Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant?

Zurück zum Zitat Beckers A, Daly AF (2007) The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol 157(4):371–382CrossRefPubMed Beckers A, Daly AF (2007) The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol 157(4):371–382CrossRefPubMed

Zurück zum Zitat Daly AF, Tichomirowa MA, Beckers A (2009) Genetic, molecular and clinical features of familial isolated pituitary adenomas. Horm Res 71(Suppl 2):116–122CrossRefPubMed Daly AF, Tichomirowa MA, Beckers A (2009) Genetic, molecular and clinical features of familial isolated pituitary adenomas. Horm Res 71(Suppl 2):116–122CrossRefPubMed

Zurück zum Zitat Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De HW, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabate MI, Bertagna X, Garcia BN, Stalldecker G, Colao A, Ferolla P, Wemeau JL, Caron P, Sadoul JL, Oneto A, Archambeaud F, Calender A, Sinilnikova O, Montanana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC, Basso A, Rohmer V, Brue T, Bours V, Teh BT, Beckers A (2007) Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab 92(5):1891–1896CrossRefPubMed Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De HW, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabate MI, Bertagna X, Garcia BN, Stalldecker G, Colao A, Ferolla P, Wemeau JL, Caron P, Sadoul JL, Oneto A, Archambeaud F, Calender A, Sinilnikova O, Montanana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC, Basso A, Rohmer V, Brue T, Bours V, Teh BT, Beckers A (2007) Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab 92(5):1891–1896CrossRefPubMed

Zurück zum Zitat Daly AF, Tichomirowa MA, Petrossians P, Heliovaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De ME, Montanana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabate MI, Villa C, Popelier M, Salvatori R, Jennings J, Longas AF, Labarta Aizpun JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De HW, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A (2010) Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab 95(11):E373–E383CrossRefPubMed Daly AF, Tichomirowa MA, Petrossians P, Heliovaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De ME, Montanana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabate MI, Villa C, Popelier M, Salvatori R, Jennings J, Longas AF, Labarta Aizpun JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De HW, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A (2010) Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab 95(11):E373–E383CrossRefPubMed

Zurück zum Zitat Korbonits M, Storr H, Kumar AV (2012) Familial pituitary adenomas: who should be tested for AIP mutations? Clin Endocrinol (Oxf) 77(3):351–356CrossRef Korbonits M, Storr H, Kumar AV (2012) Familial pituitary adenomas: who should be tested for AIP mutations? Clin Endocrinol (Oxf) 77(3):351–356CrossRef

Zurück zum Zitat Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, Tamagno G, Cazabat L, Bours V, Brue T, Enjalbert A, Beckers A (2007) Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab 92(5):1952–1955CrossRefPubMed Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, Tamagno G, Cazabat L, Bours V, Brue T, Enjalbert A, Beckers A (2007) Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab 92(5):1952–1955CrossRefPubMed

Zurück zum Zitat Cazabat L, Libe R, Perlemoine K, Rene-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML (2007) Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. Eur J Endocrinol 157(1):1–8CrossRefPubMed Cazabat L, Libe R, Perlemoine K, Rene-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML (2007) Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. Eur J Endocrinol 157(1):1–8CrossRefPubMed

Zurück zum Zitat Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Makinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De ME, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA (2007) Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Proc Natl Acad Sci USA 104(10):4101–4105PubMedCentralCrossRefPubMed Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Makinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De ME, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA (2007) Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Proc Natl Acad Sci USA 104(10):4101–4105PubMedCentralCrossRefPubMed

Zurück zum Zitat Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra ML, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA (2014) Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 371(25):2363–2374PubMedCentralCrossRefPubMed Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra ML, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA (2014) Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 371(25):2363–2374PubMedCentralCrossRefPubMed

Zurück zum Zitat Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P (2012) Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab 97(4):E663–E670CrossRefPubMed Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P (2012) Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab 97(4):E663–E670CrossRefPubMed

Zurück zum Zitat Occhi G, Trivellin G, Ceccato F, De LP, Giorgi G, Dematte S, Grimaldi F, Castello R, Davi MV, Arnaldi G, Salviati L, Opocher G, Mantero F, Scaroni C (2010) Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia. Eur J Endocrinol 163(3):369–376CrossRefPubMed Occhi G, Trivellin G, Ceccato F, De LP, Giorgi G, Dematte S, Grimaldi F, Castello R, Davi MV, Arnaldi G, Salviati L, Opocher G, Mantero F, Scaroni C (2010) Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia. Eur J Endocrinol 163(3):369–376CrossRefPubMed

