| Year |
Citation |
Score |
| 2024 |
Fujii Y, Okabe I, Hatori A, Sah SK, Kanaujiya J, Fisher M, Norris R, Terasaki M, Reichenberger EJ, Chen IP. Skeletal abnormalities caused by a Connexin43 mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia. Research Square. PMID 38405920 DOI: 10.21203/rs.3.rs-3906170/v1 |
0.501 |
|
| 2023 |
Iwata E, Sah SK, Chen IP, Reichenberger E. Dental abnormalities in rare genetic bone diseases: Literature review. Clinical Anatomy (New York, N.Y.). PMID 37737444 DOI: 10.1002/ca.24117 |
0.677 |
|
| 2021 |
Fujii Y, Monteiro N, Sah SK, Javaheri H, Ueki Y, Fan Z, Reichenberger EJ, Chen IP. Tlr2/4-Mediated Hyperinflammation Promotes Cherubism-Like Jawbone Expansion in Sh3bp2 (P416R) Knockin Mice. Jbmr Plus. 6: e10562. PMID 35079675 DOI: 10.1002/jbm4.10562 |
0.701 |
|
| 2020 |
Fujii Y, Kozak E, Dutra E, Varadi A, Reichenberger EJ, Chen IP. Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 35: 2070-2081. PMID 33463757 DOI: 10.1002/Jbmr.4110 |
0.731 |
|
| 2020 |
Sah SK, Kanaujiya JK, Chen IP, Reichenberger EJ. Generation of Keratinocytes from Human Induced Pluripotent Stem Cells Under Defined Culture Conditions. Cellular Reprogramming. PMID 33373529 DOI: 10.1089/cell.2020.0046 |
0.655 |
|
| 2020 |
Kittaka M, Yoshimoto T, Schlosser C, Kajiya M, Kurihara H, Reichenberger EJ, Ueki Y. Microbe-Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice. Jbmr Plus. 4: e10352. PMID 32537546 DOI: 10.1002/jbm4.10352 |
0.45 |
|
| 2020 |
Sharma T, Cotney J, Singh V, Sanjay A, Reichenberger EJ, Ueki Y, Maye P. Investigating global gene expression changes in a murine model of cherubism. Bone. 115315. PMID 32165349 DOI: 10.1016/J.Bone.2020.115315 |
0.352 |
|
| 2019 |
Kittaka M, Yoshimoto T, Schlosser C, Rottapel R, Kajiya M, Kurihara H, Reichenberger EJ, Ueki Y. Alveolar Bone Protection by Targeting the SH3BP2-SYK Axis in Osteoclasts. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 31613396 DOI: 10.1002/Jbmr.3882 |
0.403 |
|
| 2019 |
Gupta S, Singh K, Garg A, Bhandari PS, Sah SK, Reichenberger E, Kapoor S, Jain S, Trehanpati N. Clinicoradiologic follow up of cherubism with aggressive characteristics: a series of 3 cases. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. PMID 30904497 DOI: 10.1016/J.Oooo.2019.01.082 |
0.321 |
|
| 2019 |
Wang X, Liu X, Dong R, Liang C, Reichenberger EJ, Hu Y. Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD). Calcified Tissue International. PMID 30712070 DOI: 10.1007/s00223-019-00528-x |
0.507 |
|
| 2018 |
Kanaujiya J, Bastow E, Luxmi R, Hao Z, Zattas D, Hochstrasser M, Reichenberger EJ, Chen IP. Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. Scientific Reports. 8: 15710. PMID 30356088 DOI: 10.1038/S41598-018-34157-5 |
0.726 |
|
| 2018 |
Yoshimoto T, Hayashi T, Kondo T, Kittaka M, Reichenberger EJ, Ueki Y. Second-generation SYK inhibitor entospletinib ameliorates fully established inflammation and bone destruction in the cherubism mouse model. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 29669173 DOI: 10.1002/jbmr.3449 |
0.417 |
|
| 2018 |
Liu Y, Sharma T, Chen IP, Reichenberger E, Ueki Y, Arif Y, Parisi D, Maye P. Rescue of a cherubism bone marrow stromal culture phenotype by reducing TGFβ signaling. Bone. PMID 29530719 DOI: 10.1016/J.Bone.2018.03.009 |
0.729 |
|
| 2017 |
Chen IP, Luxmi R, Kanaujiya J, Hao Z, Reichenberger EJ. Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. Stem Cell Reports. PMID 29056330 DOI: 10.1016/J.Stemcr.2017.09.016 |
0.753 |
|
| 2017 |
Jin L, Liu Y, Sun F, Collins MT, Blackwell K, Woo AS, Reichenberger EJ, Hu Y. Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Scientific Reports. 7: 40935. PMID 28176803 DOI: 10.1038/srep40935 |
0.386 |
|
| 2016 |
Liu Y, Dutra EH, Reichenberger EJ, Chen IP. Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. Journal of Negative Results in Biomedicine. 15: 18. PMID 27784318 DOI: 10.1186/S12952-016-0061-0 |
0.739 |
|
| 2014 |
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 Translational Medicine. 3: 1125-37. PMID 25122686 DOI: 10.5966/Sctm.2013-0128 |
0.306 |
|
| 2014 |
Yoshitaka T, Ishida S, Mukai T, Kittaka M, Reichenberger EJ, Ueki Y. Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-α-induced inflammation and bone loss. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 29: 1170-82. PMID 24978678 DOI: 10.1002/jbmr.2125 |
0.375 |
|
| 2014 |
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-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 29: 2618-35. PMID 24916406 DOI: 10.1002/Jbmr.2295 |
0.379 |
|
| 2014 |
Chen IP, Tadinada A, Dutra EH, Utreja A, Uribe F, Reichenberger EJ. Dental Anomalies Associated with Craniometaphyseal Dysplasia. Journal of Dental Research. 93: 553-8. PMID 24663682 DOI: 10.1177/0022034514529304 |
0.742 |
|
| 2014 |
