MEN1

MEN1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3U84, 3U85, 3U86, 3U88, 4GPQ, 4GQ3, 4GQ4, 4I80, 4OG3, 4OG4, 4OG5, 4OG6, 4OG7, 4OG8, 4X5Y, 4X5Z, 5DDF, 5DD9, 5DDA, 5DDE, 5DDB, 5DDD, 5DDC, 5DB0, 5DB3, 5DB1, 5DB2
Identifikatori
Aliasi	MEN1
Vanjski ID-jevi	OMIM: 613733 MGI: 1316736 HomoloGene: 7418 GeneCards: MEN1
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	64,811,294 bp
Lokacija gena (miš)
Hrom.	Hromosom 19 (miš)
Kraj	6,390,921 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje sa DNK; • protein-macromolecule adaptor activity; • R-SMAD binding; • protein N-terminus binding; • chromatin binding; • histone-lysine N-methyltransferase activity; • GO:0001948, GO:0016582 vezivanje za proteine; • four-way junction DNA binding; • Y-form DNA binding; • double-stranded DNA binding;
Ćelijska komponenta	• citoplazma; • citosol; • nuclear matrix; • nukleoplazma; • Hromatin; • cleavage furrow; • jedro; • histone methyltransferase complex; • endoplasmic reticulum lumen; • GO:0009327 makromolekulani kompleks;
Biološki proces	• negative regulation of cell-substrate adhesion; • GO:0033128 negative regulation of protein phosphorylation; • positive regulation of transforming growth factor beta receptor signaling pathway; • GO:0009373 regulation of transcription, DNA-templated; • negative regulation of cyclin-dependent protein serine/threonine kinase activity; • negative regulation of telomerase activity; • negative regulation of cell cycle; • regulation of activin receptor signaling pathway; • GO:1901227 negative regulation of transcription by RNA polymerase II; • negative regulation of DNA-binding transcription factor activity; • negative regulation of osteoblast differentiation; • negative regulation of cell cycle G1/S phase transition; • MAPK cascade; • cellular response to DNA damage stimulus; • negative regulation of JNK cascade; • brain development; • cellular response to peptide hormone stimulus; • decidualization; • negative regulation of epithelial cell proliferation; • GO:0007067 Mitoza; • osteoblast development; • positive regulation of protein binding; • GO:0045996 negative regulation of transcription, DNA-templated; • response to gamma radiation; • response to UV; • type B pancreatic cell differentiation; • GO:0100026 Popravka DNK; • regulation of type B pancreatic cell proliferation; • cellular response to glucose stimulus; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • negative regulation of cell population proliferation; • response to transforming growth factor beta; • histone lysine methylation; • beta-catenin-TCF complex assembly; • transcription, DNA-templated; • Posttranslacione modifikacije; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization;
	Izvori:Amigo / QuickGO
Ortolozi
	4221
	17283
	ENSG00000133895
	ENSMUSG00000024947
	O00255
	O88559
NM_000244; NM_130799; NM_130800; NM_130801; NM_130802;
	NM_130803; NM_130804; NM_001370251; NM_001370259; NM_001370260; NM_001370261; NM_001370262; NM_001370263
	NM_001168488; NM_001168489; NM_001168490; NM_008583
NP_000235; NP_570711; NP_570712; NP_570713; NP_570714;
	NP_570715; NP_570716; NP_001357180; NP_001357188; NP_001357189; NP_001357190; NP_001357191; NP_001357192
	NP_001161960; NP_001161961; NP_001161962; NP_032609
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Menin ie protein koji je kod ljudi kodiran genom MEN1.^[5] Menin je navodno supresor tumora povezan sa multiplom endokrinom neoplazijom tip 1 (MEN-1 sindrom).^[6]

