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Page 1
PPIB mutations cause severe osteogenesis imperfecta.
van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G. van Dijk FS, et al. Among authors: shaw nj. Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781681 Free PMC article.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium; Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium. Raimondo A, et al. Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11. Hum Mol Genet. 2014. PMID: 25015100 Free PMC article.
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Ali A, et al. Hum Mol Genet. 2007 Feb 1;16(3):265-75. doi: 10.1093/hmg/ddl454. Epub 2007 Jan 8. Hum Mol Genet. 2007. PMID: 17210674
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Pollitt RC, Saraff V, Dalton A, Webb EA, Shaw NJ, Sobey GJ, Mughal MZ, Hobson E, Ali F, Bishop NJ, Arundel P, Högler W, Balasubramanian M. Pollitt RC, et al. Among authors: shaw nj. Am J Med Genet A. 2016 Dec;170(12):3150-3156. doi: 10.1002/ajmg.a.37958. Epub 2016 Aug 30. Am J Med Genet A. 2016. PMID: 27576954 Free article.
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276
GATA3 haplo-insufficiency causes human HDR syndrome.
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. Van Esch H, et al. Among authors: shaw nj. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. Nature. 2000. PMID: 10935639
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. Reilly ML, et al. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. Epub 2022 Jul 19. J Bone Miner Res. 2022. PMID: 35748595 Free PMC article.
288 results