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Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study

Autor: H T Orr, D Schald, K Wagner, T R Perry, M R Knowles, W J Warwick, L M Silverman, R Farber, G L Chong, W E Highsmith

Publikováno v: Clinical Chemistry. 36:1741-1746

The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dd1ffc718695c87ea568a3ac4b650ffb
https://doi.org/10.1093/clinchem/36.10.1741

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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

Autor: I A, Klement, P J, Skinner, M D, Kaytor, H, Yi, S M, Hersch, H B, Clark, H Y, Zoghbi, H T, Orr

Publikováno v: Cell. 95(1)

Transgenic mice carrying the spinocerebellar ataxia type 1 (SCA1) gene, a polyglutamine neurodegenerative disorder, develop ataxia with ataxin-1 localized to aggregates within cerebellar Purkinje cells nuclei. To examine the importance of nuclear loc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::32e6908bd3a1ce4a5cc557dbef139ddf
https://pubmed.ncbi.nlm.nih.gov/9778239

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Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig

Autor: E W, Johnson, L M, Iyer, S S, Rich, H T, Orr, A, Gil-Nagel, J H, Kurth, J M, Zabramski, D A, Marchuk, J, Weissenbach, C L, Clericuzio, L E, Davis, B L, Hart, J F, Gusella, B E, Kosofsky, D N, Louis, L A, Morrison, E D, Green, J L, Weber

Publikováno v: Genome research. 5(4)

Cerebral cavernous malformations (CCM) are vascular lesions present in some 20 million people worldwide that are responsible for seizures, migraine, hemorrhage, and other neurologic problems. Familial cases ofCCM can be inherited as an autosomal domi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63bb8ed41f135844a9cf07ee727f798c
https://pubmed.ncbi.nlm.nih.gov/8750196

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Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia

Autor: L P, Ranum, J K, Lundgren, L J, Schut, M J, Ahrens, S, Perlman, J, Aita, T D, Bird, C, Gomez, H T, Orr

Publikováno v: American journal of human genetics. 57(3)

The ataxias are a complex group of diseases with both environmental and genetic causes. Among the autosomal dominant forms of ataxia the genes for two, spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD), have been isolated. In both

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7f2a17d4fa6af870736506826133cedd
https://pubmed.ncbi.nlm.nih.gov/7668288

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Temporal and spatial expression of HLA-G messenger RNA in extraembryonic tissues of transgenic mice

Autor: C M, Schmidt, H L, Chen, I, Chiu, R G, Ehlenfeldt, J S, Hunt, H T, Orr

Publikováno v: Journal of immunology (Baltimore, Md. : 1950). 155(2)

HLA-G, a nonclassical class I molecule, is expressed by trophoblasts, the only fetal cells in direct contact with maternal tissue. Results of previous experiments suggested that a 244-bp region located over 1 kb 5' from exon 1 is critical for extraem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb73c96c6be25474593e8361542fac11
https://pubmed.ncbi.nlm.nih.gov/7608540

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Cellular distribution of HLA-G mRNA in transgenic mouse placentas

Autor: K K, Yelavarthi, C M, Schmidt, R G, Ehlenfeldt, H T, Orr, J S, Hunt

Publikováno v: Journal of immunology (Baltimore, Md. : 1950). 151(7)

The human MHC class I gene, HLA-G, is unique among members of the class I gene family in that it is nonpolymorphic, and expression is primarily restricted to extraembryonic tissues. To examine regulatory elements that direct tissue- and cell lineage-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aa314353861b086d1c0698d05d1a84a3
https://pubmed.ncbi.nlm.nih.gov/8376798

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