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Items: 1 to 50 of 84

1.

A G protein-coupled, IP3/protein kinase C pathway controlling the synthesis of phosphaturic hormone FGF23.

He Q, Shumate LT, Matthias J, Aydin C, Wein MN, Spatz JM, Goetz R, Mohammadi M, Plagge A, Divieti Pajevic P, Bastepe M.

JCI Insight. 2019 Sep 5;4(17). pii: 125007. doi: 10.1172/jci.insight.125007.

2.

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.

Karaca A, Reyes M, Shumate LT, Taskaldiran I, Omma T, Ersoz Gulcelik N, Bastepe M.

Bone. 2019 Jun;123:153-158. doi: 10.1016/j.bone.2019.03.028. Epub 2019 Mar 23.

PMID:
30914275
3.

A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner.

Bastepe M.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3514-3515. doi: 10.1210/jc.2018-01340. No abstract available.

4.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review.

5.

Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth.

Karaca A, Malladi VR, Zhu Y, Tafaj O, Paltrinieri E, Wu JY, He Q, Bastepe M.

Bone. 2018 May;110:230-237. doi: 10.1016/j.bone.2018.02.016. Epub 2018 Feb 20.

6.

Large G protein α-subunit XLαs limits clathrin-mediated endocytosis and regulates tissue iron levels in vivo.

He Q, Bouley R, Liu Z, Wein MN, Zhu Y, Spatz JM, Wang CY, Divieti Pajevic P, Plagge A, Babitt JL, Bastepe M.

Proc Natl Acad Sci U S A. 2017 Nov 7;114(45):E9559-E9568. doi: 10.1073/pnas.1712670114. Epub 2017 Oct 23.

7.

GNAS mutations and heterotopic ossification.

Bastepe M.

Bone. 2018 Apr;109:80-85. doi: 10.1016/j.bone.2017.09.002. Epub 2017 Sep 6. Review.

8.

A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.

Reyes M, Karaca A, Bastepe M, Gulcelik NE, Jüppner H.

Bone. 2017 Oct;103:281-286. doi: 10.1016/j.bone.2017.07.013. Epub 2017 Jul 12.

9.

Heterotrimeric G proteins in the control of parathyroid hormone actions.

Bastepe M, Turan S, He Q.

J Mol Endocrinol. 2017 May;58(4):R203-R224. doi: 10.1530/JME-16-0221. Review.

10.

A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.

Wentworth K, Hsing A, Urrutia A, Zhu Y, Horvai AE, Bastepe M, Hsiao EC.

Case Rep Endocrinol. 2016;2016:2691385. doi: 10.1155/2016/2691385. Epub 2016 Aug 7.

11.

Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.

Zhu Y, He Q, Aydin C, Rubera I, Tauc M, Chen M, Weinstein LS, Marshansky V, Jüppner H, Bastepe M.

Endocrinology. 2016 Feb;157(2):497-507. doi: 10.1210/en.2015-1639. Epub 2015 Dec 15.

12.

Huntington Disease: Molecular Diagnostics Approach.

Bastepe M, Xin W.

Curr Protoc Hum Genet. 2015 Oct 6;87:9.26.1-23. doi: 10.1002/0471142905.hg0926s87.

PMID:
26439718
13.

The G protein α subunit variant XLαs promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo.

He Q, Zhu Y, Corbin BA, Plagge A, Bastepe M.

Sci Signal. 2015 Aug 25;8(391):ra84. doi: 10.1126/scisignal.aaa9953.

14.

Hypoparathyroidism and Pseudohypoparathyroidism.

Hendy GN, Cole DEC, Bastepe M.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
2017 Feb 19.

15.

GNAS Spectrum of Disorders.

Turan S, Bastepe M.

Curr Osteoporos Rep. 2015 Jun;13(3):146-58. doi: 10.1007/s11914-015-0268-x. Review.

16.

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.

Turan S, Thiele S, Tafaj O, Brix B, Atay Z, Abali S, Haliloglu B, Bereket A, Bastepe M.

Bone. 2015 Feb;71:53-7. doi: 10.1016/j.bone.2014.10.006. Epub 2014 Oct 18.

17.

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene.

Turan S, Bastepe M.

Horm Res Paediatr. 2013;80(4):229-41. doi: 10.1159/000355384. Epub 2013 Oct 3. Review.