Studije in vitro pokazale su da je menin lokaliziran u jedru, posjeduje dva funkcionalna jedarna signala lokalizacije i inhibira transkripcijsku aktivaciju do JunD. Međutim, funkcija ovog proteina nije poznata. Dvije iRNK su otkrivene Northern blotovma, ali veća nije okarakterizirana. Identifikovane su dvije varijante kraćeg transkripta gdje alternativna prerada utiče na sekvencu kodiranja. Identificirano je i pet varijanti gdje se alternativna prerada odvija u 5' UTR.^[5]

Historija

Godine 1988. istraživači iz Univerzitetske bolnice Uppsala i Karolinska instituta u Stockholmu mapirali su gen MEN1 na dugom kraku hromosoma 11.^[7] Gen je konačno kloniran 1997.^[8]

Genomika

Gen se nalazi na dugom kraku hromosoma 11 (11q13) između parova baza 64,570,985 i 64,578,765. Ima 10 egzona i kodira protein 610 aminokiselina.

Do 2010. prijavljeno je preko 1.300 mutacija. Predviđeno je da ih većina (> 70%) dovodi do skraćenih oblika raspršenih po genu. Četiri-c.249_252delGTCT (delecija na kodonima 83-84), c.1546_1547insC (insercija na kodonu 516), c.1378C> T (Arg460Ter) i c.628_631delACAG (delecija na kodonima 210-211) prijavljeno je u 4,5%, 2,7%, 2,6% i 2,5% porodica.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 615 aminokiselina, a molekulska težina 68.023 Da.^[9]

10	20	30	40	50
MGLKAAQKTL	FPLRSIDDVV	RLFAAELGRE	EPDLVLLSLV	LGFVEHFLAV
NRVIPTNVPE	LTFQPSPAPD	PPGGLTYFPV	ADLSIIAALY	ARFTAQIRGA
VDLSLYPREG	GVSSRELVKK	VSDVIWNSLS	RSYFKDRAHI	QSLFSFITGW
SPVGTKLDSS	GVAFAVVGAC	QALGLRDVHL	ALSEDHAWVV	FGPNGEQTAE
VTWHGKGNED	RRGQTVNAGV	AERSWLYLKG	SYMRCDRKME	VAFMVCAINP
SIDLHTDSLE	LLQLQQKLLW	LLYDLGHLER	YPMALGNLAD	LEELEPTPGR
PDPLTLYHKG	IASAKTYYRD	EHIYPYMYLA	GYHCRNRNVR	EALQAWADTA
TVIQDYNYCR	EDEEIYKEFF	EVANDVIPNL	LKEAASLLEA	GEERPGEQSQ
GTQSQGSALQ	DPECFAHLLR	FYDGICKWEE	GSPTPVLHVG	WATFLVQSLG
RFEGQVRQKV	RIVSREAEAA	EAEEPWGEEA	REGRRRGPRR	ESKPEEPPPP
KKPALDKGLG	TGQGAVSGPP	RKPPGTVAGT	ARGPEGGSTA	QVPAPTASPP
PEGPVLTFQS	EKMKGMKELL	VATKINSSAI	KLQLTAQSQV	QMKKQKVSTP
SDYTLSFLKR	QRKGL

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

Kliničke implikacije

Fenotip MEN1 nasljeđuje se autosomno dominantnim obrascem i povezan je s neoplazmama hipofize, paratireoidne žlijezde i gušterače (3 "P"). Iako su ove neoplazije često dobroćudne (za razliku od tumora koji se javljaju u MEN2A), one su adenomi i stoga proizvode endokrine fenotipove. Pankreasna prezentacija fenotipa MEN1 može se manifestovati kao Zollinger-Ellisonov sindrom.

MEN1 tumori hipofize su adenomi prednjih ćelija, tipski prolaktinomi ili lučeći hormon rasta. Tumori gušterače uključuju ćelije otočića, uzrokujući gastrinom ili insulinom. U rijetkim slučajevima javljaju se i tumori kore nadbubrežne žlijezde.