Zurück zum Zitat Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De ME, Makinen MJ, Launonen V, Karhu A, Aaltonen LA (2006) Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312(5777):1228–1230CrossRefPubMed Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De ME, Makinen MJ, Launonen V, Karhu A, Aaltonen LA (2006) Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312(5777):1228–1230CrossRefPubMed

Zurück zum Zitat Colao A, Cappabianca P, Caron P, De ME, Farrall AJ, Gadelha MR, Hmissi A, Rees A, Reincke M, Safari M, T’Sjoen G, Bouterfa H, Cuneo RC (2009) Octreotide LAR vs. surgery in newly diagnosed patients with acromegaly: a randomized, open-label, multicentre study. Clin Endocrinol (Oxf) 70(5):757–768CrossRef Colao A, Cappabianca P, Caron P, De ME, Farrall AJ, Gadelha MR, Hmissi A, Rees A, Reincke M, Safari M, T’Sjoen G, Bouterfa H, Cuneo RC (2009) Octreotide LAR vs. surgery in newly diagnosed patients with acromegaly: a randomized, open-label, multicentre study. Clin Endocrinol (Oxf) 70(5):757–768CrossRef

Zurück zum Zitat Giustina A, Barkan A, Chanson P, Grossman A, Hoffman A, Ghigo E, Casanueva F, Colao A, Lamberts S, Sheppard M, Melmed S (2008) Guidelines for the treatment of growth hormone excess and growth hormone deficiency in adults. J Endocrinol Investig 31(9):820–838CrossRef Giustina A, Barkan A, Chanson P, Grossman A, Hoffman A, Ghigo E, Casanueva F, Colao A, Lamberts S, Sheppard M, Melmed S (2008) Guidelines for the treatment of growth hormone excess and growth hormone deficiency in adults. J Endocrinol Investig 31(9):820–838CrossRef

Zurück zum Zitat Melmed S, Colao A, Barkan A, Molitch M, Grossman AB, Kleinberg D, Clemmons D, Chanson P, Laws E, Schlechte J, Vance ML, Ho K, Giustina A (2009) Guidelines for acromegaly management: an update. J Clin Endocrinol Metab 94(5):1509–1517CrossRefPubMed Melmed S, Colao A, Barkan A, Molitch M, Grossman AB, Kleinberg D, Clemmons D, Chanson P, Laws E, Schlechte J, Vance ML, Ho K, Giustina A (2009) Guidelines for acromegaly management: an update. J Clin Endocrinol Metab 94(5):1509–1517CrossRefPubMed

Zurück zum Zitat Rowlands JC, Urban JD, Wikoff DS, Budinsky RA (2011) An evaluation of single nucleotide polymorphisms in the human aryl hydrocarbon receptor-interacting protein (AIP) gene. Drug Metab Pharmacokinet 26(4):431–439CrossRefPubMed Rowlands JC, Urban JD, Wikoff DS, Budinsky RA (2011) An evaluation of single nucleotide polymorphisms in the human aryl hydrocarbon receptor-interacting protein (AIP) gene. Drug Metab Pharmacokinet 26(4):431–439CrossRefPubMed

Zurück zum Zitat Beckers A, Aaltonen LA, Daly AF, Karhu A (2013) Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev 34(2):239–277PubMedCentralCrossRefPubMed Beckers A, Aaltonen LA, Daly AF, Karhu A (2013) Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev 34(2):239–277PubMedCentralCrossRefPubMed

Zurück zum Zitat Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schurmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Montanana CF, Hana V, Halaby G, Delemer B, Aizpun JI, Sonnet E, Longas AF, Hagelstein MT, Caron P, Stalla GK, Bours V, Zacharieva S, Spada A, Brue T, Beckers A (2011) High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol 165(4):509–515CrossRefPubMed Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schurmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Montanana CF, Hana V, Halaby G, Delemer B, Aizpun JI, Sonnet E, Longas AF, Hagelstein MT, Caron P, Stalla GK, Bours V, Zacharieva S, Spada A, Brue T, Beckers A (2011) High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol 165(4):509–515CrossRefPubMed

Zurück zum Zitat Tuominen I, Heliovaara E, Raitila A, Rautiainen MR, Mehine M, Katainen R, Donner I, Aittomaki V, Lehtonen HJ, Ahlsten M, Kivipelto L, Schalin-Jantti C, Arola J, Hautaniemi S, Karhu A (2015) AIP inactivation leads to pituitary tumorigenesis through defective Galpha-cAMP signaling. Oncogene 34(9):1174–1184CrossRefPubMed Tuominen I, Heliovaara E, Raitila A, Rautiainen MR, Mehine M, Katainen R, Donner I, Aittomaki V, Lehtonen HJ, Ahlsten M, Kivipelto L, Schalin-Jantti C, Arola J, Hautaniemi S, Karhu A (2015) AIP inactivation leads to pituitary tumorigenesis through defective Galpha-cAMP signaling. Oncogene 34(9):1174–1184CrossRefPubMed

