| 1 | GNAS, GPR174
|
| GPR174 signals via Gαs to control a CD86-containing gene expression program in B cells
|
| Wolf EW, Howard ZP, Duan L, Tam H, Xu Y, Cyster JG.
|
| Proc Natl Acad Sci U S A. Jun 7;119(23):e2201794119. doi: 10.1073/pnas.2201794119. Epub 2022 May 31 2022
|
| 2 | GNAS, XLAS
|
| New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling.
|
| Eaton SA, Williamson CM, Ball ST, Beechey CV, Moir L, Edwards J, Teboul L, Maconochie M, Peters J.
|
| Mol Cell Biol 32(5):1017-29. doi: 10.1128/MCB.06174-11. Epub 2012 Jan 3.
2012
|
| 3 | CCDC88A, EEA1, GNAS
|
| Gαs promotes EEA1 endosome maturation and shuts down proliferative signaling through interaction with GIV (Girdin).
|
| Beas AO, Taupin V, Teodorof C, Nguyen LT, Garcia-Marcos M, Farquhar MG.
|
| Mol Biol Cell 23(23):4623-34. doi: 10.1091/mbc.E12-02-0133. Epub 2012 Oct 10.
2012
|
| 4 | GNAS, PHP1B
|
| Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
|
| Maupetit-Méhouas S, Mariot V, Reynès C, Bertrand G, Feillet F, Carel JC, Simon D, Bihan H, Gajdos V, Devouge E, Shenoy S, Agbo-Kpati P, Ronan A, Naud-Saudreau C, Lienhardt A, Silve C, Linglart A.
|
| J Med Genet 48(1):55-63. Epub 2010 Oct 23.
2011
|
| 5 | GNAS, PHP1A, PHP1B
|
| Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
|
| Fernandez-Rebollo E, García-Cuartero B, Garin I, Largo C, Martínez F, Garcia-Lacalle C, Castaño L, Bastepe M, Pérez de Nanclares G.
|
| J Clin Endocrinol Metab 95(2):765-71. Epub 2009 Dec 11.
2010
|
| 6 | GNAS, PHP1A, PHP1B
|
| Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
|
| Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A.
|
| J Clin Endocrinol Metab 95(2):651-8. Epub 2010 Jan 8.PMID: 20061437 2010
|
| 7 | GNAS, POH
|
| Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
|
| Lebrun M, Richard N, Abeguilé G, David A, Coëslier Dieux A, Journel H, Lacombe D, Pinto G, Odent S, Salles JP, Taieb A, Gandon-Laloum S, Kottler ML.
|
| J Clin Endocrinol Metab 95(6):3028-38. Epub 2010 Apr 28.PMID: 20427508 2010
|
| 8 | DEL20Q13, DEL20QD, GNAS
|
| Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus.
|
| Kelsey G.
|
| Am J Med Genet C Semin Med Genet 154C(3):377-86. Review.PMID: 20803660 2010
|
| 9 | BWS, GNAS, KCNQ1OT1, PLAGL1
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| Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
|
| Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A.
|
| Eur J Hum Genet 17(5):611-9. Epub 2008 Dec 17.
2009
|
| 10 | GNAS, PHP1A
|
| Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.
|
| Graul-Neumann LM, Bach A, Albani M, Ringe H, Weimann A, Kress W, Hiort O, Bartsch O.
|
| Am J Med Genet A 149A(7):1487-93.PMID: 19530187 2009
|
| 11 | GNAS, PHP1B
|
| A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
|
| Mariot V, Maupetit-MŽhouas S, Sinding C, Kottler ML, Linglart A.
|
| J Clin Endocrinol Metab 93(3):661-5. Epub 2008 Jan 8. 2008
|
| 12 | GNAS
|
| Association of the GNAS locus with severe malaria.
|
| Auburn S, Diakite M, Fry AE, Ghansah A, Campino S, Richardson A, Jallow M, Sisay-Joof F, Pinder M, Griffiths MJ, Peshu N, Williams TN, Marsh K, Molyneux ME, Taylor TE, Koram KA, Oduro AR, Rogers WO, Rockett KA, Haldar K, Kwiatkowski DP.
|
| Hum Genet 124(5):499-506. Epub 2008 Oct 26.
