Clinical trial NCT01630460 - References

Craniometaphyseal Dysplasia — Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

Citation(s)

•   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. 2017 Nov 14;9(5):1369-1376. doi: 10.1016/j.ste
•   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. doi: 10.1177/0022034514529304. Epub 2014 Mar 24.
•   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. doi: 10.1359/jbmr.090218.
•   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. doi: 10.1093/hmg
•   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. doi: 10.1111/j.1399-0004.2011.01700.x. No abstract available.
•   Dutra EH, Chen IP, Reichenberger EJ
  Dental abnormalities in a mouse model for craniometaphyseal dysplasia. J Dent Res. 2013 Feb;92(2):173-9. doi: 10.1177/0022034512468157. Epub 2012 Nov 15.
•   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. J Bone Miner Res. 2020 Oct;35(10):2070-2081. doi: 10.1002/jbmr.4110. Epub
•   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 Aug 12;8(8):e73576. doi: 10.1371/journal.pone
•   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. Sci Rep. 2018 Oct 24;8(1):15710. doi: 10.1038/s41598-018-34157-5.
•   Reichenberger E, Chen IP
  Craniometaphyseal Dysplasia, Autosomal Dominant. 2007 Aug 27 [updated 2020 Jun 11]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Wash
•   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 crani

Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

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