Zurück zum Zitat Linnert M, Haupt K, Lin YJ, Kissing S, Paschke AK, Fischer G, Weiwad M, Lucke C (2012) NMR assignments of the FKBP-type PPIase domain of the human aryl-hydrocarbon receptor-interacting protein (AIP). Biomol NMR Assign 6(2):209–212CrossRefPubMed Linnert M, Haupt K, Lin YJ, Kissing S, Paschke AK, Fischer G, Weiwad M, Lucke C (2012) NMR assignments of the FKBP-type PPIase domain of the human aryl-hydrocarbon receptor-interacting protein (AIP). Biomol NMR Assign 6(2):209–212CrossRefPubMed

Zurück zum Zitat Ma Q, Whitlock JP Jr (1997) A novel cytoplasmic protein that interacts with the Ah receptor, contains tetratricopeptide repeat motifs, and augments the transcriptional response to 2,3,7,8-tetrachlorodibenzo-p-dioxin. J Biol Chem 272(14):8878–8884CrossRefPubMed Ma Q, Whitlock JP Jr (1997) A novel cytoplasmic protein that interacts with the Ah receptor, contains tetratricopeptide repeat motifs, and augments the transcriptional response to 2,3,7,8-tetrachlorodibenzo-p-dioxin. J Biol Chem 272(14):8878–8884CrossRefPubMed

Zurück zum Zitat Martucci F, Trivellin G, Korbonits M (2012) Familial isolated pituitary adenomas: an emerging clinical entity. J Endocrinol Invest 35(11):1003–1014CrossRefPubMed Martucci F, Trivellin G, Korbonits M (2012) Familial isolated pituitary adenomas: an emerging clinical entity. J Endocrinol Invest 35(11):1003–1014CrossRefPubMed

Zurück zum Zitat Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, Levy MJ, Orme SM, Akker SA, Abel RL, Grossman AB, Burger J, Ellard S, Korbonits M (2011) AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med 364(1):43–50CrossRefPubMed Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, Levy MJ, Orme SM, Akker SA, Abel RL, Grossman AB, Burger J, Ellard S, Korbonits M (2011) AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med 364(1):43–50CrossRefPubMed

Zurück zum Zitat Oriola J, Lucas T, Halperin I, Mora M, Perales MJ, Alvarez-Escola C, de Paz MN, Diaz SG, Salinas I, Julian MT, Olaizola I, Bernabeu I, Marazuela M, Puig-Domingo M (2013) Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues. Eur J Endocrinol 168(1):9–13CrossRefPubMed Oriola J, Lucas T, Halperin I, Mora M, Perales MJ, Alvarez-Escola C, de Paz MN, Diaz SG, Salinas I, Julian MT, Olaizola I, Bernabeu I, Marazuela M, Puig-Domingo M (2013) Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues. Eur J Endocrinol 168(1):9–13CrossRefPubMed

Zurück zum Zitat Cazabat L, Guillaud-Bataille M, Bertherat J, Raffin-Sanson ML (2009) Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas. Horm Res 71(3):132–141CrossRefPubMed Cazabat L, Guillaud-Bataille M, Bertherat J, Raffin-Sanson ML (2009) Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas. Horm Res 71(3):132–141CrossRefPubMed

Zurück zum Zitat Cazabat L, Bouligand J, Chanson P (2011) AIP mutation in pituitary adenomas. N Engl J Med 364(20):1973–1974CrossRefPubMed Cazabat L, Bouligand J, Chanson P (2011) AIP mutation in pituitary adenomas. N Engl J Med 364(20):1973–1974CrossRefPubMed

Zurück zum Zitat Schofl C, Honegger J, Droste M, Grussendorf M, Finke R, Plockinger U, Berg C, Willenberg HS, Lammert A, Klingmuller D, Jaursch-Hancke C, Tonjes A, Schneidewind S, Flitsch J, Bullmann C, Dimopoulou C, Stalla G, Mayr B, Hoeppner W, Schopohl J (2014) Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. J Clin Endocrinol Metab 99(12):E2789–E2793. doi:10.1210/jc.2014-2094 CrossRefPubMed Schofl C, Honegger J, Droste M, Grussendorf M, Finke R, Plockinger U, Berg C, Willenberg HS, Lammert A, Klingmuller D, Jaursch-Hancke C, Tonjes A, Schneidewind S, Flitsch J, Bullmann C, Dimopoulou C, Stalla G, Mayr B, Hoeppner W, Schopohl J (2014) Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. J Clin Endocrinol Metab 99(12):E2789–E2793. doi:10.​1210/​jc.​2014-2094 CrossRefPubMed

