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Murat Bastepe, Ph.D., M.D.

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  1. R01DK073911 (BASTEPE, MURAT) Dec 1, 2005 - Nov 30, 2020
    NIH/NIDDK
    XLas Relative to Gsa in Bone and Mineral Ion Metabolism
    Role: Principal Investigator
  2. K01DK062973 (BASTEPE, MURAT) Jul 1, 2003 - Jun 30, 2006
    NIH/NIDDK
    Characterization of the "Gs-like" activity of Xlas
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Bastepe M. A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner. J Clin Endocrinol Metab. 2018 Sep 01; 103(9):3514-3515. PMID: 30020481.
    View in: PubMed
  2. 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. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug; 14(8):476-500. PMID: 29959430.
    View in: PubMed
  3. Karaca A, Malladi VR, Zhu Y, Tafaj O, Paltrinieri E, Wu JY, He Q, Bastepe M. Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth. Bone. 2018 05; 110:230-237. PMID: 29471062.
    View in: PubMed
  4. He Q, Bouley R, Liu Z, Wein MN, Zhu Y, Spatz JM, Wang CY, Divieti Pajevic P, Plagge A, Babitt JL, Bastepe M. Large G protein a-subunit XLas limits clathrin-mediated endocytosis and regulates tissue iron levels in vivo. Proc Natl Acad Sci U S A. 2017 11 07; 114(45):E9559-E9568. PMID: 29078380.
    View in: PubMed
  5. Bastepe M. GNAS mutations and heterotopic ossification. Bone. 2018 04; 109:80-85. PMID: 28889026.
    View in: PubMed
  6. Reyes M, Karaca A, Bastepe M, Gulcelik NE, Jüppner H. A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B. Bone. 2017 Oct; 103:281-286. PMID: 28711660.
    View in: PubMed
  7. Bastepe M, Turan S, He Q. Heterotrimeric G proteins in the control of parathyroid hormone actions. J Mol Endocrinol. 2017 May; 58(4):R203-R224. PMID: 28363951.
    View in: PubMed
  8. Wentworth K, Hsing A, Urrutia A, Zhu Y, Horvai AE, Bastepe M, Hsiao EC. A Novel T55A Variant of Gs a Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis. Case Rep Endocrinol. 2016; 2016:2691385. PMID: 27579188; PMCID: PMC4992514.
  9. Zhu Y, He Q, Aydin C, Rubera I, Tauc M, Chen M, Weinstein LS, Marshansky V, Jüppner H, Bastepe M. Ablation of the Stimulatory G Protein a-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D. Endocrinology. 2016 Feb; 157(2):497-507. PMID: 26671181; PMCID: PMC4733111 [Available on 02/01/17].
  10. Bastepe M, Xin W. Huntington Disease: Molecular Diagnostics Approach. Curr Protoc Hum Genet. 2015 Oct 06; 87:9.26.1-23. PMID: 26439718.
    View in: PubMed
  11. He Q, Zhu Y, Corbin BA, Plagge A, Bastepe M. The G protein a subunit variant XLas promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo. Sci Signal. 2015 Aug 25; 8(391):ra84. PMID: 26307011; PMCID: PMC4618482.
  12. Turan S, Bastepe M. GNAS Spectrum of Disorders. Curr Osteoporos Rep. 2015 Jun; 13(3):146-58. PMID: 25851935; PMCID: PMC4417430.
  13. Turan S, Thiele S, Tafaj O, Brix B, Atay Z, Abali S, Haliloglu B, Bereket A, Bastepe M. Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS. Bone. 2015 Feb; 71:53-7. PMID: 25464124; PMCID: PMC4273232.
  14. Turan S, Fernandez-Rebollo E, Aydin C, Zoto T, Reyes M, Bounoutas G, Chen M, Weinstein LS, Erben RG, Marshansky V, Bastepe M. Postnatal establishment of allelic Gas silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gas disruption. J Bone Miner Res. 2014 Mar; 29(3):749-60. PMID: 23956044; PMCID: PMC3926912.
