Zobrazeno 1 - 10 of 297 pro vyhledávání: '"Yw, Kan"'
1
Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily
Autor: A Maggio, A Giambona, SP Cai, J Wall, YW Kan, FF Chehab
Publikováno v: Blood. 81:239-242
The molecular lesions causing beta-thalassemia in Sicily can be subdivided into two groups. One that occurs at a 71% frequency and consists of the beta 39, IVS 1,110 and IVS 1,6 mutations and the other group at a 20% frequency comprising the -87, bet
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d176914ae26efb5589404b9a10b459bb
https://doi.org/10.1182/blood.v81.1.239.bloodjournal811239
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2
Molecular characterization of beta-thalassemia in the Sardinian population
Autor: Mc, Rosatelli, Dozy A, Valeria Faà, Meloni A, Sardu R, Saba L, Yw, Kan, Cao A
Publikováno v: Europe PubMed Central
This study reports the molecular characterization of beta-thalassemia in the Sardinian population. Three thousand beta-thalassemia chromosomes from prospective parents presenting at the genetic service were initially analyzed by dot blot analysis wit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::68e7678525fdf76eaaf9e0bb3203e23d
https://pubmed.ncbi.nlm.nih.gov/1734721
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3
Hydrops fetalis due to an unusual form of Hb H disease
Autor: V Chan, TK Chan, ST Liang, A Ghosh, YW Kan, D Todd
Publikováno v: Blood. 66:224-228
The occurrence of Hb H hydrops fetalis is reported for the first time. The mother has zeta-alpha thalassemia 1 (zeta zeta alpha alpha/----) and the father has non-deletion alpha thalassemia [zeta zeta alpha alpha/zeta zeta (alpha alpha)T]. The comple
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1f90572cb7209766f51f21db3edc1df2
https://doi.org/10.1182/blood.v66.1.224.bloodjournal661224
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4
A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA
Autor: V Chan, TK Chan, YW Kan, D Todd
Publikováno v: Blood. 72:1420-1423
A new frameshift mutation due to an insertion of G between codon 14/15 of the beta-globin gene was found in two unrelated Chinese patients with Cooley's anemia. The first patient (W.S.) was homozygous for haplotype 5 (Chinese) and carried a codon 41/
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e16f821dde0a26f38f41ac423cc154af
https://doi.org/10.1182/blood.v72.4.1420.bloodjournal7241420
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5
Hb Bart's level in cord blood and deletions of alpha-globin genes
Autor: LE Lie-Injo, A Solai, AR Herrera, L Nicolaisen, YW Kan, WP Wan, K Hasan
Publikováno v: Blood. 59:370-376
The white blood cell DNA of 36 cord blood samples with Hb Bart's in the red blood cells was studied for alpha-globin gene deletions by hybridization of DNA fragments digested by the restriction endonucleases Eco RI, Hpa I, Bam HI, and Bgl II. All 16
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c39b653af27b33ec29a7009de64ed834
https://doi.org/10.1182/blood.v59.2.370.bloodjournal592370
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6
The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG- alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia
Autor: LE Lie-Injo, AM Dozy, YW Kan, M Lopes, D Todd
Publikováno v: Blood. 54:1407-1416
Two Chinese patients with HbQ-alpha 2 74 Asp replaced by His beta 2- alpha-thalassemia, one HbQ-alpha 2 74 or 75 Asp replaced by His beta 2 carrier, and one HbG-alpha 2 30 Glu replaced by Gln beta 2 carrier were studied to determine the number of alp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd73c8e877cee3fef59bc3677a92f458
https://doi.org/10.1182/blood.v54.6.1407.bloodjournal5461407
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7
Molecular basis of hemoglobin-H disease in the Mediterranean population
Autor: YW Kan, AM Dozy, G Stamatoyannopoulos, MG Hadjiminas, Z Zachariades, M Furbetta, A Cao
Publikováno v: Blood. 54:1434-1438
We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::abb95e02976c442899a3d71b62a32914
https://doi.org/10.1182/blood.v54.6.1434.bloodjournal5461434
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8
Akademický článek
Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events.
