Výsledky vyhledávání - "B. S. Andresen"

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients]

Autor: C B, Sørensen, A S, Ladekjaer-Mikkelsen, B S, Andresen, F, Brandrup, N K, Veien, S K, Buus, I, Anton-Lamprecht, T, Kruse, P K, Jensen, H, Eiberg, L, Bolund, N, Gregersen

Publikováno v: Ugeskrift for laeger. 162(13)

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin disorders caused by mutations in the keratin genes K5 or K14. We examined five Danish families with EBS-Weber-Cockayne (WC) or EBS-Koebner (K) and two sporadic cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3ede3277ed985cfe0af815377b670952
https://pubmed.ncbi.nlm.nih.gov/10765693

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[Keratin diseases]

Autor: P K, Jensen, C B, Sørensen, B S, Andresen, F, Brandrup, N K, Veien, S K, Buus, N, Gregersen, L, Bolund

Publikováno v: Ugeskrift for laeger. 162(13)

The rapid development in human genome research has resulted in a tremendous increase in our understanding of the molecular basis of many genetic skin diseases. One outstanding example of this is diseases caused by mutations in keratin genes, which co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae79e340d021a37d29d1c39d7951c07e
https://pubmed.ncbi.nlm.nih.gov/10765692

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Protein misfolding and degradation in genetic diseases

Autor: P, Bross, T J, Corydon, B S, Andresen, M M, Jørgensen, L, Bolund, N, Gregersen

Publikováno v: Human mutation. 14(3)

Investigations of genetic diseases such as cystic fibrosis, alpha-1-antitrypsin deficiency, phenylketonuria, mitochondrial acyl-CoA dehydrogenase deficiencies, and many others have shown that enhanced proteolytic degradation of mutant proteins is a c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3d17ef40967b15e16f533a8da4ecf8b2
https://pubmed.ncbi.nlm.nih.gov/10477427

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Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation

Autor: C, Siggaard, S, Rittig, T J, Corydon, P H, Andreasen, T G, Jensen, B S, Andresen, G L, Robertson, N, Gregersen, L, Bolund, E B, Pedersen

Publikováno v: The Journal of clinical endocrinology and metabolism. 84(8)

The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by postnatal onset of polyuria and a deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). Since 1991, ad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0b3056ad338f2d49bbf6898556e40435
https://pubmed.ncbi.nlm.nih.gov/10443701

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Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency

Autor: P, Bross, B S, Andresen, N, Gregersen

Publikováno v: Progress in nucleic acid research and molecular biology. 58

Rapid progress in DNA technology has entailed the possibility of readily detecting mutations in disease genes. In contrast to this, techniques to characterize the effects of mutations are still very time consuming. It has turned out that many of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bcb0196d66cf337b6e424b2d40f1f238
https://pubmed.ncbi.nlm.nih.gov/9308370

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Sequence analysis of the Epstein-Barr virus (EBV) latent membrane protein-1 gene and promoter region: identification of four variants among wild-type EBV isolates

Autor: K, Sandvej, J W, Gratama, M, Munch, X G, Zhou, R L, Bolhuis, B S, Andresen, N, Gregersen, S, Hamilton-Dutoit

Publikováno v: Blood. 90(1)

Sequence variations in the Epstein-Barr virus (EBV) encoded latent membrane protein-1 (LMP-1) gene have been described in a Chinese nasopharyngeal carcinoma-derived isolate (CAO), and in viral isolates from various EBV-associated tumors. It has been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::46ad94da307cf33f9adcbf0974b0d73a
https://pubmed.ncbi.nlm.nih.gov/9207468

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