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Ernst J Reichenberger PhD

TitleAssociate Professor
InstitutionUConn Health Center
DepartmentReconstructive Sciences
AddressMC 3705
MC 3705
263 Farmington Avenue
Phone860-679-2062
Fax860-679-2910
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    Collapse Bibliographic 
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    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. Mukai T, Ishida S, Ishikawa R, Yoshitaka T, Kittaka M, Gallant R, Lin YL, Rottapel R, Brotto M, Reichenberger EJ, Ueki Y. SH3BP2 cherubism mutation potentiates TNF-a-induced osteoclastogenesis via NFATc1 and TNF-a-mediated inflammatory bone loss. J Bone Miner Res. 2014 Dec; 29(12):2618-35. PMID: 24916406; PMCID: PMC4262741 [Available on 12/01/15].
    2. Yoshitaka T, Mukai T, Kittaka M, Alford LM, Masrani S, Ishida S, Yamaguchi K, Yamada M, Mizuno N, Olsen BR, Reichenberger EJ, Ueki Y. Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. Cell Rep. 2014 Sep 25; 8(6):1752-66. PMID: 25220465; PMCID: PMC4177302.
    3. Olaitan PB, Odesina V, Ademola S, Fadiora SO, Oluwatosin OM, Reichenberger EJ. Recruitment of Yoruba families from Nigeria for genetic research: experience from a multisite keloid study. BMC Med Ethics. 2014; 15:65. PMID: 25182071; PMCID: PMC4158348.
    4. Xin X, Jiang X, Wang L, Stover ML, Zhan S, Huang J, Goldberg AJ, Liu Y, Kuhn L, Reichenberger EJ, Rowe DW, Lichtler AC. A Site-Specific Integrated Col2.3GFP Reporter Identifies Osteoblasts Within Mineralized Tissue Formed In Vivo by Human Embryonic Stem Cells. Stem Cells Transl Med. 2014 Oct; 3(10):1125-37. PMID: 25122686; PMCID: PMC4181390.
    5. Sekerci AE, Balta B, Dundar M, Hu Y, Reichenberger EJ, Etoz OA, Nazlim S, Bayrakdar IS. A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature. Med Oral Patol Oral Cir Bucal. 2014 Jul; 19(4):e340-4. PMID: 24608212; PMCID: PMC4119308.
    6. Sun F, Reichenberger EJ. Saliva as a source of genomic DNA for genetic studies: review of current methods and applications. Oral Health Dent Manag. 2014 Jun; 13(2):217-22. PMID: 24984625.
      View in: PubMed
    7. Chen IP, Tadinada A, Dutra EH, Utreja A, Uribe F, Reichenberger EJ. Dental Anomalies Associated with Craniometaphyseal Dysplasia. J Dent Res. 2014 Jun; 93(6):553-8. PMID: 24663682.
      View in: PubMed
    8. Yoshitaka T, Ishida S, Mukai T, Kittaka M, Reichenberger EJ, Ueki Y. Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-a-induced inflammation and bone loss. J Bone Miner Res. 2014; 29(5):1170-82. PMID: 24978678; PMCID: PMC4131552.
    9. Chen IP, Fukuda K, Fusaki N, Iida A, Hasegawa M, Lichtler A, Reichenberger EJ. Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia. Cell Reprogram. 2013 Dec; 15(6):503-13. PMID: 24219578; PMCID: PMC3848480.
    10. Singh A, Singh K, Goel R, Hu Y, Reichenberger E, Kapoor S. Genetic study of an Indian family with cherubism. Indian J Pediatr. 2014 Mar; 81(3):299-301. PMID: 24005878.
      View in: PubMed
    11. Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013; 8(8):e73576. PMID: 23951358; PMCID: PMC3741164.
    12. Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 Apr 4; 92(4):621-6. PMID: 23541344; PMCID: PMC3617379.
    13. Dutra EH, Chen IP, Reichenberger EJ. Dental abnormalities in a mouse model for craniometaphyseal dysplasia. J Dent Res. 2013 Feb; 92(2):173-9. PMID: 23160629; PMCID: PMC3545689.
    14. Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Cherubism: best clinical practice. Orphanet J Rare Dis. 2012 May 24; 7 Suppl 1:S6. PMID: 22640403; PMCID: PMC3359956.
    15. Reichenberger EJ, Levine MA, Olsen BR, Papadaki ME, Lietman SA. The role of SH3BP2 in the pathophysiology of cherubism. Orphanet J Rare Dis. 2012 May 24; 7 Suppl 1:S5. PMID: 22640988; PMCID: PMC3359958.
    16. Dutra EH, Chen IP, McGregor TL, Ranells JD, Reichenberger EJ. Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. Clin Genet. 2012 Jan; 81(1):93-5. PMID: 22150416; PMCID: PMC3417334.
    17. Levaot N, Simoncic PD, Dimitriou ID, Scotter A, La Rose J, Ng AH, Willett TL, Wang CJ, Janmohamed S, Grynpas M, Reichenberger E, Rottapel R. 3BP2-deficient mice are osteoporotic with impaired osteoblast and osteoclast functions. J Clin Invest. 2011 Aug; 121(8):3244-57. PMID: 21765218; PMCID: PMC3148735.
    18. Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ. Oculofaciocardiodental syndrome: a rare case and review of the literature. Cleft Palate Craniofac J. 2012 Sep; 49(5):e55-60. PMID: 21740180; PMCID: PMC3354011.
    19. Olaitan PB, Chen IP, Norris JE, Feinn R, Oluwatosin OM, Reichenberger EJ. Inhibitory activities of omega-3 Fatty acids and traditional african remedies on keloid fibroblasts. Wounds. 2011 Apr; 23(4):97-106. PMID: 24489452; PMCID: PMC3905615.
