| 1 | PJS1, STK11
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| Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene.
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| Masuda K, Kobayashi Y, Kimura T, Umene K, Misu K, Nomura H, Hirasawa A, Banno K, Kosaki K, Aoki D, Sugano K.
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| Hum Genome Var 3:16002. doi: 10.1038/hgv.2016.2. eCollection 2016.
2016
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| 2 | PJS1, STK11
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| Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of Sertoli cell polarity and spermatogenesis.
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| Tanwar PS, Kaneko-Tarui T, Zhang L, Teixeira JM.
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| Hum Mol Genet 21(20):4394-405. Epub 2012 Jul 12.
2012
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| 3 | PJS1, STK11
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| Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.
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| Mehenni H, Resta N, Guanti G, Mota-Vieira L, Lerner A, Peyman M, Chong KA, Aissa L, Ince A, Cosme A, Costanza MC, Rossier C, Radhakrishna U, Burt RW, Picard D.
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| Dig Dis Sci 52(8):1924-33. Epub 2007 Apr 3.
2007
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| 4 | PJS1, STK11
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| An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.
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| Chow E, Meldrum CJ, Crooks R, Macrae F, Spigelman AD, Scott RJ.
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| Clin Genet 70(5):409-14. 2006
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| 5 | STK11, PJS1
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| LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
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| Volikos E, Robinson J, Aittomaki K, Mecklin JP, Jarvinen H, Westerman AM, de Rooji FW, Vogel T, Moeslein G, Launonen V, Tomlinson IP, Silver AR, Aaltonen LA.
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| J Med Genet 43(5):e18. 2006
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| 6 | PJS1, STK11, SMARCA4, LYK5, CAB39
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| Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome.
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| Alhopuro P, Katajisto P, Lehtonen R, Ylisaukko-Oja SK, Naatsaari L, Karhu A, Westerman AM, Wilson JH, de Rooij FW, Vogel T, Moeslein G, Tomlinson IP, Aaltonen LA, Makela TP, Launonen V.
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| Br J Cancer 92(6):1126-9. 2005
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| 7 | STK11, PJS1
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| A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer.
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| Shinmura K, Goto M, Tao H, Shimizu S, Otsuki Y, Kobayashi H, Ushida S, Suzuki K, Tsuneyoshi T, Sugimura H.
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| Clin Genet 67(1):81-6. 2005
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| 8 | STK11, LYK5, PJS1
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| Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity.
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| Forcet C, Etienne-Manneville S, Gaude H, Fournier L, Debilly S, Salmi M, Baas A, Olschwang S, Clevers H, Billaud M.
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| Hum Mol Genet 14(10):1283-92. Epub 2005 Mar 30. 2005
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| 9 | STK11, PJS1
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| STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
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| Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moslein G, Royer-Pokora B.
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| J Med Genet 42(5):428-35. No abstract available. 2005
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| 10 | STK11, PJS1
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| Mutations in the human LKB1/STK11 gene.
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| Launonen V.
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| Hum Mutat 26(4):291-7. 2005
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| 11 | CNC1, BZS, PJS1, LEOPS
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| The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.
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| Bauer AJ, Stratakis CA.
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| J Med Genet 42(11):801-10. Epub 2005 Jun 15. 2005
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| 12 | PJS1, STK11
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| Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
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| Le Meur N, Martin C, Saugier-Veber P, Joly G, Lemoine F, Moirot H, Rossi A, Bachy B, Cabot A, Joly P, Frebourg T.
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| Eur J Hum Genet 12(5):415-8. 2004
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| 13 | STK11, PJS1
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| De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.
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| Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M.
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| Clin Genet 66(1):58-62. 2004
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| 14 | PJS1, PJS2
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| Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2.
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| Buchet-Poyau K, Mehenni H, Radhakrishna U, Antonarakis SE.
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| Cytogenet Genome Res 97(3-4):171-8. 2002
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| 15 | PJS1, STK11
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| Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
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| Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D, Neale K, Phillips R, Zauber P, Twama T, Sampson J, Jarvinen H, Makela TP, Aaltonen LA.