Uloga u kanceru

Većina mutacija zametnih linija ili somatska mutacija u MEN1 genu predviđaju skraćivanje ili odsutnost kodiranog menina, što dovodi do nemogućnosti MEN1 da djeluje kao gen supresije tumora.^[10] Takve mutacije u MEN1 povezane su s neispravnim vezivanjem kodiranog menina za proteine uključene u genetičke i epigenetičke mehanizme.^[11] Menin je protein 621 aminokiseline povezan s insulinomima ^[12] koji djeluje kao adapter, a istovremeno stupa u interakciju s partnerskim proteinima uključenim u vitalne ćelijske aktivnosti, poput transkripcijske regulacije, diobe ćelija, ćelijske proliferacije i stabilnosti genoma. Insulinomi su neuroendokrini tumori gušterače sa navodnom učestalošću od 0,4 %, koji su obično benigni usamljeni tumori, ali 5-12 % slučajeva ima udaljene metastaze pri postavljanju dijagnoze.^[13] Ovi porodični MEN-1 i sporadični tumori mogu nastati ili zbog gubitka heterozigotnosti ili regije q13 hromosoma 11, gdje se nalazi MEN1, ili zbog mutacija u genu.^[14]^[15]

MEN1 mutacije se uglavnom sastoje od delecija ili insercija pomaka okvira, praćenih nonsens mutacijama, mutacija na mjestu prerade) i djelimičnim ili potpunim delecijama gena što dovodi do patoloških stanja.^[16] Okvirne i nonsens mutacije rezultiraju navodno neaktivnim i krnjim proteinom menina, dok mutacije na mjestu prerade rezultiraju pogrešno prerađenom iRNK. Misens mutacije MEN1 su posebno važne jer rezultiraju promjenom ključnih aminokiselina potrebnih za vezivanje i interakciju s drugim proteinima i molekulama. Kako se menin nalazi pretežno u jedru,^[17] ove mutacije mogu uticati na stabilnost ćelije i mogu dalje na funkcionalnu aktivnost ili nivoe ekspresije proteina. Studije su također pokazale da pojedinačne promjene aminokiselina u genima uključenim u onkogene poremećaje mogu rezultirati proteolitskom razgradnjom koja dovodi do gubitka funkcije i smanjene stabilnosti mutiranog proteina; uobičajeni mehanizam za inaktivaciju produkata gena za suzbijanje tumora.^[18]^[19] Mutacije i delecije gena MEN1 također imaju ulogu u razvoju nasljednih i podgrupe sporadičnih adenoma hipofize i otkrivene su u približno 5% takvih adenoma.^[20] Shodno tome, promjene gena predstavljaju potencijalni patogenetski mehanizam tumorigeneze hipofize, posebno ako se posmatraju u smislu interakcija s drugim proteinima, faktorima rasta, onkogeni se ponašaju po pravilu u tumorigenezi.

Iako tačna funkcija MEN1 nije poznata, Knudsonova hipoteza "dva pogotka" pruža jake dokaze da se radi o genu supresije tumora. Porodični gubitak jedne kopije MEN1 viđen je u povezanosti sa MEN-1 sindromom. Tumor suppresorki gen slijedi karcinogeneza Knudsonov model "dva pogotka".^[21] Prvi pogodak je heterozigotna mutacija zametne linije MEN1 ili razvijena u ranoj embrionskoj fazi i posljedično prisutna u svim ćelijama pri rođenju za sporadične slučajeve, ili naslijeđena od jednog roditelja u porodičnom slučaju. Drugi pogodak je somatska mutacija MEN1, koja često dolazi od velike delecije u predisponiranoj endokrinoj ćeliji i osigurava im povoljno preživljavanje potrebno za razvoj tumora.^[22] MEN-1 sindrom često pokazuje tumore paratireoidnih žlijezda, prednjeg režnja hipofize, endokrinog dijela gušterače i endokrinog dijela duodenuma. Manje često se primjećuju neuroendokrini tumori pluća, timusa i želuca ili neendokrini tumori poput lipoma, angiofibroma i ependimoma.^[23]

