Sequence of PTEN_HUMAN
EC Number:3.1.3.48
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
[a protein]-tyrosine phosphate + H2O = [a protein]-tyrosine + phosphate
Other sequences found for EC No. 3.1.3.48
General information:
Sequence
0 MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
60 HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
120 AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRRYVYYYSY
180 LLKNHLDYRP VALLFHKMMF ETIPMFSGGT CNPQFVVCQL KVKIYSSNSG PTRREDKFMY
240 FEFPQPLPVC GDIKVEFFHK QNKMLKKDKM FHFWVNTFFI PGPEETSEKV ENGSLCDQEI
300 DSICSIERAD NDKEYLVLTL TKNDLDKANK DKANRYFSPN FKVKLYFTKT VEEPSNPEAS
360 SSTSVTPDVS DNEPDHYRYS DTTDSDPENE PFDEDQHTQI TKV
Download this sequence
in fasta formatDownload all sequences for 3.1.3.48
in fasta format
in csv (Excel, OpenOffice) formatSequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
80266
Li D.M.,Sun H.
TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta.
Cancer Res.
57
2124-2129
1997
80267
Steck P.A.,Pershouse M.A.,Jasser S.A.,Lin H.,Yung W.K.A.,Ligon A.H.,Langford L.A.,Baumgard M.L.,Hattier T.,Davis T.,Frye C.,Hu R.,Swedlund B.,Teng D.H.-F.,Tavtigian S.V.
Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.
Nat. Genet.
15
356-363
1997
80268
Li J.,Yen C.,Liaw D.,Podsypanina K.,Bose S.,Wang S.I.,Puc J.,Miliaresis C.,Rodgers L.,McCombie R.,Bigner S.H.,Giovanella B.C.,Ittmann M.,Tycko B.,Hibshoosh H.,Wigler M.H.,Parsons R.
PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.
Science
275
1943-1947
1997
80269
Hamilton J.A.,Stewart L.M.D.,Ajayi L.,Gray I.C.,Gray N.E.,Roberts K.G.,Watson G.J.,Kaisary A.V.,Snary D.
The expression profile for the tumour suppressor gene PTEN and associated polymorphic markers.
Br. J. Cancer
82
1671-1676
2000
80274
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.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
80277
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
80278
Myers M.P.,Stolarov J.P.,Eng C.,Li J.,Wang S.I.,Wigler M.H.,Parsons R.,Tonks N.K.
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.
Proc. Natl. Acad. Sci. U.S.A.
94
9052-9057
1997
80279
Maehama T.,Dixon J.E.
The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate.
J. Biol. Chem.
273
13375-13378
1998
80280
Myers M.P.,Pass I.,Batty I.H.,Van der Kaay J.,Stolarov J.P.,Hemmings B.A.,Wigler M.H.,Downes C.P.,Tonks N.K.
The lipid phosphatase activity of PTEN is critical for its tumor suppressor function.
Proc. Natl. Acad. Sci. U.S.A.
95
13513-13518
1998
80281
Tamura M.,Gu J.,Matsumoto K.,Aota S.,Parsons R.,Yamada K.M.
Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN.
Science
280
1614-1617
1998
80282
Georgescu M.-M.,Kirsch K.H.,Akagi T.,Shishido T.,Hanafusa H.
The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
Proc. Natl. Acad. Sci. U.S.A.
96
10182-10187
1999
80283
Adey N.B.,Huang L.,Ormonde P.A.,Baumgard M.L.,Pero R.,Byreddy D.V.,Tavtigian S.V.,Bartel P.L.
Threonine phosphorylation of the MMAC1/PTEN PDZ binding domain both inhibits and stimulates PDZ binding.
Cancer Res.
60
35-37
2000
80284
Wu Y.,Dowbenko D.,Spencer S.,Laura R.,Lee J.,Gu Q.,Lasky L.A.
Interaction of the tumor suppressor PTEN/MMAC with a PDZ domain of MAGI3, a novel membrane-associated guanylate kinase.
