Hovnanian A - Search Results

1

A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line.

Mecklenbeck S, Compton SH, Mejía JE, Cervini R, Hovnanian A, Bruckner-Tuderman L, Barrandon Y. Mecklenbeck S, et al. Among authors: hovnanian a. Hum Gene Ther. 2002 Sep 1;13(13):1655-62. doi: 10.1089/10430340260201743. Hum Gene Ther. 2002. PMID: 12228020

2

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M. Hovnanian A, et al. Nat Genet. 1993 Apr;3(4):327-32. doi: 10.1038/ng0493-327. Nat Genet. 1993. PMID: 7526933

3

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, Dietz HC, Hovnanian A, Uitto J. Christiano AM, et al. Among authors: hovnanian a. Nat Genet. 1993 May;4(1):62-6. doi: 10.1038/ng0593-62. Nat Genet. 1993. PMID: 8513326

4

Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.

Uitto J, Hovnanian A, Christiano AM. Uitto J, et al. Among authors: hovnanian a. Proc Assoc Am Physicians. 1995 Jul;107(2):245-52. Proc Assoc Am Physicians. 1995. PMID: 8624860 Review. No abstract available.

5

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y. Hovnanian A, et al. Am J Hum Genet. 1997 Sep;61(3):599-610. doi: 10.1086/515495. Am J Hum Genet. 1997. PMID: 9326325 Free PMC article.

6

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

Sakuntabhai A, Hammami-Hauasli N, Bodemer C, Rochat A, Prost C, Barrandon Y, de Prost Y, Lathrop M, Wojnarowska F, Bruckner-Tuderman L, Hovnanian A. Sakuntabhai A, et al. Among authors: hovnanian a. Am J Hum Genet. 1998 Sep;63(3):737-48. doi: 10.1086/302029. Am J Hum Genet. 1998. PMID: 9718359 Free PMC article.

7

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.

Rugg EL, Rachet-Préhu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A. Rugg EL, et al. Among authors: hovnanian a. Eur J Hum Genet. 1999 Apr;7(3):293-300. doi: 10.1038/sj.ejhg.5200292. Eur J Hum Genet. 1999. PMID: 10234505

8

Stable integration of large (>100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system.

Compton SH, Mecklenbeck S, Mejía JE, Hart SL, Rice M, Cervini R, Barrandon Y, Larin Z, Levy ER, Bruckner-Tuderman L, Hovnanian A. Compton SH, et al. Among authors: hovnanian a. Gene Ther. 2000 Sep;7(18):1600-5. doi: 10.1038/sj.gt.3301280. Gene Ther. 2000. PMID: 11021599

9

Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.

Titeux M, Mejía JE, Mejlumian L, Bourthoumieu S, Mirval S, Tonasso L, Heller M, Prost-Squarcioni C, Hovnanian A. Titeux M, et al. Among authors: hovnanian a. Hum Mutat. 2006 Mar;27(3):291-2. doi: 10.1002/humu.9406. Hum Mutat. 2006. PMID: 16470588

10

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. Fine JD, et al. Among authors: hovnanian a. J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18. J Am Acad Dermatol. 2008. PMID: 18374450

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