Search Results - "Garrett, Lisa J."
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CRISPR-Mediated Triple Knockout of SLAMF1, SLAMF5 and SLAMF6 Supports Positive Signaling Roles in NKT Cell Development
Published in PloS one (03-06-2016)“…The SLAM family receptors contribute to diverse aspects of lymphocyte biology and signal via the small adaptor molecule SAP. Mutations affecting SAP lead to…”
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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Published in American journal of human genetics (06-12-2018)“…Neurodevelopmental disorders (NDD) are genetically and phenotypically heterogeneous conditions due to defects in genes involved in development and function of…”
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Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection
Published in G3 : genes - genomes - genetics (01-02-2017)“…Cpf1 has emerged as an alternative to the Cas9 RNA-guided nuclease. Here we show that gene targeting rates in mice using Cpf1 can meet, or even surpass, Cas9…”
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A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter
Published in Blood (25-10-2012)“…The human ankyrin-1 gene (ANK1) contains 3 tissue-specific alternative promoters. We have shown previously that the erythroid-specific ankyrin 1 (ANK1E) core…”
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Reversible binding of hemoglobin to band 3 constitutes the molecular switch that mediates O2 regulation of erythrocyte properties
Published in Blood (08-12-2016)“…Functional studies have shown that the oxygenation state of the erythrocyte regulates many important pathways, including glucose metabolism, membrane…”
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The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color
Published in Pigment cell and melanoma research (01-03-2024)“…MFSD12 functions as a transmembrane protein required for import of cysteine into melanosomes and lysosomes. The MFSD12 locus has been associated with…”
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Functional Analysis of a Novel cis-Acting Regulatory Region within the Human Ankyrin Gene (ANK-1) Promoter
Published in Molecular and Cellular Biology (01-07-2010)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Regulation of erythrocyte Na+/K+/2Cl− cotransport by an oxygen-switched kinase cascade
Published in The Journal of biological chemistry (15-02-2019)“…Many erythrocyte processes and pathways, including glycolysis, the pentose phosphate pathway (PPP), KCl cotransport, ATP release, Na+/K+-ATPase activity,…”
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Disruption of Visc-2, a Brain-Expressed Conserved Long Noncoding RNA, Does Not Elicit an Overt Anatomical or Behavioral Phenotype
Published in Cerebral cortex (New York, N.Y. 1991) (01-10-2015)“…Although long noncoding RNAs (lncRNAs) are proposed to play essential roles in mammalian neurodevelopment, we know little of their functions from their…”
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The COP9 signalosome is vital for timely repair of DNA double-strand breaks
Published in Nucleic acids research (19-05-2015)“…The DNA damage response is vigorously activated by DNA double-strand breaks (DSBs). The chief mobilizer of the DSB response is the ATM protein kinase. We…”
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Hmgb3 deficiency deregulates proliferation and differentiation of common lymphoid and myeloid progenitors
Published in Blood (15-01-2005)“…Hmgb3 is an X-linked member of a family of chromatin-binding proteins that is expressed in primitive hematopoietic cells capable of long-term hematopoietic…”
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11-amino acid β-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes
Published in Proceedings of the National Academy of Sciences - PNAS (28-08-2007)“…The best-studied cytoskeletal system is the inner surface of the erythrocyte membrane, which provides an erythrocyte with the structural support needed to be…”
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Variegated Expression from the Murine Band 3 (AE1) Promoter in Transgenic Mice Is Associated with mRNA Transcript Initiation at Upstream Start Sites and Can Be Suppressed by the Addition of the Chicken β-Globin 5′ HS4 Insulator Element
Published in Molecular and Cellular Biology (01-07-2003)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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14
The C-terminus of CBFβ-SMMHC is required to induce embryonic hematopoietic defects and leukemogenesis
Published in Blood (24-01-2013)“…The C-terminus of CBFβ-SMMHC, the fusion protein produced by a chromosome 16 inversion in acute myeloid leukemia subtype M4Eo, contains domains for…”
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15
Normal Iron Homeostasis Requires the Transporter SLC48A1 for Efficient Heme-Iron Recycling in Mammals
Published in Frontiers in genome editing (20-10-2020)“…In mammals over 65% of the total body iron is located within erythrocytes in the heme moieties of hemoglobin. Iron homeostasis requires iron absorbed from the…”
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Method of Euthanasia Influences the Oocyte Fertilization Rate with Fresh Mouse Sperm
Published in Journal of the American Association for Laboratory Animal Science (01-11-2014)“…In vitro fertilization (IVF) is used to produce mouse embryos for a variety of reasons. We evaluated the effect of the method of euthanasia on the…”
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Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis
Published in The Journal of clinical investigation (01-12-2010)“…Defects of the ankyrin-1 gene are the most common cause in humans of hereditary spherocytosis, an inherited anemia that affects patients of all ethnic groups…”
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BP1 motif in the human β-globin promoter affects β-globin expression during embryonic/fetal erythropoiesis in transgenic mice bearing the human β-globin gene
Published in Blood cells, molecules, & diseases (01-11-2008)“…The binding of the transcription factor BP1 (β protein 1) to its site on the promoter of the adult β-globin gene has a silencing effect on β-globin…”
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Hmgb3: an HMG-box family member expressed in primitive hematopoietic cells that inhibits myeloid and B-cell differentiation
Published in Blood (15-08-2003)“…Hmgb3 is a member of a family of chromatin-binding proteins that can alter DNA structure to facilitate transcription factor binding. We identified the Hmgb3…”
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Erythroid expression of the human alpha-spectrin gene promoter is mediated by GATA-1- and NF-E2-binding proteins
Published in The Journal of biological chemistry (01-11-2002)“…alpha-Spectrin is a highly expressed membrane protein critical for the flexibility and stability of the erythrocyte. Qualitative and quantitative defects of…”
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