kobayashi S.,
Amano J.,
Fukushima Y.;
"Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.";
Am. J. Med. Genet. 80:221-222(1998).
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[16]
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VARIANTS MEN1 LYS-26 AND PRO-173.
DOI=10.1530/eje.0.1390416; PubMed=9820618 [NCBI, ExPASy, EBI, Israel, Japan]
Bartsch D.,
Kopp I.,
Bergenfelz A.,
Rieder H.,
Muench K.,
Jaeger K.,
Deiss Y.,
Schudy A.,
Barth P.,
Arnold R.,
Rothmund M.,
Simon B.;
"MEN1 gene mutations in 12 MEN1 families and their associated tumors.";
Eur. J. Endocrinol. 139:416-420(1998).
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[17]
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VARIANTS MEN1.
DOI=10.1002/(SICI)1098-1004(1998)12:2<75::AID-HUMU1>3.0.CO;2-T; PubMed=9671267 [NCBI, ExPASy, EBI, Israel, Japan]
Agarwal S.K.,
Debelenko L.V.,
Kester M.B.,
Guru S.C.,
Manickam P.,
Olufemi S.-E.,
Skarulis M.C.,
Heppner C.,
Crabtree J.S.,
Lubensky I.A.,
Zhuang Z.,
Kim Y.S.,
Chandrasekharappa S.C.,
Collins F.S.,
Liotta L.A.,
Spiegel A.M.,
Burns A.L.,
Emmert-Buck M.R.,
Marx S.J.;
"Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.";
Hum. Mutat. 12:75-82(1998).
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[18]
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VARIANT MEN1 ARG-432.
PubMed=10660339 [NCBI, ExPASy, EBI, Israel, Japan]
Cote G.J.,
Lee J.E.,
Evans D.B.,
Huang E.,
Schultz P.N.,
Dang G.T.,
Qiu H.,
Shetelbine S.,
Sellin R.V.,
Gagel R.F.;
"Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene.";
Hum. Mutat. 12:219-219(1998).
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[19]
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VARIANT MEN1 LEU-325, AND VARIANT THR-546.
DOI=10.1210/jc.83.3.960; PubMed=9506756 [NCBI, ExPASy, EBI, Israel, Japan]
Tanaka C.,
Yoshimoto K.,
Yamada S.,
Nishioka H.,
Ii S.,
Moritani M.,
Yamaoka T.,
Itakura M.;
"Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.";
J. Clin. Endocrinol. Metab. 83:960-965(1998).
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[20]
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VARIANT MEN1 ASN-423, AND VARIANTS GLN-176 AND THR-546.
DOI=10.1210/jc.83.8.2621; PubMed=9709921 [NCBI, ExPASy, EBI, Israel, Japan]
Teh B.T.,
Kytoelae S.,
Farnebo F.,
Bergman L.,
Wong F.K.,
Weber G.,
Hayward N.,
Larsson C.,
Skogseid B.,
Beckers A.,
Phelan C.,
Edwards M.,
Epstein M.,
Alford F.,
Hurley D.,
Grimmond S.,
Silins G.,
Walters M.,
Stewart C.,
Cardinal J.,
Khodaei S.,
Parente F.,
Tranebjaerg L.,
Jorde R.,
Menon J.,
Khir A.,
Tan T.T.,
Chan S.P.,
Zaini A.,
Khalid B.A.K.,
Sandelin K.,
Thompson N.,
Brandi M.-L.,
Warth M.,
Stock J.,
Leisti J.,
Cameron D.,
Shepherd J.J.,
Oeberg K.,
Nordenskjoeld M.,
Salmela P.;
"Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.";
J. Clin. Endocrinol. Metab. 83:2621-2626(1998).
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[21]
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VARIANT MEN1 SER-428.