Singh A, Singh K, Goel R, Hu Y, Reichenberger E, Kapoor S. Genetic study of an Indian family with cherubism. Indian Journal of Pediatrics. 81: 299-301. PMID 24005878 DOI: 10.1007/S12098-013-1195-4 |
0.357 |
|
| 2013 |
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. Cellular Reprogramming. 15: 503-13. PMID 24219578 DOI: 10.1089/Cell.2013.0037 |
0.728 |
|
| 2013 |
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. 8: e73576. PMID 23951358 DOI: 10.1371/Journal.Pone.0073576 |
0.725 |
|
| 2013 |
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, et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. American Journal of Human Genetics. 92: 621-6. PMID 23541344 DOI: 10.1016/J.Ajhg.2013.03.002 |
0.371 |
|
| 2013 |
Dutra EH, Chen IP, Reichenberger EJ. Dental abnormalities in a mouse model for craniometaphyseal dysplasia. Journal of Dental Research. 92: 173-9. PMID 23160629 DOI: 10.1177/0022034512468157 |
0.709 |
|
| 2012 |
Reichenberger EJ, Levine MA, Olsen BR, Papadaki ME, Lietman SA. The role of SH3BP2 in the pathophysiology of cherubism. Orphanet Journal of Rare Diseases. 7: S5. PMID 22640988 DOI: 10.1186/1750-1172-7-S1-S5 |
0.436 |
|
| 2012 |
Dutra EH, Chen IP, McGregor TL, Ranells JD, Reichenberger EJ. Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. Clinical Genetics. 81: 93-5. PMID 22150416 DOI: 10.1111/j.1399-0004.2011.01700.x |
0.671 |
|
| 2012 |
Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ. Oculofaciocardiodental syndrome: a rare case and review of the literature. The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association. 49: e55-60. PMID 21740180 DOI: 10.1597/10-256 |
0.646 |
|
| 2011 |
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 : a Compendium of Clinical Research and Practice. 23: 97-106. PMID 24489452 |
0.613 |
|
| 2011 |
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. The Journal of Clinical Investigation. 121: 3244-57. PMID 21765218 DOI: 10.1016/J.Bone.2011.03.080 |
0.528 |
|
| 2011 |
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). Human Molecular Genetics. 20: 948-61. PMID 21149338 DOI: 10.1093/Hmg/Ddq541 |
0.754 |
|
| 2010 |
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. American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics. 138: 140.e1-140.e11; disc. PMID 20691350 DOI: 10.1016/J.Ajodo.2009.05.021 |
0.758 |
|
| 2010 |
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. 46: 1306-15. PMID 20117257 DOI: 10.1016/J.Bone.2010.01.380 |
0.769 |
|
| 2009 |
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. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 24: 1206-15. PMID 19257826 DOI: 10.1359/Jbmr.090218 |
0.774 |
|
| 2007 |
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. 128: 71-83. PMID 17218256 DOI: 10.1016/J.Cell.2006.10.047 |
0.779 |
|
| 2005 |
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 Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 100: 736-42. PMID 16301156 DOI: 10.1016/J.Tripleo.2005.04.017 |
0.381 |
|
| 2001 |
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 Cytogenetics and Cell Genetics. 92: 213-216. PMID 11435690 DOI: 10.1159/000056905 |
0.366 |
|
| 2001 |
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 Nature Genetics. 28: 125-126. PMID 11381256 DOI: 10.1038/88832 |
0.44 |
|
| 2001 |
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, et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. American Journal of Human Genetics. 68: 1321-6. PMID 11326338 DOI: 10.1086/320612 |
0.518 |
|
| 2001 |
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. 72: 61-72. PMID 11247667 DOI: 10.1006/Geno.2000.6464 |
0.424 |
|
| 2000 |
Reichenberger E, Baur S, Sukotjo C, Olsen BR, Karimbux NY, Nishimura I. Collagen XII mutation disrupts matrix structure of periodontal ligament and skin. Journal of Dental Research. 79: 1962-8. PMID 11201046 DOI: 10.1177/00220345000790120701 |
0.366 |
|
| 2000 |
Stiller M, Urban M, Golder W, Tiziani V, Reichenberger E, Frege J, Opitz C, Peters H. Craniosynostosis in cherubism American Journal of Medical Genetics. 95: 325-331. DOI: 10.1002/1096-8628(20001211)95:4<325::Aid-Ajmg6>3.0.Co;2-R |
0.334 |
|
| 1997 |
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 Biology : Journal of the International Society For Matrix Biology. 15: 415-22. PMID 9049979 DOI: 10.1016/S0945-053X(96)90160-2 |
0.309 |
|
| 1993 |
Aigner T, Reichenberger E, Bertling W, Kirsch T, Stöss H, Mark KVD. Type X collagen expression in osteoarthritic and rheumatoid articular cartilage. Virchows Archiv B Cell Pathology Including Molecular Pathology. 63: 205-211. PMID 8099458 DOI: 10.1007/Bf02899263 |
0.303 |
|
| 1991 |
Reichenberger E, Aigner T, Mark Kvd, Stöß H, Bertling W. In situ hybridization studies on the expression of type X collagen in fetal human cartilage. Developmental Biology. 148: 562-572. PMID 1743401 DOI: 10.1016/0012-1606(91)90274-7 |
0.343 |
|
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