2008
|
| 13 | GNAS
|
| Mutation T/C,Ile 131 of the gene encoding the alfa subunit of the human Gs protein and predisposition to vasovagal syncope.
|
| Lelonek M, Pietrucha T, Matyjaszczyk M, Goch JH.
|
| Circ J 72(4):558-62.PMID: 18362425 2008
|
| 14 | GNAS, PHP1A, PHP1B, PHP1C
|
| Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
|
| de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M.
|
| J Clin Endocrinol Metab 92(6):2370-3. Epub 2007 Apr 3. 2007
|
| 15 | GNAS, PHP1C
|
| A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
|
| Thiele S, Werner R, Ahrens W, Hoppe U, Marschke C, Staedt P, Hiort O.
|
| J Clin Endocrinol Metab 92(5):1764-8. Epub 2007 Feb 13. 2007
|
| 16 | GNAS
|
| Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients.
|
| Eggermann T, Meyer E, Schonherr N, Flick F, Chauvistre H, Mavany M, Wollmann HA.
|
| Mol Genet Metab 90(2):224-6. Epub 2006 Oct 23. No abstract available. 2007
|
| 17 | GNAS, PHP1A
|
| Genetics of pseudohypoparathyroidism types Ia and Ic.
|
| Aldred MA.
|
| J Pediatr Endocrinol Metab 19 Suppl 2:635-40. Review. 2006
|
| 18 | GNAS, STX16, PHP1A, PHP1B
|
| Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
|
| Juppner H, Bastepe M.
|
| J Pediatr Endocrinol Metab 19 Suppl 2:641-6. Review. 2006
|
| 19 | MCAS, GNAS
|
| Genetics of McCune-Albright syndrome.
|
| de Sanctis L, Delmastro L, Russo MC, Matarazzo P, Lala R, de Sanctis C.
|
| J Pediatr Endocrinol Metab 19 Suppl 2:577-82. Review. 2006
|
| 20 | GNAS
|
| Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
|
| Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Juppner H.
|
| Nat Genet 37(1):25-7. Epub 2004 Dec 12. 2005
|
| 21 | GNAS, STX16, PHP1B
|
| Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.
|
| Liu J, Nealon JG, Weinstein LS.
|
| Hum Mol Genet 14(1):95-102. Epub 2004 Nov 10. 2005
|
| 22 | GNAS, DEL20Q13
|
| Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
|
| Genevieve D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguile G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M.
|
| Eur J Hum Genet 13(9):1033-9. 2005
|
| 23 | GNAS
|
| GNAS locus and pseudohypoparathyroidism.
|
| Bastepe M, Juppner H.
|
| Horm Res 63(2):65-74. Epub 2005 Feb 9. Review. 2005
|
| 24 | GNAS
|
| Deficiency of the G-protein alpha-subunit G(s)alpha in osteoblasts leads to differential effects on trabecular and cortical bone.
|
| Sakamoto A, Chen M, Nakamura T, Xie T, Karsenty G, Weinstein LS.
|
| J Biol Chem 280(22):21369-75. Epub 2005 Mar 28. 2005
|
| 25 | GNAS
|
| Chondrocyte-specific knockout of the G protein G(s)alpha leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation.
|
| Sakamoto A, Chen M, Kobayashi T, Kronenberg HM, Weinstein LS.
|
| J Bone Miner Res 20(4):663-71. Epub 2004 Dec 6. 2005
|
| 26 | GNAS
|
| Tissue-specific imprinting of the G protein Gsalpha is associated with tissue-specific differences in histone methylation.
|
| Sakamoto A, Liu J, Greene A, Chen M, Weinstein LS.
|
| Hum Mol Genet 13(8):819-28. Epub 2004 Feb 19. 2004
|
| 27 | GNAS, RASGRF1
|
| The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding.
|
| Plagge A, Gordon E, Dean W, Boiani R, Cinti S, Peters J, Kelsey G.
|
| Nat Genet 36(8):818-26. Epub 2004 Jul 25. 2004
|
| 28 | GNAS
|
| A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas.
|
| Williamson CM, Ball ST, Nottingham WT, Skinner JA, Plagge A, Turner MD, Powles N, Hough T, Papworth D, Fraser WD, Maconochie M, Peters J.
|
| Nat Genet 36(8):894-9. Epub 2004 Jul 25. 2004
|
| 29 | GNAS
|
| Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
|
| Mantovani G, Bondioni S, Locatelli M, Pedroni C, Lania AG, Ferrante E, Filopanti M, Beck-Peccoz P, Spada A.
|
| J Clin Endocrinol Metab 89(12):6316-9. 2004
|
| 30 | GNAS, MCAS
|
| Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
|
| Lumbroso S, Paris F, Sultan C; European Collaborative Study.
|
| J Clin Endocrinol Metab 89(5):2107-13.