U istraživanju 12 sporadičnih karcinoidnih tumora pluća, pet slučajeva uključivalo je inaktivaciju obje kopije gena MEN1. Od pet karcinoida, tri su bila atipska, a dva tipska. Dva tipska karcinoida karakterizirala je brza proliferativna stopa s većom mitotskim indeksom i jačom Ki67 pozitivnošću od ostalih tipskih karcinoida u studiji. Shodno tome, smatralo se da su karcinoidni tumori s inaktivacijom gena MEN1 karakterizirani agresivnijim molekulskim i histopatološkim obilježjima od onih bez promjena gena MEN1.^[24]

Interakcije

Dokazano je da MEN1 ima interakcije sa:

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000133895 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024947 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: MEN1 multiple endocrine neoplasia I".
^ ^a ^b Thakker RV (juni 2010). "Multiple endocrine neoplasia type 1 (MEN1)". Best Practice & Research. Clinical Endocrinology & Metabolism. 24 (3): 355–70. doi:10.1016/j.beem.2010.07.003. PMID 20833329. Referenca sadrži prazan nepoznati parametar: |1= (pomoć)
^ Byström C, Larsson C, Blomberg C, Sandelin K, Falkmer U, Skogseid B, Oberg K, Werner S, Nordenskjöld M (mart 1990). "Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors". Proceedings of the National Academy of Sciences of the United States of America. 87 (5): 1968–72. Bibcode:1990PNAS...87.1968B. doi:10.1073/pnas.87.5.1968. PMC 53606. PMID 1968641.
^ Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ (april 1997). "Positional cloning of the gene for multiple endocrine neoplasia-type 1". Science. 276 (5311): 404–7. doi:10.1126/science.276.5311.404. PMID 9103196.
^ "UniProt, O00255". Pristupljeno 24. 8. 2021.
^ Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, Garrett-Beal L, Ward JM, Libutti SK, Richard Alexander H, Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ (april 2004). "Molecular pathology of the MEN1 gene". Annals of the New York Academy of Sciences. 1014 (1): 189–98. Bibcode:2004NYASA1014..189A. doi:10.1196/annals.1294.020. PMID 15153434. S2CID 27333205.
^ Jyotsna VP, Malik E, Birla S, Sharma A (1. 1. 2015). "Novel MEN 1 gene findings in rare sporadic insulinoma--a case control study". BMC Endocrine Disorders. 15: 44. doi:10.1186/s12902-015-0041-2. PMC 4549893. PMID 26307114.
^ Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ (april 1997). "Positional cloning of the gene for multiple endocrine neoplasia-type 1". Science. 276 (5311): 404–7. doi:10.1126/science.276.5311.404. PMID 9103196.
^ Schussheim DH, Skarulis MC, Agarwal SK, Simonds WF, Burns AL, Spiegel AM, Marx SJ (1. 6. 2001). "Multiple endocrine neoplasia type 1: new clinical and basic findings". Trends in Endocrinology and Metabolism. 12 (4): 173–8. doi:10.1016/s1043-2760(00)00372-6. PMID 11295574. S2CID 32447772.
^ Thakker RV (april 2014). "Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)". Molecular and Cellular Endocrinology. 386 (1–2): 2–15. doi:10.1016/j.mce.2013.08.002. PMC 4082531. PMID 23933118.
^ Friedman E, Sakaguchi K, Bale AE, Falchetti A, Streeten E, Zimering MB, Weinstein LS, McBride WO, Nakamura Y, Brandi ML (juli 1989). "Clonality of parathyroid tumors in familial multiple endocrine neoplasia type 1". The New England Journal of Medicine. 321 (4): 213–8. doi:10.1056/nejm198907273210402. PMID 2568586.
^ Lemos MC, Thakker RV (januar 2008). "Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene". Human Mutation. 29 (1): 22–32. doi:10.1002/humu.20605. PMID 17879353. S2CID 394253.
^ Guru SC, Manickam P, Crabtree JS, Olufemi SE, Agarwal SK, Debelenko LV (juni 1998). "Identification and characterization of the multiple endocrine neoplasia type 1 (MEN1) gene". Journal of Internal Medicine. 243 (6): 433–9. doi:10.1046/j.1365-2796.1998.00346.x. PMID 9681840. S2CID 23149408.
^ Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL (januar 1999). "Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription". Cell. 96 (1): 143–52. doi:10.1016/s0092-8674(00)80967-8. PMID 9989505. S2CID 18116746.