DOI=10.1210/jc.83.8.3004; PubMed=9709985 [NCBI, ExPASy, EBI, Israel, Japan]
Mayr B.,
Brabant G.,
von zur Muehlen A.;
"Menin mutations in MEN1 patients.";
J. Clin. Endocrinol. Metab. 83:3004-3005(1998).
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[22]
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VARIANTS MEN1 ILE-135 AND LYS-364.
DOI=10.1046/j.1523-1747.1998.00317.x; PubMed=9740255 [NCBI, ExPASy, EBI, Israel, Japan]
Boeni R.,
Vortmeyer A.O.,
Pack S.,
Park W.-S.,
Burg G.,
Hofbauer G.,
Darling T.,
Liotta L.,
Zhuang Z.;
"Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.";
J. Invest. Dermatol. 111:539-540(1998).
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[23]
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VARIANTS MEN1 LYS-119 DEL AND 171-GLN--LEU-173 DEL.
DOI=10.1007/s100380050070; PubMed=9747036 [NCBI, ExPASy, EBI, Israel, Japan]
Sakurai A.,
Shirahama S.,
Fujimori M.,
Katai M.,
Itakura Y.,
Kobayashi S.,
Amano J.,
Fukushima Y.,
Hashizume K.;
"Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.";
J. Hum. Genet. 43:199-201(1998).
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[24]
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VARIANT MEN1 GLY-45.
PubMed=9832038 [NCBI, ExPASy, EBI, Israel, Japan]
Sato M.,
Matsubara S.,
Miyauchi A.,
Ohye H.,
Imachi H.,
Murao K.,
Takahara J.;
"Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.";
J. Med. Genet. 35:915-919(1998).
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[25]
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VARIANT MEN1 ARG-139.
DOI=10.1097/00019606-199912000-00005; PubMed=10617276 [NCBI, ExPASy, EBI, Israel, Japan]
Martin-Campos J.M.,
Catasus L.,
Chico A.,
Mayoral C.,
Lagarda E.,
Gallart L.,
Mato E.,
Rodriguez-Espinosa J.,
Matias-Guiu X.,
De Leiva A.,
Blanco-Vaca F.;
"Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.";
Diagn. Mol. Pathol. 8:195-204(1999).
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[26]
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VARIANT MEN1 PRO-449.
DOI=10.1530/eje.0.1400429; PubMed=10229909 [NCBI, ExPASy, EBI, Israel, Japan]
Cetani F.,
Pardi E.,
Cianferotti L.,
Vignali E.,
Picone A.,
Miccoli P.,
Pinchera A.,
Marcocci C.;
"A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1.";
Eur. J. Endocrinol. 140:429-433(1999).
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[27]
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VARIANTS MEN1 ARG-188; ARG-230; TYR-246 AND PRO-258, AND VARIANT THR-546.
DOI=10.1530/eje.0.1410475; PubMed=10576763 [NCBI, ExPASy, EBI, Israel, Japan]
Hai N.,
Aoki N.,
Matsuda A.,
Mori T.,
Kosugi S.;
"Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).";
Eur. J. Endocrinol. 141:475-480(1999).
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[28]
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VARIANT ADRENAL ADENOMA SER-557.
DOI=10.1007/s004390051152; PubMed=10647896 [NCBI, ExPASy, EBI, Israel, Japan]
Schulte K.-M.,
Heinze M.,
Mengel M.,
Simon D.,
Scheuring S.,
Koehrer K.,
Roeher H.-D.;
"MEN I gene mutations in sporadic adrenal adenomas.";
Hum. Genet. 105:603-610(1999).
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[29]
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VARIANTS MEN1 TRP-39; TYR-177; ASP-184 AND PRO-269, VARIANT FIHP PRO-272, AND VARIANTS GLN-176 AND THR-546.
DOI=10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K; PubMed=9888389 [NCBI, ExPASy, EBI, Israel, Japan]
Poncin J.,
Abs R.,
Velkeniers B.,
Bonduelle M.,
Abramowicz M.,
Legros J.-J.,
Verloes A.,
Meurisse M.,
van Gaal L.,
Verellen C.,
Koulischer L.,
Beckers A.;
"Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.";
Hum. Mutat. 13:54-60(1999).