18.

The β-blocker Nebivolol Is a GRK/β-arrestin biased agonist.

Erickson CE, Gul R, Blessing CP, Nguyen J, Liu T, Pulakat L, Bastepe M, Jackson EK, Andresen BT.

PLoS One. 2013 Aug 20;8(8):e71980. doi: 10.1371/journal.pone.0071980. eCollection 2013.

19.

Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.

Turan S, Fernandez-Rebollo E, Aydin C, Zoto T, Reyes M, Bounoutas G, Chen M, Weinstein LS, Erben RG, Marshansky V, Bastepe M.

J Bone Miner Res. 2014 Mar;29(3):749-60. doi: 10.1002/jbmr.2070.

20.

Genetics and epigenetics of parathyroid hormone resistance.

Bastepe M.

Endocr Dev. 2013;24:11-24. doi: 10.1159/000342494. Epub 2013 Feb 1. Review.

PMID:
23392091
21.

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.

Turan S, Ignatius J, Moilanen JS, Kuismin O, Stewart H, Mann NP, Linglart A, Bastepe M, Jüppner H.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2314-9. doi: 10.1210/jc.2012-2920. Epub 2012 Oct 18.

22.

Relative functions of Gαs and its extra-large variant XLαs in the endocrine system.

Bastepe M.

Horm Metab Res. 2012 Sep;44(10):732-40. doi: 10.1055/s-0032-1316331. Epub 2012 Jun 22. Review.

PMID:
22730013
23.

Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.

Fernández-Rebollo E, Maeda A, Reyes M, Turan S, Fröhlich LF, Plagge A, Kelsey G, Jüppner H, Bastepe M.

Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6638-43. doi: 10.1073/pnas.1117608109. Epub 2012 Apr 10.

24.

Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling.

Liu Z, Turan S, Wehbi VL, Vilardaga JP, Bastepe M.

J Biol Chem. 2011 Nov 4;286(44):38558-69. doi: 10.1074/jbc.M111.240150. Epub 2011 Sep 2.

25.

Gsα enhances commitment of mesenchymal progenitors to the osteoblast lineage but restrains osteoblast differentiation in mice.

Wu JY, Aarnisalo P, Bastepe M, Sinha P, Fulzele K, Selig MK, Chen M, Poulton IJ, Purton LE, Sims NA, Weinstein LS, Kronenberg HM.

J Clin Invest. 2011 Sep;121(9):3492-504. doi: 10.1172/JCI46406. Epub 2011 Aug 1.

26.

Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism.

Puzhko S, Goodyer CG, Kerachian MA, Canaff L, Misra M, Jüppner H, Bastepe M, Hendy GN.

J Bone Miner Res. 2011 Oct;26(10):2473-85. doi: 10.1002/jbmr.461.

27.

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

Fernández-Rebollo E, Pérez de Nanclares G, Lecumberri B, Turan S, Anda E, Pérez-Nanclares G, Feig D, Nik-Zainal S, Bastepe M, Jüppner H.

J Bone Miner Res. 2011 Aug;26(8):1854-63. doi: 10.1002/jbmr.408.

28.

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Jüppner H, Bastepe M, Hiort O.

Hum Mutat. 2011 Jun;32(6):653-60. doi: 10.1002/humu.21489. Epub 2011 Apr 12.

29.

Transgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivo.

Liu Z, Segawa H, Aydin C, Reyes M, Erben RG, Weinstein LS, Chen M, Marshansky V, Fröhlich LF, Bastepe M.

Endocrinology. 2011 Apr;152(4):1222-33. doi: 10.1210/en.2010-1034. Epub 2011 Feb 8.

30.

Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis.

Sbrocchi AM, Rauch F, Lawson ML, Hadjiyannakis S, Lawrence S, Bastepe M, Jüppner H, Ward LM.

Eur J Endocrinol. 2011 Feb;164(2):295-301. doi: 10.1530/EJE-10-0795. Epub 2010 Nov 9.

31.

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).

Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Jüppner H.

Bone. 2011 Mar 1;48(3):659-62. doi: 10.1016/j.bone.2010.10.168. Epub 2010 Oct 19.

32.

Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.