  15. Turan S, Bastepe M. The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene. Horm Res Paediatr. 2013; 80(4):229-41. PMID: 24107509; PMCID: PMC3874326.
  16. Erickson CE, Gul R, Blessing CP, Nguyen J, Liu T, Pulakat L, Bastepe M, Jackson EK, Andresen BT. The ß-blocker Nebivolol Is a GRK/ß-arrestin biased agonist. PLoS One. 2013; 8(8):e71980. PMID: 23977191.
    View in: PubMed
  17. Bastepe M. Genetics and epigenetics of parathyroid hormone resistance. Endocr Dev. 2013; 24:11-24. PMID: 23392091.
    View in: PubMed
  18. Turan S, Ignatius J, Moilanen JS, Kuismin O, Stewart H, Mann NP, Linglart A, Bastepe M, Jüppner H. De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. J Clin Endocrinol Metab. 2012 Dec; 97(12):E2314-9. PMID: 23087324; PMCID: PMC3513531.
  19. Bastepe M. Relative functions of Gas and its extra-large variant XLas in the endocrine system. Horm Metab Res. 2012 Sep; 44(10):732-40. PMID: 22730013.
    View in: PubMed
  20. Fernández-Rebollo E, Maeda A, Reyes M, Turan S, Fröhlich LF, Plagge A, Kelsey G, Jüppner H, Bastepe M. Loss of XLas (extra-large as) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. Proc Natl Acad Sci U S A. 2012 Apr 24; 109(17):6638-43. PMID: 22496590; PMCID: PMC3340037.
  21. Puzhko S, Goodyer CG, Kerachian MA, Canaff L, Misra M, Jüppner H, Bastepe M, Hendy GN. Parathyroid hormone signaling via Gas is selectively inhibited by an NH(2)-terminally truncated Gas: implications for pseudohypoparathyroidism. J Bone Miner Res. 2011 Oct; 26(10):2473-85. PMID: 21713996; PMCID: PMC3916968.
  22. Liu Z, Turan S, Wehbi VL, Vilardaga JP, Bastepe M. Extra-long Gas variant XLas protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling. J Biol Chem. 2011 Nov 04; 286(44):38558-69. PMID: 21890629; PMCID: PMC3207409.
  23. 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. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? J Bone Miner Res. 2011 Aug; 26(8):1854-63. PMID: 21523828; PMCID: PMC3814169.
  24. Wu JY, Aarnisalo P, Bastepe M, Sinha P, Fulzele K, Selig MK, Chen M, Poulton IJ, Purton LE, Sims NA, Weinstein LS, Kronenberg HM. Gsa enhances commitment of mesenchymal progenitors to the osteoblast lineage but restrains osteoblast differentiation in mice. J Clin Invest. 2011 Sep; 121(9):3492-504. PMID: 21804192; PMCID: PMC3163961.
  25. Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Jüppner H, Bastepe M, Hiort O. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsa-receptor interaction. Hum Mutat. 2011 Jun; 32(6):653-60. PMID: 21488135; PMCID: PMC3103608.
  26. Liu Z, Segawa H, Aydin C, Reyes M, Erben RG, Weinstein LS, Chen M, Marshansky V, Fröhlich LF, Bastepe M. Transgenic overexpression of the extra-large Gsa variant XLas enhances Gsa-mediated responses in the mouse renal proximal tubule in vivo. Endocrinology. 2011 Apr; 152(4):1222-33. PMID: 21303955; PMCID: PMC3060637.
  27. Sbrocchi AM, Rauch F, Lawson ML, Hadjiyannakis S, Lawrence S, Bastepe M, Jüppner H, Ward LM. Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. Eur J Endocrinol. 2011 Feb; 164(2):295-301. PMID: 21062889; PMCID: PMC3810006.
  28. Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Jüppner H. Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone. 2011 Mar 01; 48(3):659-62. PMID: 20965295; PMCID: PMC3039090.
  29. Mäkitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kröger H, Cole WG, Jüppner H. Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. J Bone Miner Res. 2010 Oct; 25(10):2165-74. PMID: 20499351; PMCID: PMC3153319.