^ Yaguchi H, Ohkura N, Tsukada T, Yamaguchi K (2002). "Menin, the multiple endocrine neoplasia type 1 gene product, exhibits GTP-hydrolyzing activity in the presence of the tumor metastasis suppressor nm23". The Journal of Biological Chemistry. 277 (41): 38197–204. doi:10.1074/jbc.M204132200. PMID 12145286.
^ Zhuang Z, Ezzat SZ, Vortmeyer AO, Weil R, Oldfield EH, Park WS, Pack S, Huang S, Agarwal SK, Guru SC, Manickam P, Debelenko LV, Kester MB, Olufemi SE, Heppner C, Crabtree JS, Burns AL, Spiegel AM, Marx SJ, Chandrasekharappa SC, Collins FS, Emmert-Buck MR, Liotta LA, Asa SL, Lubensky IA (decembar 1997). "Mutations of the MEN1 tumor suppressor gene in pituitary tumors". Cancer Research. 57 (24): 5446–51. PMID 9407947.
^ Knudson AG (decembar 1993). "Antioncogenes and human cancer". Proceedings of the National Academy of Sciences of the United States of America. 90 (23): 10914–21. Bibcode:1993PNAS...9010914K. doi:10.1073/pnas.90.23.10914. PMC 47892. PMID 7902574.
^ Marx SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Emmert-Buck MR, Debelenko LV, Lubensky IA, Zhuang Z, Guru SC, Manickam P, Olufemi SE, Skarulis MC, Doppman JL, Alexander RH, Liotta LA, Collins FS, Chandrasekharappa SC, Spiegel AM, Burns AL (juni 1998). "Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)". Journal of Internal Medicine. 243 (6): 447–53. doi:10.1046/j.1365-2796.1998.00348.x. PMID 9681842. S2CID 20132064.
^ Metz DC, Jensen RT, Bale AE, Skarulis MC, Eastman RC, Nieman L, Norton JA, Friedman E, Larsson C, Amorosi A, Brandi ML, Marx SJ (1994). "Multiple endocrine neoplasia type I. Clinical features and management". u Bilezikian JP, Levine MA, Marcus, R (ured.). The Parathyroids. New York: Raven Press Publishing Co. str. 591–646.
^ Debelenko LV, Brambilla E, Agarwal SK, Swalwell JI, Kester MB, Lubensky IA, Zhuang Z, Guru SC, Manickam P, Olufemi SE, Chandrasekharappa SC, Crabtree JS, Kim YS, Heppner C, Burns AL, Spiegel AM, Marx SJ, Liotta LA, Collins FS, Travis WD, Emmert-Buck MR (decembar 1997). "Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung". Human Molecular Genetics. 6 (13): 2285–90. doi:10.1093/hmg/6.13.2285. PMID 9361035.
^ Jin S, Mao H, Schnepp RW, Sykes SM, Silva AC, D'Andrea AD, Hua X (juli 2003). "Menin associates with FANCD2, a protein involved in repair of DNA damage". Cancer Research. 63 (14): 4204–10. PMID 12874027.
^ ^a ^b Heppner C, Bilimoria KY, Agarwal SK, Kester M, Whitty LJ, Guru SC, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL (august 2001). "The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation". Oncogene. 20 (36): 4917–25. doi:10.1038/sj.onc.1204529. PMID 11526476.
^ Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL (januar 1999). "Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription". Cell. 96 (1): 143–52. doi:10.1016/S0092-8674(00)80967-8. PMID 9989505. S2CID 18116746.
^ Yokoyama A, Wang Z, Wysocka J, Sanyal M, Aufiero DJ, Kitabayashi I, Herr W, Cleary ML (juli 2004). "Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression". Molecular and Cellular Biology. 24 (13): 5639–49. doi:10.1128/MCB.24.13.5639-5649.2004. PMC 480881. PMID 15199122.
^ Sukhodolets KE, Hickman AB, Agarwal SK, Sukhodolets MV, Obungu VH, Novotny EA, Crabtree JS, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ (januar 2003). "The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene". Molecular and Cellular Biology. 23 (2): 493–509. doi:10.1128/MCB.23.2.493-509.2003. PMC 151531. PMID 12509449.
^ Lopez-Egido J, Cunningham J, Berg M, Oberg K, Bongcam-Rudloff E, Gobl A (august 2002). "Menin's interaction with glial fibrillary acidic protein and vimentin suggests a role for the intermediate filament network in regulating menin activity". Experimental Cell Research. 278 (2): 175–83. doi:10.1006/excr.2002.5575. PMID 12169273.