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[30]
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VARIANTS MEN1 ASP-161 AND ARG-246.
DOI=10.1002/(SICI)1098-1004(1999)13:3<175::AID-HUMU1>3.3.CO;2-I; PubMed=10090472 [NCBI, ExPASy, EBI, Israel, Japan]
Mutch M.G.,
Dilley W.G.,
Sanjurjo F.,
Debenedetti M.K.,
Doherty G.M.,
Wells S.A. Jr.,
Goodfellow P.J.,
Lairmore T.C.;
"Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.";
Hum. Mutat. 13:175-185(1999).
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[31]
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VARIANT MEN1 PHE-160.
PubMed=10534569 [NCBI, ExPASy, EBI, Israel, Japan]
Engelbach M.,
Forst T.,
Hankeln T.,
Tratzky M.,
Heerdt S.,
Pfuetzner A.,
Kann P.,
Kunt T.,
Schneider S.,
Schmidt E.R.,
Beyer J.;
"Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.";
Int. J. Mol. Med. 4:483-485(1999).
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[32]
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VARIANTS MEN1 LEU-234; ASP-358; SER-378 AND PRO-420.
DOI=10.1054/bjoc.2000.1380; PubMed=10993647 [NCBI, ExPASy, EBI, Israel, Japan]
Bergman L.,
Teh B.T.,
Cardinal J.,
Palmer J.,
Walters M.,
Shepherd J.,
Cameron D.,
Hayward N.;
"Identification of MEN1 gene mutations in families with MEN 1 and related disorders.";
Br. J. Cancer 83:1009-1014(2000).
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[33]
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VARIANTS PARATHYROID TUMOR ASP-161; ARG-188; TRP-258; ALA-279 AND PRO-289.
PubMed=11034102 [NCBI, ExPASy, EBI, Israel, Japan]
Uchino S.,
Noguchi S.,
Sato M.,
Yamashita H.,
Yamashita H.,
Watanabe S.,
Murakami T.,
Toda M.,
Ohshima A.,
Futata T.,
Mizukoshi T.,
Koike E.,
Takatsu K.,
Terao K.,
Wakiya S.,
Nagatomo M.,
Adachi M.;
"Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.";
Cancer Res. 60:5553-5557(2000).
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[34]
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VARIANTS MEN1 TRP-39; LYS-119 DEL; GLN-184; PRO-228; ARG-322; PRO-342; ASN-353; VAL-390 AND SER-549.
DOI=10.1046/j.1365-2362.2000.00664.x; PubMed=10849016 [NCBI, ExPASy, EBI, Israel, Japan]
Roijers J.F.M.,
de Wit M.J.,
van der Luijt R.B.,
Ploos van Amstel H.K.,
Hoeppener J.W.M.,
Lips C.J.M.;
"Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.";
Eur. J. Clin. Invest. 30:487-492(2000).
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[35]
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VARIANTS MEN1 LYS-45; MET-220 AND ARG-349.
DOI=10.1530/eje.0.1420131; PubMed=10664520 [NCBI, ExPASy, EBI, Israel, Japan]
Morelli A.,
Falchetti A.,
Martineti V.,
Becherini L.,
Mark M.,
Friedman E.,
Brandi M.L.;
"MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.";
Eur. J. Endocrinol. 142:131-137(2000).
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[36]
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VARIANT FIHP ASP-310.
DOI=10.1530/eje.0.1420138; PubMed=10664521 [NCBI, ExPASy, EBI, Israel, Japan]
Honda M.,
Tsukada T.,
Tanaka H.,
Maruyama K.,
Yamaguchi K.,
Obara T.,
Yamaji T.,
Ishibashi M.;
"A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.";
Eur. J. Endocrinol. 142:138-143(2000).
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[37]
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VARIANT MEN1 LYS-184.