2004
|
| 31 | GNAS
|
| Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
|
| Rickard SJ, Wilson LC.
|
| Am J Hum Genet 72(4):961-74. Epub 2003 Mar 06. 2003
|
| 32 | GNAS, MCAS
|
| Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.
|
| Collins MT, Sarlis NJ, Merino MJ, Monroe J, Crawford SE, Krakoff JA, Guthrie LC, Bonat S, Robey PG, Shenker A.
|
| J Clin Endocrinol Metab 88(9):4413-7.
2003
|
| 33 | GNAS, PHP1B
|
| Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
|
| Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H.
|
| J Clin Invest 112(8):1255-63. 2003
|
| 34 | GNAS
|
| Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus.
|
| Coombes C, Arnaud P, Gordon E, Dean W, Coar EA, Williamson CM, Feil R, Peters J, Kelsey G.
|
| Mol Cell Biol 23(16):5475-88. 2003
|
| 35 | GNAS, PHP1C, PPHP
|
| Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
|
| De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scire G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I.
|
| Pediatr Res 53(5):749-55. Epub 2003 Mar 5. 2003
|
| 36 | GNAS, POH
|
| Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
|
| Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS.
|
| N Engl J Med 346(2):99-106. 2002
|
| 37 | GNAS, PHP1B
|
| Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.
|
| Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts MF, Vermylen J, Van Geet C.
|
| Hum Mol Genet 11(22):2741-50. 2002
|
| 38 | DEL20Q13, GNAS, PHP1A, PHP1C
|
| Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
|
| Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L.
|
| Am J Med Genet 113(2):167-72. 2002
|
| 39 | GNAS, MCAS
|
| Fibrous dysplasia is a neoplasm.
|
| Cohen MM Jr.
|
| Am J Med Genet 98(4):290-3. No abstract available. 2001
|
| 40 | GNAS, GNASAS, PHP1B, XLAS
|
| Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.
|
| Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Juppner H.
|
| Hum Mol Genet 10(12):1231-41. 2001
|
| 41 | BCYRN1, DISC2, GNAS, H19, IPW, KCNQ1OT1, NTT, SNORD22, SCA8, TSIX, UBE3A, XIST, MKRN3AS
|
| The non-coding RNAs as riboregulators.
|
| Erdmann VA, Barciszewska MZ, Szymanski M, Hochberg A, de Groot N, Barciszewski J.
|
| Nucleic Acids Res 29(1):189-93. 2001
|
| 42 | GNAS
|
| Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
|
| Ishikawa Y, Tajima T, Nakae J, Nagashima T, Satoh K, Okuhara K, Fujieda K.
|
| J Hum Genet 46(7):426-30. 2001
|
| 43 | GNAS, MCAS
|
| Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.
|
| Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, Corsi A, Bone HG, Wientroub S, Spiegel AM, Fisher LW, Robey PG.
|
| J Bone Miner Res 15(1):120-8. 2000
|
| 44 | GNAS, GNASAS
|
| An imprinted antisense transcript at the human GNAS1 locus.
|
| Hayward BE, Bonthron DT.
|
| Hum Mol Genet 9(5):835-41. 2000
|
| 45 | GNAS, MCAS
|
| Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis.
|
| Silva ES, Lumbroso S, Medina M, Gillerot Y, Sultan C, Sokal EM.
|
| J Hepatol 32(1):154-8. 2000
|
| 46 | CTSZ, GNAS, TH1L
|
| Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13.
|
| Bonthron DT, Hayward BE, Moran V, Strain L.
|
| Hum Genet 107(2):165-75. 2000
|
| 47 | GNAS, GNASAS, XLAS
|
| Tissue-specific expression of antisense and sense transcripts at the imprinted gnas locus
|
| Li T, Vu TH, Zeng ZL, Nguyen BT, Hayward BE, Bonthron DT, Hu JF, Hoffman AR.
|
| Genomics 69(3):295-304. 2000
|
| 48 | GNAS
|
| Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein.
|
| Weiss U, Ischia R, Eder S, Lovisetti-Scamihorn P, Bauer R, Fischer-Colbrie R.