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| Hum Mol Genet 8 : 45-51. 1999
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| 16 | PJS1, STK11
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| Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.
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| Wang ZJ, et al.
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| J Med Genet 36(5):365-8. 1999
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| 17 | PJS1, STK11
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| LKB1 somatic mutations in sporadic tumors.
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| Avizienyte E, et al.
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| Am J Pathol 154(3):677-81. 1999
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| 18 | STK11, PJS1
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| Somatic mutations in the Peutz-Jegners (LKB1/STKII) gene in sporadic malignant melanomas.
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| Rowan A, et al.
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| J Invest Dermatol 112(4):509-11. 1999
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| 19 | STK11, PJS1
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| STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.
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| Jiang CY, et al.
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| Clin Genet 56(2):136-41 1999
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| 20 | PJS1, STK11
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| A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
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| Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P, Pelin K, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.
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| Nature 391(6663):184-7. 1998
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| 21 | PJS1
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| Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.
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| Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Muller O, Back W, Zimmer M.
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| Nat Genet 18(1):38-43. 1998
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| 22 | PJS1
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| Peutz-Jeghers disease : most, but not all, families are compatible with linkage to 19p13.3.
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| Olschwang S, Markie D, Seal S, Neale K, Phillips R, Cottrell S, Ellis I, Hodgson S, Zauber P, Spigelman A, Iwama T, Loff S, McKeown C, Marchese C, Sampson J, Davies S, Talbot I, Wyke J, Thomas G, Bodmer W, Hemminki A, Avizienyte E, de la Chapelle A, Aaltonen L, Tomlinson I, et al.
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| J Med Genet 35(1):42-4. 1998
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| 23 | PJS1
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| Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3.
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| Nakagawa H, Koyama K, Tanaka T, Miyoshi Y, Ando H, Baba S, Watatani M, Yasutomi M, Monden M, Nakamura Y.
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| Hum Genet 102(2):203-6. 1998
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| 24 | BZS, HMPS, JPS2, MHAM, PJS1
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| Molecular classification of the inherited hamartoma polyposis syndromes : clearing the muddied waters.
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| Eng C, et al.
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| Am J Hum Genet 62 : 1020-1022. 1998
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| 25 | PJS1, STK11
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| Frequent somatic mutations in serine/threonine kinase 11/Peutz-Jeghers syndrome gene in left-sided colon cancer.
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| Dong SM, et al.
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| Cancer Res 58 : 3787-3790. 1998
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| 26 | PJS1, STK11
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| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.
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| Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin JL, Scott HS, Antonarakis SE.
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| Am J Hum Genet 63 : 1641-1650. 1998
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| 27 | PJS1, STK11
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| STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.
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| Resta N, et al.
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| Cancer Res 58 : 4799-4801. 1998
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| 28 | PJS1
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| Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.
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| Hemminki A, et al.
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| Nat Genet 15 : 87-90. 1997
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| 29 | PJS1
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| Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. (abstr)
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| Anderson JP, et al.
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| Am J Hum Genet 61 : A265. 1997
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| 30 | PJS1, PJS2
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| Peutz-Jeghers syndrome.
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| Tomlinson IP, Houlston RS.
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| J Med Genet 34(12):1007-11. 1997
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| 31 | PJS1
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| A glycine-rich RNA-binding protein mediating cold-inducible suppression of mammalian cell growth.
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| Nishiyama H, Itoh K, Kaneko Y, Kishishita M, Yoshida O, Fujita J.
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| J Cell Biol 137(4):899-908. 1997
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| 32 | PJS1, PJS4
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| Peutz-Jeghers syndrome : confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.
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| Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K, Dixit VB, Richards KF, Bermejo-Fenoll A, Leal AS, Raval RC, Antonarakis SE.
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| Am J Hum Genet 61(6):1327-34. 1997
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| 33 | PJS1
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| Cloning and characterization of a novel serine/threonine protein kinase expressed in early Xenopus embryos.
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| Su JY, et al.
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| J Biol Chem 271 : 14430-14437. 1996
|