J. Biol. Chem.
275
21477-21485
2000
80285
Wu X.,Hepner K.,Castelino-Prabhu S.,Do D.,Kaye M.B.,Yuan X.-J.,Wood J.,Ross C.,Sawyers C.L.,Whang Y.E.
Evidence for regulation of the PTEN tumor suppressor by a membrane-localized multi-PDZ domain containing scaffold protein MAGI-2.
Proc. Natl. Acad. Sci. U.S.A.
97
4233-4238
2000
80286
Torres J.,Pulido R.
The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradation.
J. Biol. Chem.
276
993-998
2001
80287
Vazquez F.,Grossman S.R.,Takahashi Y.,Rokas M.V.,Nakamura N.,Sellers W.R.
Phosphorylation of the PTEN tail acts as an inhibitory switch by preventing its recruitment into a protein complex.
J. Biol. Chem.
276
48627-48630
2001
80288
Miller S.,Lou D.,Seldin D.,Lane W.,Neel B.
Direct identification of PTEN phosphorylation sites.
FEBS Lett.
528
145-153
2002
80289
Okahara F.,Ikawa H.,Kanaho Y.,Maehama T.
Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein.
J. Biol. Chem.
279
45300-45303
2004
80290
Mehenni H.,Lin-Marq N.,Buchet-Poyau K.,Reymond A.,Collart M.A.,Picard D.,Antonarakis S.E.
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.
Hum. Mol. Genet.
14
2209-2219
2005
80291
Valiente M.,Andres-Pons A.,Gomar B.,Torres J.,Gil A.,Tapparel C.,Antonarakis S.E.,Pulido R.
Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases.
J. Biol. Chem.
280
28936-28943
2005
80292
Vandeput F.,Backers K.,Villeret V.,Pesesse X.,Erneux C.
The influence of anionic lipids on SHIP2 phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase activity.
Cell. Signal.
18
2193-2199
2006
80293
Wang X.,Trotman L.C.,Koppie T.,Alimonti A.,Chen Z.,Gao Z.,Wang J.,Erdjument-Bromage H.,Tempst P.,Cordon-Cardo C.,Pandolfi P.P.,Jiang X.
NEDD4-1 is a proto-oncogenic ubiquitin ligase for PTEN.
Cell
128
129-139
2007
80294
Song M.S.,Salmena L.,Carracedo A.,Egia A.,Lo-Coco F.,Teruya-Feldstein J.,Pandolfi P.P.
The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network.
Nature
455
813-817
2008
80295
Yim E.-K.,Peng G.,Dai H.,Hu R.,Li K.,Lu Y.,Mills G.B.,Meric-Bernstam F.,Hennessy B.T.,Craven R.J.,Lin S.-Y.
Rak functions as a tumor suppressor by regulating PTEN protein stability and function.
Cancer Cell
15
304-314
2009
80296
Van Themsche C.,Leblanc V.,Parent S.,Asselin E.
X-linked inhibitor of apoptosis protein (XIAP) regulates PTEN ubiquitination, content, and compartmentalization.
J. Biol. Chem.
284
20462-20466
2009
80297
Xu D.,Yao Y.,Jiang X.,Lu L.,Dai W.
Regulation of PTEN stability and activity by Plk3.
J. Biol. Chem.
285
39935-39942
2010
80298
Mund T.,Pelham H.R.
Regulation of PTEN/Akt and MAP kinase signaling pathways by the ubiquitin ligase activators Ndfip1 and Ndfip2.
Proc. Natl. Acad. Sci. U.S.A.
107
11429-11434
2010
80299
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
80300
Stohr N.,Kohn M.,Lederer M.,Glass M.,Reinke C.,Singer R.H.,Huttelmaier S.
IGF2BP1 promotes cell migration by regulating MK5 and PTEN signaling.
Genes Dev.
26
176-189
2012
80301
Van Damme P.,Lasa M.,Polevoda B.,Gazquez C.,Elosegui-Artola A.,Kim D.S.,De Juan-Pardo E.,Demeyer K.,Hole K.,Larrea E.,Timmerman E.,Prieto J.,Arnesen T.,Sherman F.,Gevaert K.,Aldabe R.