DOI=10.1002/1098-1004(200012)16:6<533::AID-HUMU22>3.0.CO;2-5; PubMed=11102994 [NCBI, ExPASy, EBI, Israel, Japan]
Weinhaeusel A.,
Vierhapper H.,
Schlegl R.,
Wagner T.,
Muhr D.,
Scheuba C.,
Niederle B.,
Haas O.A.;
"A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1).";
Hum. Mutat. 16:533-533(2000).
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[38]
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VARIANT FIHP PRO-265.
DOI=10.1210/jc.85.1.165; PubMed=10634381 [NCBI, ExPASy, EBI, Israel, Japan]
Kassem M.,
Kruse T.A.,
Wong F.K.,
Larsson C.,
Teh B.T.;
"Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.";
J. Clin. Endocrinol. Metab. 85:165-167(2000).
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[39]
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VARIANT MEN1 ASP-139.
DOI=10.1210/jc.85.12.4776; PubMed=11134142 [NCBI, ExPASy, EBI, Israel, Japan]
Stratakis C.A.,
Schussheim D.H.,
Freedman S.M.,
Keil M.F.,
Pack S.D.,
Agarwal S.K.,
Skarulis M.C.,
Weil R.J.,
Lubensky I.A.,
Zhuang Z.,
Oldfield E.H.,
Marx S.J.;
"Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.";
J. Clin. Endocrinol. Metab. 85:4776-4780(2000).
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[40]
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VARIANT MEN1 PRO-419.
DOI=10.1002/humu.12; PubMed=11241849 [NCBI, ExPASy, EBI, Israel, Japan]
Asteria C.,
Faglia G.,
Roncoroni R.,
Borretta G.,
Ribotto P.,
Beck-Peccoz P.;
"Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: additional information for mutational screening.";
Hum. Mutat. 17:237-237(2001).
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[41]
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VARIANTS MEN1 TRP-39; ASP-42; LEU-98; PRO-165; THR-165; PHE-167; ASP-169; ARG-170; TYR-177; PRO-228; PHE-245; ARG-286; PRO-316; PRO-319; TYR-322; ARG-322; ASP-342; ARG-346; HIS-362; ASP-373; MET-377; ASN-423; CYS-532; ASN-560 AND ARG-560.
DOI=10.1002/humu.10092; PubMed=12112656 [NCBI, ExPASy, EBI, Israel, Japan]
Wautot V.,
Vercherat C.,
Lespinasse J.,
Chambe B.,
Lenoir G.M.,
Zhang C.X.,
Porchet N.,
Cordier M.,
Beroud C.,
Calender A.;
"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.";
Hum. Mutat. 20:35-47(2002).
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[42]
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VARIANT MEN1 LEU-GLN-266 INS.
DOI=10.1093/jjco/hyf079; PubMed=12417605 [NCBI, ExPASy, EBI, Israel, Japan]
Okamoto H.,
Tamada A.,
Hai N.,
Doi M.,
Uchimura I.,
Hirata Y.,
Kosugi S.;
"A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.";
Jpn. J. Clin. Oncol. 32:368-370(2002).
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[43]
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VARIANTS MEN1 LYS-119 DEL; ILE-159; GLU-368 DEL AND ASN-423.
DOI=10.1210/jc.87.6.2688; PubMed=12050235 [NCBI, ExPASy, EBI, Israel, Japan]
Turner J.J.O.,
Leotlela P.D.,
Pannett A.A.J.,
Forbes S.A.,
Bassett J.H.D.,
Harding B.,
Christie P.T.,
Bowen-Jones D.,
Ellard S.,
Hattersley A.,
Jackson C.E.,
Pope R.,
Quarrell O.W.,
Trembath R.,
Thakker R.V.;
"Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.";
J. Clin. Endocrinol. Metab. 87:2688-2693(2002).
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[44]
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VARIANT FIHP HIS-282.
DOI=10.1007/s00268-002-6617-9; PubMed=12016470 [NCBI, ExPASy, EBI, Israel, Japan]
Perrier N.D.,
Villablanca A.,
Larsson C.,
Wong M.,
Ituarte P.,
Teh B.T.,
Clark O.H.;
"Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.";
World J. Surg. 26:907-913(2002).
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[45]
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VARIANTS FIHP VAL-158 AND PRO-416.
DOI=10.1046/j.1365-2265.2003.01765.x; PubMed=12699448 [NCBI, ExPASy, EBI, Israel, Japan]
Pannett A.A.J.,
Kennedy A.M.,
Turner J.J.O.,
Forbes S.A.,
Cavaco B.M.,
Bassett J.H.D.,
Cianferotti L.,
Harding B.,
Shine B.,
Flinter F.,
Maidment C.G.H.,
Trembath R.,
Thakker R.V.;
"Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.";
Clin. Endocrinol. (Oxf.) 58:639-646(2003).
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[46]
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VARIANT MEN1 PRO-330.
DOI=10.1034/j.1399-0004.2003.00091.x; PubMed=12791038 [NCBI, ExPASy, EBI, Israel, Japan]
Park J.-H.,
Kim I.-J.,
Kang H.C.,
Lee S.-H.,
Shin Y.,
Kim K.-H.,
Lim S.-B.,
Kang S.-B.,
Lee K.U.,
Kim S.Y.,
Lee M.-S.,
Lee M.-K.,
Park J.-H.,
Moon S.-D.,
Park J.-G.;
"Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.";
Clin. Genet. 64:48-53(2003).
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[47]
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VARIANTS MEN1 ARG-170; PRO-228; PHE-246; ARG-286; PRO-316; TYR-322; ASN-423 AND SER-545.
DOI=10.1002/elps.200390023; PubMed=12652570 [NCBI, ExPASy, EBI, Israel, Japan] Groupe d'etude des neoplasies emdocriniennes multiples;
Crepin M.,
Escande F.,
Pigny P.,
Buisine M.-P.,
Calender A.,
Porchet N.,
Odou M.-F.;
"Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.";
Electrophoresis 24:26-33(2003).
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[48]
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VARIANT MEN1 PRO-347.
PubMed=14686752 [NCBI, ExPASy, EBI, Israel, Japan]
Ukita C.,
Yamaguchi M.,
Tanaka T.,
Shigeta H.,
Nishikawa M.;
"A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.";
Intern. Med. 42:1112-1116(2003).
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[49]
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VARIANTS MEN1 LYS-45 AND PRO-139, AND VARIANTS GLN-176 AND THR-546.
DOI=10.1136/jmg.40.5.e72; PubMed=12746426 [NCBI, ExPASy, EBI, Israel, Japan]
Cebrian A.,
Ruiz-Llorente S.,
Cascon A.,
Pollan M.,
Diez J.J.,
Pico A.,
Telleria D.,
Benitez J.,
Robledo M.;
"Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.";
J. Med. Genet. 40:E72-E72(2003).
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[50]
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VARIANTS MEN1 GLU-110 AND HIS-423.
DOI=10.1111/j.1365-2265.2005.02219.x; PubMed=15730416 [NCBI, ExPASy, EBI, Israel, Japan]
Jap T.-S.,
Chiu C.-Y.,
Won J.G.-S.,
Wu Y.-C.,
Chen H.-S.;
"Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.";
Clin. Endocrinol. (Oxf.) 62:336-342(2005).
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[51]
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VARIANTS MEN1 VAL-144; ASP-161; ASP-184; LYS-184; ARG-186; MET-220; ARG-264; ARG-325; TRP-360; TYR-426; CYS-441 AND ARG-441.
DOI=10.1097/01.GIM.0000153663.62300.F8; PubMed=15714081 [NCBI, ExPASy, EBI, Israel, Japan]
Klein R.D.,
Salih S.,
Bessoni J.,
Bale A.E.;
"Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.";
Genet. Med. 7:131-138(2005).
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