Zurück zum Zitat Preda V, Korbonits M, Cudlip S, Karavitaki N, Grossman AB (2014) Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort. Eur J Endocrinol 171(5):659–666CrossRefPubMed Preda V, Korbonits M, Cudlip S, Karavitaki N, Grossman AB (2014) Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort. Eur J Endocrinol 171(5):659–666CrossRefPubMed

Zurück zum Zitat Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A (2010) The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet 78(5):457–463PubMedCentralCrossRefPubMed Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A (2010) The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet 78(5):457–463PubMedCentralCrossRefPubMed

Zurück zum Zitat Chamary JV, Hurst LD (2005) Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals. Genome Biol 6(9):R75PubMedCentralCrossRefPubMed Chamary JV, Hurst LD (2005) Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals. Genome Biol 6(9):R75PubMedCentralCrossRefPubMed

Zurück zum Zitat Hunt RC, Simhadri VL, Iandoli M, Sauna ZE, Kimchi-Sarfaty C (2014) Exposing synonymous mutations. Trends Genet 30(7):308–321CrossRefPubMed Hunt RC, Simhadri VL, Iandoli M, Sauna ZE, Kimchi-Sarfaty C (2014) Exposing synonymous mutations. Trends Genet 30(7):308–321CrossRefPubMed

Zurück zum Zitat Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M (2010) Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat 31(8):950–960PubMedCentralCrossRefPubMed Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M (2010) Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat 31(8):950–960PubMedCentralCrossRefPubMed

Zurück zum Zitat Akashi H (2001) Gene expression and molecular evolution. Curr Opin Genet Dev 11(6):660–666CrossRefPubMed Akashi H (2001) Gene expression and molecular evolution. Curr Opin Genet Dev 11(6):660–666CrossRefPubMed

Zurück zum Zitat Carlini DB, Chen Y, Stephan W (2001) The relationship between third-codon position nucleotide content, codon bias, mRNA secondary structure and gene expression in the drosophilid alcohol dehydrogenase genes Adh and Adhr. Genetics 159(2):623–633PubMedCentralPubMed Carlini DB, Chen Y, Stephan W (2001) The relationship between third-codon position nucleotide content, codon bias, mRNA secondary structure and gene expression in the drosophilid alcohol dehydrogenase genes Adh and Adhr. Genetics 159(2):623–633PubMedCentralPubMed

Zurück zum Zitat Chen Y, Carlini DB, Baines JF, Parsch J, Braverman JM, Tanda S, Stephan W (1999) RNA secondary structure and compensatory evolution. Genes Genet Syst 74(6):271–286CrossRefPubMed Chen Y, Carlini DB, Baines JF, Parsch J, Braverman JM, Tanda S, Stephan W (1999) RNA secondary structure and compensatory evolution. Genes Genet Syst 74(6):271–286CrossRefPubMed

Zurück zum Zitat Parsch J, Tanda S, Stephan W (1997) Site-directed mutations reveal long-range compensatory interactions in the Adh gene of Drosophila melanogaster. Proc Natl Acad Sci USA 94(3):928–933PubMedCentralCrossRefPubMed Parsch J, Tanda S, Stephan W (1997) Site-directed mutations reveal long-range compensatory interactions in the Adh gene of Drosophila melanogaster. Proc Natl Acad Sci USA 94(3):928–933PubMedCentralCrossRefPubMed

Zurück zum Zitat Jin Y, Dietz HC, Montgomery RA, Bell WR, McIntosh I, Coller B, Bray PF (1996) Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J Clin Invest 98(8):1745–1754PubMedCentralCrossRefPubMed Jin Y, Dietz HC, Montgomery RA, Bell WR, McIntosh I, Coller B, Bray PF (1996) Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J Clin Invest 98(8):1745–1754PubMedCentralCrossRefPubMed

Zurück zum Zitat Liu H, Fu XA, Yu YX, Yu GQ, Yan XX, Liu HX, Tian HQ, Zhang FR (2011) Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. Clin Exp Dermatol 36(7):797–799CrossRefPubMed Liu H, Fu XA, Yu YX, Yu GQ, Yan XX, Liu HX, Tian HQ, Zhang FR (2011) Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. Clin Exp Dermatol 36(7):797–799CrossRefPubMed

Zurück zum Zitat Duan J, Antezana MA (2003) Mammalian mutation pressure, synonymous codon choice, and mRNA degradation. J Mol Evol 57(6):694–701CrossRefPubMed Duan J, Antezana MA (2003) Mammalian mutation pressure, synonymous codon choice, and mRNA degradation. J Mol Evol 57(6):694–701CrossRefPubMed