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Insulin-like growth factor binding protein-5 expression by human trabecular meshwork

Autor: M K, Wirtz, H, Xu, K, Rust, J P, Alexander, T S, Acott

Publikováno v: Investigative ophthalmologyvisual science. 39(1)

The authors found transcript expression for insulin-like growth factor binding protein-5 (IGFBP-5) while screening for uniquely expressed trabecular meshwork (TM) mRNAs. Because the insulin-like growth factor (IGF) autocrine-paracrine system may prov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1179407149cc275e18cd8cbaf85ff2f4
https://pubmed.ncbi.nlm.nih.gov/9430544

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Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1

Autor: M K, Wirtz, J R, Samples, P L, Kramer, K, Rust, J, Yount, T S, Acott, R D, Koler, J, Cisler, A, Jahed, R J, Gorlin, M, Godfrey

Publikováno v: American journal of medical genetics. 65(1)

Weill-Marchesani syndrome comprises short stature, brachydactyly, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600). We present two families each with affected individuals in 3 generations d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6b5388a383eeeb9635217725635ac0bf
https://pubmed.ncbi.nlm.nih.gov/8914744

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In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII

Autor: M K, Wirtz, D R, Keene, H, Hori, R W, Glanville, B, Steinmann, V H, Rao, D W, Hollister

Publikováno v: The Journal of biological chemistry. 265(11)

The cause of the Ehlers-Danlos syndrome Type VII (EDS VII) is considered to be defective removal of the amino-terminal propeptide (N-propeptide) of Type I procollagen due to deficiency of procollagen N-proteinase, the enzyme responsible for the norma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::71ac98f74a13ca2d09097215505c3aa1
https://pubmed.ncbi.nlm.nih.gov/2318855

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Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant

Autor: B Steinmann, D Weil, F Ramirez, M K Wirtz, N Combates, D W Hollister, M Bernard

Publikováno v: Journal of Biological Chemistry. 263:8561-8564

Recent biochemical studies have shown that the fibroblasts from a patient with Ehlers-Danlos Syndrome Type VIIB produce nearly equal amounts of normal and shortened pro-alpha 2(I) collagen chains (Wirtz, M.K., Glanville, R. W., Steinmann, B., Rao, V.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::245395e7ceade8fb8c4121d3a812281e
https://doi.org/10.1016/s0021-9258(18)68340-1

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Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain

Autor: M K Wirtz, D W Hollister, Velidi H. Rao, B Steinmann, Robert W. Glanville

Publikováno v: Journal of Biological Chemistry. 262:16376-16385

A patient with Ehlers-Danlos syndrome Type VIIB was found to have an interstitial deletion of 18 amino acids in approximately half of the pro-alpha 2(I) chains of Type I procollagen. Analysis of pepsin-solubilized tissue and fibroblast collagen revea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b0ddaddd1bf1a87257ec597210483da
https://doi.org/10.1016/s0021-9258(18)49266-6

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Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain

Autor: M K, Wirtz, R W, Glanville, B, Steinmann, V H, Rao, D W, Hollister

Publikováno v: The Journal of biological chemistry. 262(34)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::70cb34d9e94bf4edc982b5d97a6d146a
https://pubmed.ncbi.nlm.nih.gov/3680255

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Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII

Autor: D, Weil, M, D'Alessio, F, Ramirez, B, Steinmann, M K, Wirtz, R W, Glanville, D W, Hollister

Publikováno v: The Journal of biological chemistry. 264(28)

In this article we report the characterization of the molecular lesion in a patient with Ehlers-Danlos syndrome Type VII and provide evidence that a de novo substitution of the last nucleotide of exon 6 in one allele of the pro-alpha 2(I) collagen ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e57a3af22ecbb0d9555c284f5dcd9776
https://pubmed.ncbi.nlm.nih.gov/2777808

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Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant

Autor: D, Weil, M, Bernard, N, Combates, M K, Wirtz, D W, Hollister, B, Steinmann, F, Ramirez

Publikováno v: The Journal of biological chemistry. 263(18)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b0eedff75bf242f1ead0fbb57c5fc8bd
https://pubmed.ncbi.nlm.nih.gov/2454224

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