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Gene duplication of zebrafish JAK2 homologs is accompanied by divergent embryonic expression patterns: only jak2a is expressed during erythropoiesis

Autor: A C, Oates, A, Brownlie, S J, Pratt, D V, Irvine, E C, Liao, B H, Paw, K J, Dorian, S L, Johnson, J H, Postlethwait, L I, Zon, A F, Wilks

Publikováno v: Blood. 94(8)

Members of the JAK family of protein tyrosine kinase (PTK) proteins are required for the transmission of signals from a variety of cell surface receptors, particularly those of the cytokine receptor family. JAK function has been implicated in hematop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6d22529b80282a7eacddbae28ba59055
https://pubmed.ncbi.nlm.nih.gov/10515866

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Zebrafish stat3 is expressed in restricted tissues during embryogenesis and stat1 rescues cytokine signaling in a STAT1-deficient human cell line

Autor: A C, Oates, P, Wollberg, S J, Pratt, B H, Paw, S L, Johnson, R K, Ho, J H, Postlethwait, L I, Zon, A F, Wilks

Publikováno v: Developmental dynamics : an official publication of the American Association of Anatomists. 215(4)

Transcription factors of the STAT family are required for cellular responses to multiple signaling molecules. After ligand binding-induced activation of cognate receptors, STAT proteins are phosphorylated, hetero- or homodimerize, and translocate to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8f84ed23ca7e0dcae812a402ac47ce75
https://pubmed.ncbi.nlm.nih.gov/10417824

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Primary fibroblast cell culture

Autor: B H, Paw, L I, Zon

Publikováno v: Methods in cell biology. 59

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::36cf2141170e34e3a10e52b9b59578ee
https://pubmed.ncbi.nlm.nih.gov/9891354

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Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

Autor: B H, Paw, P T, Tieu, M M, Kaback, J, Lim, E F, Neufeld

Publikováno v: American journal of human genetics. 47(4)

Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses. We have examined the distribution of three mutations--a 4-nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6c1277e653633c7505b02ed0ce1ca77c
https://pubmed.ncbi.nlm.nih.gov/2220809

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Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase

Autor: B H, Paw, S M, Moskowitz, N, Uhrhammer, N, Wright, M M, Kaback, E F, Neufeld

Publikováno v: The Journal of biological chemistry. 265(16)

Juvenile GM2 gangliosidosis is a rare neurodegenerative disorder closely related to Tay-Sachs disease but of later onset and more protracted course. The biochemical defect lies in the alpha-subunit of the lysosomal enzyme beta-hexosaminidase. Culture

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7dc9216429a794f0d06f31bdd175c7b1
https://pubmed.ncbi.nlm.nih.gov/2140574

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Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation

Autor: B H, Paw, E F, Neufeld

Publikováno v: The Journal of biological chemistry. 263(6)

Tay-Sachs disease is a biochemically heterogeneous lysosomal storage disorder caused by lack of the A isoenzyme of beta-hexosaminidase; the underlying defect is a mutation in the gene encoding the alpha-chain. It has been shown that fibroblasts isola

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a123ef7a5ef2d6bbb468c9514938183e
https://pubmed.ncbi.nlm.nih.gov/2449434

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