Dopunska literatura

Tsukada T, Yamaguchi K, Kameya T (2002). "The MEN1 gene and associated diseases: an update". Endocrine Pathology. 12 (3): 259–73. doi:10.1385/EP:12:3:259. PMID 11740047. S2CID 30681290.
Kong C, Ellard S, Johnston C, Farid NR (novembar 2001). "Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation". Journal of Endocrinological Investigation. 24 (10): 806–10. doi:10.1007/bf03343931. PMID 11765051. S2CID 71097157.
Thakker RV (2002). "Multiple endocrine neoplasia". Hormone Research. 56 Suppl 1: 67–72. doi:10.1159/000048138. PMID 11786689. S2CID 85195319.
Stowasser M, Gunasekera TG, Gordon RD (decembar 2001). "Familial varieties of primary aldosteronism". Clinical and Experimental Pharmacology & Physiology. 28 (12): 1087–90. doi:10.1046/j.1440-1681.2001.03574.x. PMID 11903322. S2CID 23091842.
Kameya T, Tsukada T, Yamaguchi K (2004). "Recent Advances in MEN 1 Gene Study for Pituitary Tumor Pathogenesis". Recent advances in MEN1 gene study for pituitary tumor pathogenesis. Frontiers of Hormone Research. 32. str. 265–91. doi:10.1159/000079050. ISBN 3-8055-7740-0. PMID 15281352.
Balogh K, Rácz K, Patócs A, Hunyady L (novembar 2006). "Menin and its interacting proteins: elucidation of menin function". Trends in Endocrinology and Metabolism. 17 (9): 357–64. doi:10.1016/j.tem.2006.09.004. PMID 16997566. S2CID 8063335.
Lytras A, Tolis G (2006). "Growth hormone-secreting tumors: genetic aspects and data from animal models". Neuroendocrinology. 83 (3–4): 166–78. doi:10.1159/000095525. PMID 17047380. S2CID 45606794.

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on Multiple Endocrine Neoplasia Type 1
MEN1 gene variant database Arhivirano 10. 10. 2017. na Wayback Machine
MEN1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
O00255

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000133895 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024947 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: MEN1 multiple endocrine neoplasia I".

[Thakker2010-6] Thakker RV (juni 2010). "Multiple endocrine neoplasia type 1 (MEN1)". Best Practice & Research. Clinical Endocrinology & Metabolism. 24 (3): 355–70. doi:10.1016/j.beem.2010.07.003. PMID 20833329. Referenca sadrži prazan nepoznati parametar: |1= (pomoć)

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