Uitto J - Search Results

1

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: uitto j. Matrix Biol. 2021 May;99:43-57. doi: 10.1016/j.matbio.2021.05.002. Epub 2021 May 15. Matrix Biol. 2021. PMID: 34004352

2

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.

Uitto J, Christiano AM. Uitto J, et al. J Clin Invest. 1992 Sep;90(3):687-92. doi: 10.1172/JCI115938. J Clin Invest. 1992. PMID: 1381721 Free PMC article. Review. No abstract available.

3

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

Ryynänen M, Knowlton RG, Parente MG, Chung LC, Chu ML, Uitto J. Ryynänen M, et al. Among authors: uitto j. Am J Hum Genet. 1991 Oct;49(4):797-803. Am J Hum Genet. 1991. PMID: 1680286 Free PMC article.

4

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

Ryynänen M, Knowlton RG, Uitto J. Ryynänen M, et al. Among authors: uitto j. Am J Hum Genet. 1991 Nov;49(5):978-84. Am J Hum Genet. 1991. PMID: 1718160 Free PMC article.

5

Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).

Pulkkinen L, McGrath JA, Christiano AM, Uitto J. Pulkkinen L, et al. Among authors: uitto j. Hum Mutat. 1995;6(1):77-84. doi: 10.1002/humu.1380060115. Hum Mutat. 1995. PMID: 7550237

6

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.

McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J. McGrath JA, et al. Among authors: uitto j. Nat Genet. 1995 Sep;11(1):83-6. doi: 10.1038/ng0995-83. Nat Genet. 1995. PMID: 7550320

7

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.

Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J. Pulkkinen L, et al. Among authors: uitto j. Genomics. 1994 Nov 15;24(2):357-60. doi: 10.1006/geno.1994.1627. Genomics. 1994. PMID: 7698759

8

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.

McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J. McGrath JA, et al. Among authors: uitto j. J Invest Dermatol. 1995 Apr;104(4):467-74. doi: 10.1111/1523-1747.ep12605904. J Invest Dermatol. 1995. PMID: 7706760 Free article.

9

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.

Uitto J, Christiano AM. Uitto J, et al. Arch Dermatol Res. 1994;287(1):16-22. doi: 10.1007/BF00370713. Arch Dermatol Res. 1994. PMID: 7726631 Review.

10

Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.

Uitto J, Pulkkinen L, Christiano AM. Uitto J, et al. J Invest Dermatol. 1994 Nov;103(5 Suppl):39S-46S. doi: 10.1111/1523-1747.ep12398967. J Invest Dermatol. 1994. PMID: 7963683 Free article. Review.

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