Autor: Suzuki S; Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, San Francisco, CA, United States.; Department of Medicine, University of California, San Francisco, San Francisco, CA, United States.; Center for Stem Cell and Regenerative Medicine, Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX, United States., Chosa K; Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, San Francisco, CA, United States.; Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan., Barillà C; Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, San Francisco, CA, United States.; Center for Stem Cell and Regenerative Medicine, Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX, United States.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Yao M; Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, San Francisco, CA, United States., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Kai H; Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan., Shuto T; Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan., Suico MA; Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan., Kan YW; Department of Medicine, University of California, San Francisco, San Francisco, CA, United States.; Institutes for Human Genetics, University of California, San Francisco, San Francisco, CA, United States.; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, United States., Sargent RG; Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, San Francisco, CA, United States.; GeneTether Inc., San Lorenzo, CA, United States., Gruenert DC; Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, San Francisco, CA, United States.; Institutes for Human Genetics, University of California, San Francisco, San Francisco, CA, United States.; Department of Pediatrics, University of Vermont College of Medicine, Burlington, VT, United States.
Publikováno v: Frontiers in genome editing [Front Genome Ed] 2022 Apr 06; Vol. 4, pp. 843885. Date of Electronic Publication: 2022 Apr 06 (Print Publication: 2022).
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9
Akademický článek
Genetically edited CD34 + cells derived from human iPS cells in vivo but not in vitro engraft and differentiate into HIV-resistant cells.
Autor: Morvan MG; Department of Medicine, Division of Hematology and Oncology, University of California, San Francisco, CA 94143-1270., Teque F; Department of Medicine, Division of Hematology and Oncology, University of California, San Francisco, CA 94143-1270., Ye L; Department of Medicine, Institute of Human Genetics, University of California, San Francisco, CA 94143., Moreno ME; Department of Medicine, Division of Experimental Medicine, San Francisco General Hospital, University of California, San Francisco, CA 94110., Wang J; Department of Medicine, Institute of Human Genetics, University of California, San Francisco, CA 94143., VandenBerg S; Helen Diller Family Comprehensive Cancer Center, Biorepository and Tissue Biomarker Technology Core, University of California, San Francisco, CA 94143-0875., Stoddart CA; Department of Medicine, Division of Experimental Medicine, San Francisco General Hospital, University of California, San Francisco, CA 94110., Kan YW; Department of Medicine, Institute of Human Genetics, University of California, San Francisco, CA 94143; yw.kan@ucsf.edu Jay.Levy@ucsf.edu., Levy JA; Department of Medicine, Division of Hematology and Oncology, University of California, San Francisco, CA 94143-1270; yw.kan@ucsf.edu Jay.Levy@ucsf.edu.
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 May 18; Vol. 118 (20).
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10
Akademický článek
Induction of therapeutic levels of HbF in genome-edited primary β 0 39-thalassaemia haematopoietic stem and progenitor cells.
Autor: Mingoia M; Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, 09124, Italy., Caria CA; Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale Ricerche, Monserrato, 09042, Italy., Ye L; Department of Medicine and Institute for Human Genetics, University of California, San Francisco, CA, 93143, USA., Asunis I; Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale Ricerche, Monserrato, 09042, Italy., Marongiu MF; Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale Ricerche, Monserrato, 09042, Italy., Manunza L; Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, 09124, Italy., Sollaino MC; Ospedale Pediatrico 'A. Cao' - A.O. 'G. Brotzu', Cagliari, 09121, Italy., Wang J; Department of Medicine and Institute for Human Genetics, University of California, San Francisco, CA, 93143, USA., Cabriolu A; Center for Cell Engineering, Memorial Sloan Kettering Cancer Centre, New York, NY, 10065, USA., Kurita R; Cell Engineering Division, RIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan., Nakamura Y; Cell Engineering Division, RIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan., Cucca F; Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale Ricerche, Monserrato, 09042, Italy., Kan YW; Department of Medicine and Institute for Human Genetics, University of California, San Francisco, CA, 93143, USA., Marini MG; Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale Ricerche, Monserrato, 09042, Italy., Moi P; Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, 09124, Italy.; Ospedale Pediatrico 'A. Cao' - A.O. 'G. Brotzu', Cagliari, 09121, Italy.
Publikováno v: British journal of haematology [Br J Haematol] 2021 Jan; Vol. 192 (2), pp. 395-404. Date of Electronic Publication: 2020 Nov 20.
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