N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
Proc. Natl. Acad. Sci. U.S.A.
109
12449-12454
2012
80302
Hopkins B.D.,Fine B.,Steinbach N.,Dendy M.,Rapp Z.,Shaw J.,Pappas K.,Yu J.S.,Hodakoski C.,Mense S.,Klein J.,Pegno S.,Sulis M.L.,Goldstein H.,Amendolara B.,Lei L.,Maurer M.,Bruce J.,Canoll P.,Hibshoosh H.,Parsons R.
A secreted PTEN phosphatase that enters cells to alter signaling and survival.
Science
341
399-402
2013
80303
Obeidat M.,Li L.,Ballermann B.J.
TIMAP promotes angiogenesis by suppressing PTEN-mediated Akt inhibition in human glomerular endothelial cells.
Am. J. Physiol.
307
0-0
2014
80304
Liang H.,He S.,Yang J.,Jia X.,Wang P.,Chen X.,Zhang Z.,Zou X.,McNutt M.A.,Shen W.H.,Yin Y.
PTENalpha, a PTEN isoform translated through alternative initiation, regulates mitochondrial function and energy metabolism.
Cell Metab.
19
836-848
2014
80305
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
80306
Howitt J.,Low L.H.,Putz U.,Doan A.,Lackovic J.,Goh C.P.,Gunnersen J.,Silke J.,Tan S.S.
Ndfip1 represses cell proliferation by controlling Pten localization and signaling specificity.
J. Mol. Cell Biol.
7
119-131
2015
80307
Lee J.-O.,Yang H.,Georgescu M.-M.,Di Cristofano A.,Maehama T.,Shi Y.,Dixon J.E.,Pandolfi P.,Pavletich N.P.
Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
Cell
99
323-334
1999
80308
Tsou H.C.,Teng D.H.-F.,Ping X.L.,Brancolini V.,Davis T.,Hu R.,Xie X.X.,Gruener A.C.,Schrager C.A.,Christiano A.M.,Eng C.,Steck P.,Ott J.,Tavtigian S.V.,Peacocke M.
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.
Am. J. Hum. Genet.
61
1036-1043
1997
80309
Lynch E.D.,Ostermeyer E.A.,Lee M.K.,Arena J.F.,Ji H.,Dann J.,Swisshelm K.,Suchard D.,MacLeod P.M.,Kvinnsland S.,Gjertsen B.T.,Heimdal K.,Lubs H.,Moeller P.,King M.-C.
Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis.
Am. J. Hum. Genet.
61
1254-1260
1997
80310
Wang S.I.,Puc J.,Li J.,Bruce J.N.,Cairns P.,Sidransky D.,Parsons R.
Somatic mutations of PTEN in glioblastoma multiforme.
Cancer Res.
57
4183-4186
1997
80311
Nelen M.R.,van Staveren W.C.G.,Peeters E.A.J.,Ben-Hassel M.,Gorlin R.J.,Hamm H.,Lindboe C.F.,Fryns J.-P.,Sijmons R.H.,Woods D.G.,Mariman E.C.M.,Padberg G.W.,Kremer H.
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
Hum. Mol. Genet.
6
1383-1387
1997
80312
Liaw D.,Marsh D.J.,Li J.,Dahia P.L.M.,Wang S.I.,Zheng Z.,Bose S.,Call K.M.,Tsou H.C.,Peacocke M.,Eng C.,Parsons R.
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
Nat. Genet.
16
64-67
1997
80313
Marsh D.J.,Dahia P.L.M.,Zheng Z.,Liaw D.,Parsons R.,Gorlin R.J.,Eng C.
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Nat. Genet.
16
333-334
1997
80314
Maxwell G.L.,Risinger J.I.,Gumbs C.,Shaw H.,Bentley R.C.,Barrett J.C.,Berchuck A.,Futreal P.A.
Mutation of the PTEN tumor suppressor gene in endometrial hyperplasias.
Cancer Res.