|
| Neuroendocrinology 71(3):177-86. 2000
|
| 49 | GNAS
|
| Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1.
|
| Kim SJ, Gonen D, Hanna GL, Leventhal BL, Cook EH Jr.
|
| Mol Cell Probes 14(3):191-4. 2000
|
| 50 | GNAS, PAD
|
| Activating and inactivating mutations in the human GNAS1 gene.
|
| Aldred MA, Trembath RC.
|
| Hum Mutat 16(3):183-9. Review. 2000
|
| 51 | GNAS
|
| A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity.
|
| Warner DR, et al.
|
| Proc Natl Acad Sci U S A 96(8):4268-72. 1999
|
| 52 | GNAS, PHP1A
|
| Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
|
| Nakamoto JM, et al.
|
| Am J Med Genet 77 : 261-267. 1998
|
| 53 | GNAS
|
| XL alpha s is a paternally derived protein product of the human GNAS1 gene. (abstr)
|
| Hayward B, et al.
|
| Eur J Hum Genet 6 : C305. 1998
|
| 54 | GNAS
|
| The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.
|
| Hayward BE, et al.
|
| Proc Natl Acad Sci U S A 95 : 10038-10043. 1998
|
| 55 | PHP1B, GNAS
|
| The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
|
| JŸppner H, et al.
|
| Proc Natl Acad Sci U S A 95 : 11798-11803. 1998
|
| 56 | GNAS, PHP1A
|
| GNAS1 mutational analysis in pseudohypoparathyroidism.
|
| Ahmed SF, et al.
|
| Clin Endocrinol (Oxf) 49(4):525-31. 1998
|
| 57 | GNAS
|
| Mutations at the domain interface of GSalpha impair receptor-mediated activation by altering receptor and guanine nucleotide binding.
|
| Grishina G, et al.
|
| J Biol Chem 273(24):15053-60. 1998
|
| 58 | GNAS, PHP1A
|
| A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
|
| Warner DR, et al.
|
| J Biol Chem 273(37):23976-83. 1998
|
| 59 | GNAS, GNASAS, XLAS
|
| Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.
|
| Hayward BE, Moran V, Strain L, Bonthron DT.
|
| Proc Natl Acad Sci U S A 95(26):15475-80. 1998
|
| 60 | GNAS, PHP1A
|
| Normal erythrocyte membrane Gsalpha bioactivity in two unrelated patients with acrodysostosis.
|
| Wilson LC, et al.
|
| J Med Genet 34 : 133-136. 1997
|
| 61 | GNAS
|
| A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
|
| Warner DR, Gejman PV, Collins RM, Weinstein LS.
|
| Mol Endocrinol 11(11):1718-27. 1997
|
| 62 | GNAS
|
| Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity.
|
| Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R.
|
| J Biol Chem 272(17):11657-62. 1997
|
| 63 | PHP1A, GNAS
|
| Pseudohypoparathyroidism type Ia : two new heterozygous frameshift mutations in exons 5 and 10 of the Gsalpha gene.
|
| Shapira H, et al.
|
| Hum Genet 97 : 73-75. 1996
|
| 64 | CNC1, GNAS, TSG2B
|
| Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsalpha gene.
|
| DeMarco L, et al.
|
| Hum Genet 98 : 185-188. 1996
|
| 65 | GNAS, PHP1A
|
| Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of G s alpha impairs receptor stimulation.
|
| Farfel Z, et al.
|
| J Biol Chem 271 : 19653-19655. 1996
|
| 66 | PHP1A, GNAS
|
| Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy : no evidence of genomic imprinting.
|
| Schuster V, et al.
|
| J Med Genet 31 : 84-86. 1994
|
| 67 | GNAS
|
| Polymorphism of the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase (GNAS1).
|
| Waltman C, et al.
|
| Hum Genet 93 : 477-478. 1994
|
| 68 | GNAS, PHP1A
|
| Characterization of a De novo 43-bp deletion of the GSalpha gene (GNAS1) in Albright hereditary osteodystrophy.
|
| Oude Luttikhuis MEM, et al.
|
| Genomics 21 : 455-457. 1994
|
| 69 | PHP1A, GNAS
|
| Parental origin of Gsalpha gene mutations in Albright's hereditary osteodystrophy.
|
| Wilson LC, et al.
|
| J Med Genet 31 : 835-839. 1994
|
| 70 | PHP1A, GNAS
|
| A novel Gsalpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
|
| Schwindinger WF, et al.