  30. Mariot V, Wu JY, Aydin C, Mantovani G, Mahon MJ, Linglart A, Bastepe M. Potent constitutive cyclic AMP-generating activity of XLas implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone. Bone. 2011 Feb; 48(2):312-20. PMID: 20887824; PMCID: PMC3021591.
  31. Turan S, Akin L, Akcay T, Adal E, Sarikaya S, Bastepe M, Jüppner H. Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. Eur J Endocrinol. 2010 Sep; 163(3):489-93. PMID: 20538864; PMCID: PMC2990771.
  32. Chillambhi S, Turan S, Hwang DY, Chen HC, Jüppner H, Bastepe M. Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab. 2010 Aug; 95(8):3993-4002. PMID: 20444925; PMCID: PMC2913043.
  33. Fröhlich LF, Mrakovcic M, Steinborn R, Chung UI, Bastepe M, Jüppner H. Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proc Natl Acad Sci U S A. 2010 May 18; 107(20):9275-80. PMID: 20427744; PMCID: PMC2889123.
  34. Fernandez-Rebollo E, García-Cuartero B, Garin I, Largo C, Martínez F, Garcia-Lacalle C, Castaño L, Bastepe M, Pérez de Nanclares G. 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. J Clin Endocrinol Metab. 2010 Feb; 95(2):765-71. PMID: 20008020; PMCID: PMC2840867.
  35. 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. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. J Med Genet. 2010 Apr; 47(4):276-80. PMID: 19858129; PMCID: PMC3030964.
  36. Turan S, Aydin C, Bereket A, Akcay T, Güran T, Yaralioglu BA, Bastepe M, Jüppner H. Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. Bone. 2010 Feb; 46(2):402-9. PMID: 19796717; PMCID: PMC2818230.
  37. Aydin C, Aytan N, Mahon MJ, Tawfeek HA, Kowall NW, Dedeoglu A, Bastepe M. 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). Endocrinology. 2009 Aug; 150(8):3567-75. PMID: 19423757; PMCID: PMC2717877.
  38. Kaya AI, Ugur O, Oner SS, Bastepe M, Onaran HO. Coupling of beta2-adrenoceptors to XLalphas and Galphas: a new insight into ligand-induced G protein activation. J Pharmacol Exp Ther. 2009 Apr; 329(1):350-9. PMID: 19144685; PMCID: PMC2670595.
  39. Bergwitz C, Bastepe M. NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med. 2008 Dec 11; 359(24):2615-6; author reply 2616-7. PMID: 19073985.
    View in: PubMed
  40. Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, Bayraktar M. 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. Am J Med Sci. 2008 Jul; 336(1):84-90. PMID: 18626245.
    View in: PubMed
  41. Bastepe M, Jüppner H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metab Disord. 2008 Jun; 9(2):171-80. PMID: 18365315.
    View in: PubMed
  42. Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol. 2008; 626:27-40. PMID: 18372789.
    View in: PubMed
  43. Bastepe M. The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts. Curr Genomics. 2007 Sep; 8(6):398-414. PMID: 19412439.
    View in: PubMed
  44. Linglart A, Bastepe M, Jüppner H. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. Clin Endocrinol (Oxf). 2007 Dec; 67(6):822-31. PMID: 17651445.
    View in: PubMed
  45. 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. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab. 2007 Jun; 92(6):2370-3. PMID: 17405843.
    View in: PubMed
  46. Fröhlich LF, Bastepe M, Ozturk D, Abu-Zahra H, Jüppner H. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. Endocrinology. 2007 Jun; 148(6):2925-35. PMID: 17317779.
    View in: PubMed
  47. Sun Y, Huang J, Xiang Y, Bastepe M, Jüppner H, Kobilka BK, Zhang JJ, Huang XY. Dosage-dependent switch from G protein-coupled to G protein-independent signaling by a GPCR. EMBO J. 2007 Jan 10; 26(1):53-64. PMID: 17170700; PMCID: PMC1782364.
  48. Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet. 2006 Nov; 38(11):1248-50. PMID: 17033625.