    20. Chen IP, Wang L, Jiang X, Aguila HL, Reichenberger EJ. A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). Hum Mol Genet. 2011 Mar 1; 20(5):948-61. PMID: 21149338; PMCID: PMC3033186.
    21. Mukherjee PM, Wang CJ, Chen IP, Jafarov T, Olsen BR, Ueki Y, Reichenberger EJ. Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function. Am J Orthod Dentofacial Orthop. 2010 Aug; 138(2):140.e1-140.e11; discussion 140-1. PMID: 20691350; PMCID: PMC3268358.
    22. Wang CJ, Chen IP, Koczon-Jaremko B, Boskey AL, Ueki Y, Kuhn L, Reichenberger EJ. Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties. Bone. 2010 May; 46(5):1306-15. PMID: 20117257; PMCID: PMC2854251.
    23. Chen IP, Wang CJ, Strecker S, Koczon-Jaremko B, Boskey A, Reichenberger EJ. Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res. 2009 Jul; 24(7):1206-15. PMID: 19257826; PMCID: PMC2697624.
    24. Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. Cell. 2007 Jan 12; 128(1):71-83. PMID: 17218256.
      View in: PubMed
    25. Turk BE, Lee DH, Yamakoshi Y, Klingenhoff A, Reichenberger E, Wright JT, Simmer JP, Komisarof JA, Cantley LC, Bartlett JD. MMP-20 is predominately a tooth-specific enzyme with a deep catalytic pocket that hydrolyzes type V collagen. Biochemistry. 2006 Mar 28; 45(12):3863-74. PMID: 16548514; PMCID: PMC2536712.
    26. Islam M, Lurie AG, Reichenberger E. Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005 Dec; 100(6):736-42. PMID: 16301156.
      View in: PubMed
    27. Jafarov T, Ferimazova N, Reichenberger E. Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Clin Genet. 2005 Aug; 68(2):190-1. PMID: 15996221.
      View in: PubMed
    28. Messadi DV, Doung HS, Zhang Q, Kelly AP, Tuan TL, Reichenberger E, Le AD. Activation of NFkappaB signal pathways in keloid fibroblasts. Arch Dermatol Res. 2004 Aug; 296(3):125-33. PMID: 15278366.
      View in: PubMed
    29. Marneros AG, Norris JE, Watanabe S, Reichenberger E, Olsen BR. Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11. J Invest Dermatol. 2004 May; 122(5):1126-32. PMID: 15140214.
      View in: PubMed
    30. Marneros AG, Norris JE, Olsen BR, Reichenberger E. Clinical genetics of familial keloids. Arch Dermatol. 2001 Nov; 137(11):1429-34. PMID: 11708945.
      View in: PubMed
    31. Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun; 28(2):125-6. PMID: 11381256.
      View in: PubMed
    32. Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001 Jun; 68(6):1321-6. PMID: 11326338; PMCID: PMC1226118.
    33. Rieger DK, Reichenberger E, McLean W, Sidow A, Olsen BR. A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice. Genomics. 2001 Feb 15; 72(1):61-72. PMID: 11247667.
      View in: PubMed
    34. Marneros AG, Mehenni H, Reichenberger E, Antonarakis SE, Krieg T, Olsen BR. Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome. Cytogenet Cell Genet. 2001; 92(3-4):213-6. PMID: 11435690.
      View in: PubMed
    35. Stiller M, Urban M, Golder W, Tiziani V, Reichenberger E, Frege J, Opitz C, Peters H. Craniosynostosis in cherubism. Am J Med Genet. 2000 Dec 11; 95(4):325-31. PMID: 11186885.
      View in: PubMed
    36. Reichenberger E, Baur S, Sukotjo C, Olsen BR, Karimbux NY, Nishimura I. Collagen XII mutation disrupts matrix structure of periodontal ligament and skin. J Dent Res. 2000 Dec; 79(12):1962-8. PMID: 11201046.
      View in: PubMed
    37. Kania AM, Reichenberger E, Baur ST, Karimbux NY, Taylor RW, Olsen BR, Nishimura I. Structural variation of type XII collagen at its carboxyl-terminal NC1 domain generated by tissue-specific alternative splicing. J Biol Chem. 1999 Jul 30; 274(31):22053-9. PMID: 10419532.
      View in: PubMed
    38. Tiziani V, Reichenberger E, Buzzo CL, Niazi S, Fukai N, Stiller M, Peters H, Salzano FM, Raposo do Amaral CM, Olsen BR. The gene for cherubism maps to chromosome 4p16. Am J Hum Genet. 1999 Jul; 65(1):158-66. PMID: 10364528; PMCID: PMC1378086.
    39. Beier F, Eerola I, Vuorio E, Luvalle P, Reichenberger E, Bertling W, von der Mark K, Lammi MJ. Variability in the upstream promoter and intron sequences of the human, mouse and chick type X collagen genes. Matrix Biol. 1996 Dec; 15(6):415-22. PMID: 9049979.
      View in: PubMed
    40. Bertling WM, Beier F, Reichenberger E. Determination of 5' ends of specific mRNAs by DNA ligase-dependent amplification. PCR Methods Appl. 1993 Oct; 3(2):95-9. PMID: 8268792.
      View in: PubMed
    41. Reichenberger E, Beier F, LuValle P, Olsen BR, von der Mark K, Bertling WM. Genomic organization and full-length cDNA sequence of human collagen X. FEBS Lett. 1992 Oct 26; 311(3):305-10. PMID: 1397333.
      View in: PubMed
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