Mariot V, Wu JY, Aydin C, Mantovani G, Mahon MJ, Linglart A, Bastepe M.

Bone. 2011 Feb;48(2):312-20. doi: 10.1016/j.bone.2010.09.032. Epub 2010 Sep 29.

33.

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

Turan S, Akin L, Akcay T, Adal E, Sarikaya S, Bastepe M, Jüppner H.

Eur J Endocrinol. 2010 Sep;163(3):489-93. doi: 10.1530/EJE-10-0348. Epub 2010 Jun 10.

34.

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Mäkitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kröger H, Cole WG, Jüppner H.

J Bone Miner Res. 2010 Oct;25(10):2165-74. doi: 10.1002/jbmr.105.

35.

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis.

Chillambhi S, Turan S, Hwang DY, Chen HC, Jüppner H, Bastepe M.

J Clin Endocrinol Metab. 2010 Aug;95(8):3993-4002. doi: 10.1210/jc.2009-2205. Epub 2010 May 5.

36.

Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib.

Fröhlich LF, Mrakovcic M, Steinborn R, Chung UI, Bastepe M, Jüppner H.

Proc Natl Acad Sci U S A. 2010 May 18;107(20):9275-80. doi: 10.1073/pnas.0910224107. Epub 2010 Apr 28.

37.

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. 2010 Feb;95(2):765-71. doi: 10.1210/jc.2009-1581. Epub 2009 Dec 11.

38.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

Lecumberri B, Fernández-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Bustos JM, Castaño L, de Santiago M, Hiort O, Pérez de Nanclares G, Bastepe M.

J Med Genet. 2010 Apr;47(4):276-80. doi: 10.1136/jmg.2009.071001. Epub 2009 Oct 26.

39.

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

Turan S, Aydin C, Bereket A, Akcay T, Güran T, Yaralioglu BA, Bastepe M, Jüppner H.

Bone. 2010 Feb;46(2):402-9. doi: 10.1016/j.bone.2009.09.016. Epub 2009 Sep 29.

40.

Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha).

Aydin C, Aytan N, Mahon MJ, Tawfeek HA, Kowall NW, Dedeoglu A, Bastepe M.

Endocrinology. 2009 Aug;150(8):3567-75. doi: 10.1210/en.2009-0318. Epub 2009 May 7.

41.

Coupling of beta2-adrenoceptors to XLalphas and Galphas: a new insight into ligand-induced G protein activation.

Kaya AI, Ugur O, Oner SS, Bastepe M, Onaran HO.

J Pharmacol Exp Ther. 2009 Apr;329(1):350-9. doi: 10.1124/jpet.108.149989. Epub 2009 Jan 14.

42.

NHERF1 mutations and responsiveness of renal parathyroid hormone.

Bergwitz C, Bastepe M.

N Engl J Med. 2008 Dec 11;359(24):2615-6; author reply 2616-7. doi: 10.1056/NEJMc086284. No abstract available.

PMID:
19073985
43.

Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid.

Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, Bayraktar M.

Am J Med Sci. 2008 Jul;336(1):84-90. doi: 10.1097/MAJ.0b013e31815b218f.

PMID:
18626245
44.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

Adv Exp Med Biol. 2008;626:27-40. Review.

PMID:
18372789
45.

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.

Bastepe M, Jüppner H.

Rev Endocr Metab Disord. 2008 Jun;9(2):171-80. doi: 10.1007/s11154-008-9075-3. Epub 2008 Mar 26. Review.

PMID:
18365315
46.

The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts.

Bastepe M.

Curr Genomics. 2007 Sep;8(6):398-414. doi: 10.2174/138920207783406488.

48.

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. 2007 Jun;92(6):2370-3. Epub 2007 Apr 3.

PMID:
17405843
49.

Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.

Fröhlich LF, Bastepe M, Ozturk D, Abu-Zahra H, Jüppner H.

Endocrinology. 2007 Jun;148(6):2925-35. Epub 2007 Feb 22.

PMID:
17317779
50.

Dosage-dependent switch from G protein-coupled to G protein-independent signaling by a GPCR.

Sun Y, Huang J, Xiang Y, Bastepe M, Jüppner H, Kobilka BK, Zhang JJ, Huang XY.

EMBO J. 2007 Jan 10;26(1):53-64. Epub 2006 Dec 14.

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