Lee BH - Search Results

1

Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.

Machol K, Polak U, Weisz-Hubshman M, Song IW, Chen S, Jiang MM, Chen-Evenson Y, Weis MAE, Keene DR, Eyre DR, Lee BH. Machol K, et al. Among authors: lee bh. Hum Mol Genet. 2022 Apr 22;31(8):1325-1335. doi: 10.1093/hmg/ddab323. Hum Mol Genet. 2022. PMID: 34740257 Free PMC article.

2

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

Lee B, D'Alessio M, Vissing H, Ramirez F, Steinmann B, Superti-Furga A. Lee B, et al. Am J Hum Genet. 1991 Mar;48(3):511-7. Am J Hum Genet. 1991. PMID: 1998337 Free PMC article.

3

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. Zhou G, et al. Hum Mol Genet. 1999 Nov;8(12):2311-6. doi: 10.1093/hmg/8.12.2311. Hum Mol Genet. 1999. PMID: 10545612

4

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. Campeau PM, et al. Among authors: lee bh. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265014 Free PMC article.

5

miRNA-34c regulates Notch signaling during bone development.

Bae Y, Yang T, Zeng HC, Campeau PM, Chen Y, Bertin T, Dawson BC, Munivez E, Tao J, Lee BH. Bae Y, et al. Among authors: lee bh. Hum Mol Genet. 2012 Jul 1;21(13):2991-3000. doi: 10.1093/hmg/dds129. Epub 2012 Apr 12. Hum Mol Genet. 2012. PMID: 22498974 Free PMC article.

6

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Campeau PM, et al. Among authors: lee bh. Hum Mol Genet. 2012 Nov 15;21(22):4904-9. doi: 10.1093/hmg/dds326. Epub 2012 Aug 8. Hum Mol Genet. 2012. PMID: 22875837 Free PMC article.

7

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH. Campeau PM, et al. Among authors: lee bh. Am J Hum Genet. 2013 May 2;92(5):781-91. doi: 10.1016/j.ajhg.2013.03.020. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623387 Free PMC article.

8

Notch signaling in skeletal stem cells.

Chen S, Lee BH, Bae Y. Chen S, et al. Among authors: lee bh. Calcif Tissue Int. 2014 Jan;94(1):68-77. doi: 10.1007/s00223-013-9773-z. Epub 2013 Aug 22. Calcif Tissue Int. 2014. PMID: 23963632 Free PMC article. Review.

9

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.

Joeng KS, Lee YC, Jiang MM, Bertin TK, Chen Y, Abraham AM, Ding H, Bi X, Ambrose CG, Lee BH. Joeng KS, et al. Among authors: lee bh, lee yc. Hum Mol Genet. 2014 Aug 1;23(15):4035-42. doi: 10.1093/hmg/ddu117. Epub 2014 Mar 14. Hum Mol Genet. 2014. PMID: 24634143 Free PMC article.

10

Notch activation as a driver of osteogenic sarcoma.

Tao J, Jiang MM, Jiang L, Salvo JS, Zeng HC, Dawson B, Bertin TK, Rao PH, Chen R, Donehower LA, Gannon F, Lee BH. Tao J, et al. Among authors: lee bh. Cancer Cell. 2014 Sep 8;26(3):390-401. doi: 10.1016/j.ccr.2014.07.023. Cancer Cell. 2014. PMID: 25203324 Free PMC article.

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