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  49. Zhang L, Bastepe M, Jüppner H, Ruan KH. Characterization of the molecular mechanisms of the coupling between intracellular loops of prostacyclin receptor with the C-terminal domain of the Galphas protein in human coronary artery smooth muscle cells. Arch Biochem Biophys. 2006 Oct 01; 454(1):80-8. PMID: 16942748.
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  50. Jüppner H, Bastepe M. Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism. J Pediatr Endocrinol Metab. 2006 May; 19 Suppl 2:641-6. PMID: 16789629.
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  51. Jüppner H, Linglart A, Fröhlich LF, Bastepe M. Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. Ann N Y Acad Sci. 2006 Apr; 1068:250-5. PMID: 16831926.
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  52. Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Jüppner H, Bastepe M. Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas. Endocrinology. 2006 May; 147(5):2253-62. PMID: 16484323.
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  53. Vortherms TA, Nguyen CH, Bastepe M, Jüppner H, Watts VJ. D2 dopamine receptor-induced sensitization of adenylyl cyclase type 1 is G alpha(s) independent. Neuropharmacology. 2006 Apr; 50(5):576-84. PMID: 16376953.
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  54. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet. 2006 Feb; 78(2):179-92. PMID: 16358214; PMCID: PMC1380228.
  55. Dean T, Linglart A, Mahon MJ, Bastepe M, Jüppner H, Potts JT, Gardella TJ. Mechanisms of ligand binding to the parathyroid hormone (PTH)/PTH-related protein receptor: selectivity of a modified PTH(1-15) radioligand for GalphaS-coupled receptor conformations. Mol Endocrinol. 2006 Apr; 20(4):931-43. PMID: 16339275; PMCID: PMC3242416.
  56. Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O. A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat. 2005 Aug; 26(2):153-9. PMID: 15968682.
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  57. Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005 May; 115(5):1250-7. PMID: 15864348; PMCID: PMC1087158.
  58. Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet. 2005 May; 76(5):804-14. PMID: 15800843; PMCID: PMC1199370.
  59. Bastepe M, Jüppner H. GNAS locus and pseudohypoparathyroidism. Horm Res. 2005; 63(2):65-74. PMID: 15711092.
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  60. Mahmud FH, Linglart A, Bastepe M, Jüppner H, Lteif AN. Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics. 2005 Feb; 115(2):e242-4. PMID: 15629959.
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  61. Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet. 2005 Jan; 37(1):25-7. PMID: 15592469.
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  62. Laspa E, Bastepe M, Jüppner H, Tsatsoulis A. Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. J Clin Endocrinol Metab. 2004 Dec; 89(12):5942-7. PMID: 15579741.
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  63. Fröhlich LF, Gensure RC, Schipani E, Jüppner H, Bastepe M. Haplotype frequencies and linkage disequilibrium analysis of four frequent polymorphisms at the PTH/PTH-related peptide receptor gene locus. Mol Cell Probes. 2004 Oct; 18(5):353-7. PMID: 15294324.
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  64. Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, Kronenberg HM, Chung UI. Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A. 2004 Oct 12; 101(41):14794-9. PMID: 15459318; PMCID: PMC522030.
  65. Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, Gillis D. A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab. 2004 Jul; 89(7):3595-600. PMID: 15240651.
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  66. Gensure RC, Ponugoti B, Gunes Y, Papasani MR, Lanske B, Bastepe M, Rubin DA, Jüppner H. Identification and characterization of two parathyroid hormone-like molecules in zebrafish. Endocrinology. 2004 Apr; 145(4):1634-9. PMID: 14684608.
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  67. Bastepe M, Fröhlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003 Oct; 112(8):1255-63. PMID: 14561710; PMCID: PMC213493.
  68. Bastepe M, Jüppner H. Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation. J Clin Endocrinol Metab. 2003 Sep; 88(9):4055-8. PMID: 12970261.
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  69. Bastepe M, Jüppner H. Endocrine Disorders: Pseudohypoparathyroidism. The NORD Guide to Rare Disorders. 2003; 325-6.
  70. Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H. Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Mol Endocrinol. 2002 Aug; 16(8):1912-9. PMID: 12145344.
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  71. D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2002 Mar; 87(3):1309-18. PMID: 11889203.
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  72. Bastepe M, Jüppner H. GNAS mutations and progressive osseous heteroplasia - Letter to the Editor. N Eng J Med. 2002; 346:1671.
  73. Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. 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. Hum Mol Genet. 2001 Jun 01; 10(12):1231-41. PMID: 11406605.
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  74. Bastepe M, Lane AH, Jüppner H. Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet. 2001 May; 68(5):1283-9. PMID: 11294659; PMCID: PMC1226109.
  75. Bastepe M, Feig D, Jüppner H. GNAS loss-of-methylation defect in a PHP-1b kindred with linkage discordance to the chromosomal region 20q13.3. Am J Hum Genet. 2001; 2600.
  76. Bastepe M, Jüppner H. Pseudohypoparathyroidism. New insights into an old disease. Endocrinol Metab Clin North Am. 2000 Sep; 29(3):569-89. PMID: 11033761.
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  77. Bastepe M, Jüppner H. Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3. Mol Cell Probes. 2000 Aug; 14(4):261-4. PMID: 10970731.
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  78. Xin L, Geller EB, Bastepe M, Raffa RB, Mao GF, Ashby B, Adler MW. Suppression of fever and hyperalgesic responses to the EP3-receptor agonist GR 63799X by EP3-receptor antisense in rats. J Ther Biol. 2000; 25:77-9.
  79. Bastepe M, Pincus JE, Jüppner H. Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13. Mol Cell Probes. 1999 Dec; 13(6):449-51. PMID: 10657150.
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  80. Bastepe M, Shlossberg AH, Murdock H, Jüppner H, Rittmaster RSA. Lebanese family with osteosclerosis and hypophosphatemia. J Bone and Miner Res. 1999; 14:S558.
  81. Bastepe M, Ashby B. Identification of a region of the C-terminal domain involved in short-term desensitization of the prostaglandin EP4 receptor. Br J Pharmacol. 1999 Jan; 126(1):365-71. PMID: 10051157; PMCID: PMC1565795.
  82. Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A. 1998 Sep 29; 95(20):11798-803. PMID: 9751745; PMCID: PMC21720.
  83. Xin L, Geller EB, Bastepe M, Raffa RB, Mao GF, Ashby B, Adler MW. EP3-receptor antisense attenuates fever induced by centrally administered interleukin 1B (IL-1). Abstr Soc Neurosci. 1998; 24:2077.
  84. Bastepe M. Structure-activity relationship studies with the cloned human prostaglandin EP4 receptor with respect to agonist-induced short-term desensitization. 1998.
  85. Sheth SB, Chaganti K, Bastepe M, Ajuria J, Brennan K, Biradavolu R, Colman RW. Cyclic AMP phosphodiesterases in human lymphocytes. Br J Haematol. 1997 Dec; 99(4):784-9. PMID: 9432022.
    View in: PubMed
  86. Bastepe M, Ashby B. The long cytoplasmic carboxyl terminus of the prostaglandin E2 receptor EP4 subtype is essential for agonist-induced desensitization. Mol Pharmacol. 1997 Feb; 51(2):343-9. PMID: 9203641.
    View in: PubMed
  87. Mao GF, Jin JG, Bastepe M, Ortiz-Vega S, Ashby B. Prostaglandin E2 both stimulates and inhibits adenyl cyclase on platelets: comparison of effects on cloned EP4 and EP3 prostaglandin receptor subtypes. Prostaglandins. 1996 Sep; 52(3):175-85. PMID: 8908618.
    View in: PubMed
  88. Kunapuli SP, Fen Mao G, Bastepe M, Liu-Chen LY, Li S, Cheung PP, DeRiel JK, Ashby B. Cloning and expression of a prostaglandin E receptor EP3 subtype from human erythroleukaemia cells. Biochem J. 1994 Mar 01; 298 ( Pt 2):263-7. PMID: 8135729; PMCID: PMC1137934.
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.