Výsledky vyhledávání - "R. L. Nussbaum"

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

Autor: L Pollack, C T Caskey, R L Nussbaum, L C Cohan

Publikováno v: Clinical Genetics. 18:329-341

The mechanism of inheritance of sporadically occurring Duchenne muscular dystrophy has been investigated in 42 families, using carrier detection methods and genetic evaluation. Our studied find that serum CPK detects 72% of female carriers of DMD. Qu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f31b43aa0023b1b54407b1bfbe1651d
https://doi.org/10.1111/j.1399-0004.1980.tb02293.x

Zobrazit plný text záznamu

Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice

Autor: P I, Castagnet, M Y, Golovko, G C, Barceló-Coblijn, R L, Nussbaum, E J, Murphy

Publikováno v: Journal of neurochemistry. 94(3)

Because alpha-synuclein may function as a fatty acid binding protein, we measured fatty acid incorporation into astrocytes isolated from wild-type and alpha-synuclein gene-ablated mice. alpha-Synuclein deficiency decreased palmitic acid (16:0) incorp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ed41940b647394c447ca5f22e85fcc1a
https://pubmed.ncbi.nlm.nih.gov/16033426

Zobrazit plný text záznamu

Vitamin C Transporter Knock-out Leads to Severe Impairment of Adrenal Function

Autor: S. Sotiriou, M Yoshida-Hiroi, Graeme Eisenhofer, M. Levine, Stefan R. Bornstein, H. G. Hartwig, R. L. Nussbaum

Publikováno v: Hormone and Metabolic Research. 36

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d6c8d4538456d0eaf5615c0fc7280ea5
https://doi.org/10.1055/s-2004-830830

Zobrazit plný text záznamu

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]

Autor: H M, Mitchison, D J, Bernard, N D, Greene, J D, Cooper, M A, Junaid, R K, Pullarkat, N, de Vos, M H, Breuning, J W, Owens, W C, Mobley, R M, Gardiner, B D, Lake, P E, Taschner, R L, Nussbaum

Publikováno v: Neurobiology of disease. 6(5)

Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease. To facilitate studies of Batten disease pathogenesis and treatme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::88131849d9fb242ab80442a96341e4f9
https://pubmed.ncbi.nlm.nih.gov/10527801

Zobrazit plný text záznamu

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease

Publikováno v: DNA research : an international journal for rapid publication of reports on genes and genomes. 5(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8ac14961bb243b3599c0354363411158
https://pubmed.ncbi.nlm.nih.gov/10048491

Zobrazit plný text záznamu

First report of prenatal biochemical diagnosis of Lowe syndrome

Autor: S F, Suchy, T, Lin, J A, Horwitz, W E, O'Brien, R L, Nussbaum

Publikováno v: Prenatal diagnosis. 18(11)

The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder with a severe phenotype characterized by congenital cataracts, renal tubular dysfunction and neurological deficits. The gene has been characterized and mutations have been iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f6bb3152ad670b0c8592678064822bef
https://pubmed.ncbi.nlm.nih.gov/9854717

Zobrazit plný text záznamu

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

Autor: I M, Olivos-Glander, P A, Jänne, R L, Nussbaum

Publikováno v: American journal of human genetics. 57(4)

The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder affecting the lens, kidney, and CNS. The predicted amino acid sequence of the OCRL gene, OCRL-1, was used to develop antibodies against the OCRL-1 protein. Western blot analysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e4a1f317305d3638a98d70a2d3d7979
https://pubmed.ncbi.nlm.nih.gov/7573041

Zobrazit plný text záznamu

Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency

Autor: J M, Puck, C C, Stewart, R L, Nussbaum

Publikováno v: American journal of human genetics. 50(4)

Lymphocytes of female carriers of X-linked severe combined immunodeficiency (XSCID; McKusick 300400; HGM genetic locus designation SCIDX1) exhibit nonrandom X chromosome inactivation. This phenomenon reflects a tissue-specific selective disadvantage

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f74eacb1b37d9f325109d343019d505e
https://pubmed.ncbi.nlm.nih.gov/1550118

Zobrazit plný text záznamu

Linkage studies and deletion screening in choroideremia

Autor: Barrie Jay, R L Nussbaum, S. S. Bhattacharya, A F Wright, H. J. Evans, J G Lesko, Marcelle Jay

Publikováno v: Journal of medical genetics. 27(8)

Fourteen families with choroideremia (TCD) have been examined for linkage to nine genetic markers located on the proximal long arm of the X chromosome. Linkage to three markers (DXYS1, DXS72, DXS3) located in Xq21 was found with a four point lod scor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5f2ce974169765b731f88f8e190d82
https://pubmed.ncbi.nlm.nih.gov/1976814

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání