Schwarze U - Search Results

1

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

Lim JY, Bhatia NS, Vasanwala RF, Chay PL, Lim KBL, Khoo PC, Schwarze U, Jamuar SS. Lim JY, et al. Among authors: schwarze u. Clin Dysmorphol. 2019 Jul;28(3):120-125. doi: 10.1097/MCD.0000000000000279. Clin Dysmorphol. 2019. PMID: 30985308 Review.

2

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.

Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH. Pace JM, et al. Among authors: schwarze u. J Med Genet. 2002 Jan;39(1):23-9. doi: 10.1136/jmg.39.1.23. J Med Genet. 2002. PMID: 11826020 Free PMC article.

3

Gene targeting in stem cells from individuals with osteogenesis imperfecta.

Chamberlain JR, Schwarze U, Wang PR, Hirata RK, Hankenson KD, Pace JM, Underwood RA, Song KM, Sussman M, Byers PH, Russell DW. Chamberlain JR, et al. Among authors: schwarze u. Science. 2004 Feb 20;303(5661):1198-201. doi: 10.1126/science.1088757. Science. 2004. PMID: 14976317

4

Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta.

Chamberlain JR, Deyle DR, Schwarze U, Wang P, Hirata RK, Li Y, Byers PH, Russell DW. Chamberlain JR, et al. Among authors: schwarze u. Mol Ther. 2008 Jan;16(1):187-93. doi: 10.1038/sj.mt.6300339. Epub 2007 Oct 23. Mol Ther. 2008. PMID: 17955022 Free PMC article.

5

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.

Pace JM, Wiese M, Drenguis AS, Kuznetsova N, Leikin S, Schwarze U, Chen D, Mooney SH, Unger S, Byers PH. Pace JM, et al. Among authors: schwarze u. J Biol Chem. 2008 Jun 6;283(23):16061-7. doi: 10.1074/jbc.M801982200. Epub 2008 Mar 27. J Biol Chem. 2008. PMID: 18375391 Free PMC article.

6

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE. Bodian DL, et al. Among authors: schwarze u. Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996919 Free PMC article.

7

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.

Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH. Pyott SM, et al. Among authors: schwarze u. Genet Med. 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6. Genet Med. 2011. PMID: 21239989 Free article.

8

Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs.

Deyle DR, Khan IF, Ren G, Wang PR, Kho J, Schwarze U, Russell DW. Deyle DR, et al. Among authors: schwarze u. Mol Ther. 2012 Jan;20(1):204-13. doi: 10.1038/mt.2011.209. Epub 2011 Oct 25. Mol Ther. 2012. PMID: 22031238 Free PMC article.

9

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH. Schwarze U, et al. Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4. Hum Mol Genet. 2013. PMID: 22949511 Free PMC article.

10

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. Baldridge D, et al. Among authors: schwarze u. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. Hum Mutat. 2008. PMID: 18566967 Free PMC article.

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