58
2500-2503
1998
80315
Chi S.-G.,Kim H.-J.,Park B.-J.,Min H.-J.,Park J.-H.,Kim Y.-W.,Dong S.-H.,Kim B.-H.,Lee J.-I.,Chang Y.-W.,Chang R.,Kim W.-K.,Yang M.-H.
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.
Gastroenterology
115
1084-1089
1998
80316
Tsou H.C.,Ping X.L.,Xie X.X.,Gruener A.C.,Zhang H.,Nini R.,Swisshelm K.,Sybert V.,Diamond T.M.,Sutphen R.,Peacocke M.
The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.
Hum. Genet.
102
467-473
1998
80317
Marsh D.J.,Coulon V.,Lunetta K.L.,Rocca-Serra P.,Dahia P.L.M.,Zheng Z.,Liaw D.,Caron S.,Duboue B.,Lin A.Y.,Richardson A.-L.,Bonnetblanc J.-M.,Bressieux J.-M.,Cabarrot-Moreau A.,Chompret A.,Demange L.,Eeles R.A.,Yahanda A.M.,Fearon E.R.,Fricker J.-P.,Gorlin R.J.,Hodgson S.V.,Huson S.,Lacombe D.,Leprat F.,Odent S.,Toulouse C.,Olopade O.I.,Sobol H.,Tishler S.,Woods C.G.,Robinson B.G.,Weber H.C.,Parsons R.,Peacocke M.,Longy M.,Eng C.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Hum. Mol. Genet.
7
507-515
1998
80318
Scala S.,Bruni P.,Lo Muzio L.,Mignogna M.,Viglietto G.,Fusco A.
Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.
Int. J. Oncol.
13
665-668
1998
80319
Marsh D.J.,Dahia P.L.M.,Caron S.,Kum J.B.,Frayling I.M.,Tomlinson I.P.M.,Hughes K.S.,Eeles R.A.,Hodgson S.V.,Murday V.A.,Houlston R.,Eng C.
Germline PTEN mutations in Cowden syndrome-like families.
J. Med. Genet.
35
881-885
1998
80320
Olschwang S.,Serova-Sinilnikova O.M.,Lenoir G.M.,Thomas G.
PTEN germ-line mutations in juvenile polyposis coli.
Nat. Genet.
18
12-14
1998
80321
Kurose K.,Araki T.,Matsunaka T.,Takada Y.,Emi M.
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
Am. J. Hum. Genet.
64
308-310
1999
80322
Sutphen R.,Diamond T.M.,Minton S.E.,Peacocke M.,Tsou H.C.,Root A.W.
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.
Am. J. Med. Genet.
82
290-293
1999
80323
Nelen M.R.,Kremer H.,Konings I.B.M.,Schoute F.,van Essen A.J.,Koch R.,Woods C.G.,Fryns J.-P.,Hamel B.C.J.,Hoefsloot L.H.,Peeters E.A.J.,Padberg G.W.
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Eur. J. Hum. Genet.
7
267-273
1999
80324
Marsh D.J.,Kum J.B.,Lunetta K.L.,Bennett M.J.,Gorlin R.J.,Ahmed S.F.,Bodurtha J.,Crowe C.,Curtis M.A.,Dasouki M.,Dunn T.,Feit H.,Geraghty M.T.,Graham J.M. Jr.,Hodgson S.V.,Hunter A.,Korf B.R.,Manchester D.,Miesfeldt S.,Murday V.A.,Nathanson K.L.,Parisi M.,Pober B.,Romano C.,Tolmie J.L.,Trembath R.,Winter R.M.,Zackai E.H.,Zori R.T.,Weng L.-P.,Dahia P.L.M.,Eng C.
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Hum. Mol. Genet.
8
1461-1472
1999
80325
Han S.-Y.,Kato H.,Kato S.,Suzuki T.,Shibata H.,Ishii S.,Shiiba K.,Matsuno S.,Kanamaru R.,Ishioka C.
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
Cancer Res.
60
3147-3151
2000
80326
De Vivo I.,Gertig D.M.,Nagase S.,Hankinson S.E.,O'Brien R.,Speizer F.E.,Parsons R.,Hunter D.J.
Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers.
J. Med. Genet.
37
336-341
2000
80327
Celebi J.T.,Shendrik I.,Silvers D.N.,Peacocke M.
Identification of PTEN mutations in metastatic melanoma specimens.
J. Med. Genet.
37
653-657
2000
80328
Weng L.-P.,Brown J.L.,Eng C.
PTEN coordinates G1 arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.
Hum. Mol. Genet.
10
599-604
2001
80329
Reardon W.,Zhou X.-P.,Eng C.
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
J. Med. Genet.
38
820-823
2001
80330
Marsh D.J.,Theodosopoulos G.,Howell V.,Richardson A.-L.,Benn D.E.,Proos A.L.,Eng C.,Robinson B.G.
Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.
Neoplasia
3
236-244
2001
80331
Staal F.J.T.,van der Luijt R.B.,Baert M.R.M.,van Drunen J.,van Bakel H.,Peters E.,de Valk I.,van Amstel H.K.P.,Taphoorn M.J.B.,Jansen G.H.,van Veelen C.W.M.,Burgering B.,Staal G.E.J.
A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
Br. J. Cancer
86
1586-1591
2002
80332
Poetsch M.,Lorenz G.,Kleist B.
Detection of new PTEN/MMAC1 mutations in head and neck squamous cell carcinomas with loss of chromosome 10.
Cancer Genet. Cytogenet.
132
20-24
2002
80333
Smith J.M.,Kirk E.P.E.,Theodosopoulos G.,Marshall G.M.,Walker J.,Rogers M.,Field M.,Brereton J.J.,Marsh D.J.
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
J. Med. Genet.
39
937-940
2002
80334
Butler M.G.,Dasouki M.J.,Zhou X.-P.,Talebizadeh Z.,Brown M.,Takahashi T.N.,Miles J.H.,Wang C.H.,Stratton R.,Pilarski R.,Eng C.
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
J. Med. Genet.
42
318-321
2005
80335
Balciuniene J.,Feng N.,Iyadurai K.,Hirsch B.,Charnas L.,Bill B.R.,Easterday M.C.,Staaf J.,Oseth L.,Czapansky-Beilman D.,Avramopoulos D.,Thomas G.H.,Borg A.,Valle D.,Schimmenti L.A.,Selleck S.B.
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
Am. J. Hum. Genet.
80
938-947
2007
80336
Tekin M.,Hismi B.O.,Fitoz S.,Yalcinkaya F.,Ekim M.,Kansu A.,Ertem M.,Deda G.,Tutar E.,Arsan S.,Zhou X.-P.,Pilarski R.,Eng C.,Akar N.
A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
Am. J. Med. Genet. A
140
1472-1475
2006
80337
O'Roak B.J.,Vives L.,Fu W.,Egertson J.D.,Stanaway I.B.,Phelps I.G.,Carvill G.,Kumar A.,Lee C.,Ankenman K.,Munson J.,Hiatt J.B.,Turner E.H.,Levy R.,O'Day D.R.,Krumm N.,Coe B.P.,Martin B.K.,Borenstein E.,Nickerson D.A.,Mefford H.C.,Doherty D.,Akey J.M.,Bernier R.,Eichler E.E.,Shendure J.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Science
338
1619-1622
2012
80338
D'Gama A.M.,Pochareddy S.,Li M.,Jamuar S.S.,Reiff R.E.,Lam A.T.,Sestan N.,Walsh C.A.
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
Neuron
88
910-917
2015
80339
Costa H.A.,Leitner M.G.,Sos M.L.,Mavrantoni A.,Rychkova A.,Johnson J.R.,Newton B.W.,Yee M.C.,De La Vega F.M.,Ford J.M.,Krogan N.J.,Shokat K.M.,Oliver D.,Halaszovich C.R.,Bustamante C.D.
Discovery and functional characterization of a neomorphic PTEN mutation.
Proc. Natl. Acad. Sci. U.S.A.
112
13976-13981
2015