|
| J Biol Chem 269 : 25387-25391. 1994
|
| 71 | GNAS
|
| Rapid GDP release from Gsalpha in patients with gain and loss of endocrine function.
|
| Iiri T, et al.
|
| Nature 371 : 164-168. 1994
|
| 72 | GNAS, XLAS
|
| XL alpha s is a new type of G protein.
|
| Kehlenbach RH, Matthey J, Huttner WB.
|
| Nature 372(6508):804-9. 1994
|
| 73 | MCAS, GNAS
|
| Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein Gs.
|
| Shenker A, et al.
|
| J Pediatr 123 : 509-518. 1993
|
| 74 | GNAS, PHP1A, PHP1C
|
| Imprinting in Albright's hereditary osteodystrophy.
|
| Davies SJ, et al.
|
| J Med Genet 30 : 101-103. 1993
|
| 75 | PHP1A, GNAS
|
| Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
|
| Schwindinger WF, et al.
|
| Proc Natl Acad Sci U S A 89 : 5152-5156. 1992
|
| 76 | PHP1A, GNAS
|
| Prevalence of three mutations in the Gs-alpha gene among 24 families with pseudohypoparathyroidism type Ia.
|
| Lin CK, et al.
|
| Biochem Biophys Res Commun 189 : 343-349. 1992
|
| 77 | GNAS
|
| Dinucleotide repeat polymorphism in Gs-alpha subunit gene (GNAS1) on chromosome 20.
|
| Granqvist M, et al.
|
| Nucleic Acids Res 19 : 4569. 1991
|
| 78 | GNAS
|
| Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization.
|
| Levine MA, et al.
|
| Genomics 11 : 478-479. 1991
|
| 79 | GNAS, GNB1
|
| Chromosomal assignment of two GTP binding protein subunit genes : the alpha subunit of adenylyl cyclase (GNAS) and the beta 1 polypeptide (GNB).
|
| Modi WS, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1860. 1991
|
| 80 | GNAS
|
| Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
|
| Weinstein LS, et al.
|
| N Engl J Med 325 : 1688-1695. 1991
|
| 81 | GNAS
|
| Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis.
|
| Gejman PV, et al.
|
| Genomics 9 : 782-783. 1991
|
| 82 | PHP1A, GNAS
|
| G protein Gs-alpha (GNAS1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2.
|
| Rao VVNG, et al.
|
| Genomics 10 : 257-261. 1991
|
| 83 | PHP1A, GNAS
|
| Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
|
| Patten JL, et al.
|
| N Engl J Med 322 : 1412-1419. 1990
|
| 84 | PHP1A, GNAS
|
| Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.
|
| Weinstein LS, et al.
|
| Proc Natl Acad Sci U S A 87 : 8287-8290. 1990
|
| 85 | GNAS
|
| Splice variants of the alpha subunit of the G protein Gs activate both adenylyl cyclase and calcium channels.
|
| Mattera R, Graziano MP, Yatani A, Zhou Z, Graf R, Codina J, Birnbaumer L, Gilman AG, Brown AM.
|
| Science 243(4892):804-7. 1989
|
| 86 | GNAI1, GNAI2, GNAI2L, GNAI3, GNAZ, GNAS, GNAT1, GNAT2, GNB1, GNB2
|
| Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human.
|
| Blatt C, Eversole-Cire P, Cohn VH, Zollman S, Fournier RE, Mohandas LT, Nesbitt M, Lugo T, Jones DT, Reed RR, et al.
|
| Proc Natl Acad Sci U S A 85 : 7642-7646. 1988
|
| 87 | PHP1A, GNAS
|
| Genetic deficiency of the a subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.
|
| Levine MA, et al.
|
| Proc Natl Acad Sci U S A 85 : 617-621. 1988
|
| 88 | GNAS, PHP1C
|
| Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.
|
| Levine MA, Ahn TG, Klupt SF, Kaufman KD, Smallwood PM, Bourne HR, Sullivan KA, Van Dop C.
|
| Proc Natl Acad Sci U S A 85(2):617-21. 1988
|
| 89 | GNAT1, GNAT2, GNAI2, GNAI2L, GNAI3, GNAS, GNB1
|
| Mapping of genes encoding the subunits of guanine nucleotide-binding proteins (G-proteins) in humans.
|
| Sparkes RS, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 696. 1987
|