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AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Grün R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U. Terhal P, et al. Among authors: von kroge s. Am J Hum Genet. 2023 Sep 7;110(9):1470-1481. doi: 10.1016/j.ajhg.2023.07.011. Epub 2023 Aug 14. Am J Hum Genet. 2023. PMID: 37582359 Free PMC article.
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT. Oheim R, et al. Among authors: von kroge s. J Bone Miner Res. 2020 Mar;35(3):528-539. doi: 10.1002/jbmr.3911. Epub 2019 Dec 5. J Bone Miner Res. 2020. PMID: 31805212 Free PMC article.
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Rettig RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommasini SM, von Kroge S, Fiedler IA, Lester ER, Moeckel GW, Busse B, Schinke T, Carpenter TO, Levine MA, Horowitz MC, Braddock DT. Ferreira CR, et al. Among authors: von kroge s. J Bone Miner Res. 2021 May;36(5):942-955. doi: 10.1002/jbmr.4254. Epub 2021 Feb 18. J Bone Miner Res. 2021. PMID: 33465815 Free PMC article.
The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV.
Vollersen N, Zhao W, Rolvien T, Lange F, Schmidt FN, Sonntag S, Shmerling D, von Kroge S, Stockhausen KE, Sharaf A, Schweizer M, Karsak M, Busse B, Bockamp E, Semler O, Amling M, Oheim R, Schinke T, Yorgan TA. Vollersen N, et al. Among authors: von kroge s. Bone Res. 2021 Nov 10;9(1):48. doi: 10.1038/s41413-021-00170-0. Bone Res. 2021. PMID: 34759273 Free PMC article.
Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.
Zimmerman K, Liu X, von Kroge S, Stabach P, Lester ER, Chu EY, Srivastava S, Somerman MJ, Tommasini SM, Busse B, Schinke T, Carpenter TO, Oheim R, Braddock DT. Zimmerman K, et al. Among authors: von kroge s. J Bone Miner Res. 2022 Sep;37(9):1733-1749. doi: 10.1002/jbmr.4640. Epub 2022 Jul 29. J Bone Miner Res. 2022. PMID: 35773783 Free PMC article.
Piezo1 Inactivation in Chondrocytes Impairs Trabecular Bone Formation.
Hendrickx G, Fischer V, Liedert A, von Kroge S, Haffner-Luntzer M, Brylka L, Pawlus E, Schweizer M, Yorgan T, Baranowsky A, Rolvien T, Neven M, Schumacher U, Beech DJ, Amling M, Ignatius A, Schinke T. Hendrickx G, et al. Among authors: von kroge s. J Bone Miner Res. 2021 Feb;36(2):369-384. doi: 10.1002/jbmr.4198. Epub 2020 Nov 12. J Bone Miner Res. 2021. PMID: 33180356 Free article.
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