المؤلفون: Berardinelli SJ; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Sillato AR; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Grady RC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Neupane S; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Ito A; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Haltiwanger RS; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Holdener BC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.

المصدر: Glycobiology [Glycobiology] 2023 May 17; Vol. 33 (4), pp. 301-310.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9104124 Publication Model: Print Cited Medium: Internet ISSN: 1460-2423 (Electronic) Linking ISSN: 09596658 NLM ISO Abbreviation: Glycobiology Subsets: MEDLINE

مواضيع طبية MeSH: Fucosyltransferases*/metabolism , Thrombospondin 1*/genetics , Thrombospondin 1*/metabolism, Animals ; Humans ; Mice ; Fucose/metabolism ; Glucose ; HEK293 Cells ; Mannose ; Secretory Vesicles/metabolism ; Thrombospondins/genetics

المؤلفون: Berardinelli SJ; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Resource Center, University of Georgia, Athens, Georgia, USA., Eletsky A; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Resource Center, University of Georgia, Athens, Georgia, USA., Valero-González J; Institute for Biocomputation and Physics of Complex Systems (BIFI), University of Zaragoza, Zaragoza, Spain., Ito A; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Resource Center, University of Georgia, Athens, Georgia, USA., Manjunath R; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Resource Center, University of Georgia, Athens, Georgia, USA., Hurtado-Guerrero R; Institute for Biocomputation and Physics of Complex Systems (BIFI), University of Zaragoza, Zaragoza, Spain; Fundación Agencia Aragonesa para la Investigación y Desarrollo (ARAID), Zaragoza, Spain; Department of Cellular and Molecular Medicine, Copenhagen Center for Glycomics, University of Copenhagen, Copenhagen, Denmark., Prestegard JH; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Resource Center, University of Georgia, Athens, Georgia, USA., Woods RJ; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Resource Center, University of Georgia, Athens, Georgia, USA., Haltiwanger RS; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Resource Center, University of Georgia, Athens, Georgia, USA. Electronic address: rhalti@uga.edu.

المصدر: The Journal of biological chemistry [J Biol Chem] 2022 Jun; Vol. 298 (6), pp. 102047. Date of Electronic Publication: 2022 May 18.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Fucose*/metabolism , Fucosyltransferases*/metabolism , Thrombospondin 1*/chemistry, Animals ; Disaccharides ; Disulfides ; Endoplasmic Reticulum/metabolism ; Galactosyltransferases ; Glucose ; Glucosyltransferases/metabolism ; HEK293 Cells ; Humans ; Mice ; Molecular Dynamics Simulation

المؤلفون: Neupane S; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, 11794, USA., Berardinelli SJ; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Cameron DC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, 11794, USA., Grady RC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, 11794, USA., Komatsu DE; Department of Orthopaedics and Rehabilitation, Stony Brook University, Stony Brook, NY 11794, USA., Percival CJ; Department of Anthropology, Stony Brook University, Stony Brook, NY 11794, USA., Takeuchi M; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Ito A; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Liu TW; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Nairn AV; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Moremen KW; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Haltiwanger RS; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Holdener BC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, 11794, USA. Electronic address: Bernadette.Holdener@stonybrook.edu.

المصدر: Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2022 Mar; Vol. 107, pp. 77-96. Date of Electronic Publication: 2022 Feb 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9432592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-1802 (Electronic) Linking ISSN: 0945053X NLM ISO Abbreviation: Matrix Biol Subsets: MEDLINE

مواضيع طبية MeSH: Fucosyltransferases*/chemistry , Fucosyltransferases*/genetics , Fucosyltransferases*/metabolism , Thrombospondins*, Animals ; Bone Development ; Extracellular Matrix/metabolism ; HEK293 Cells ; Homeodomain Proteins ; Humans ; Mice

المؤلفون: Neupane S; Department of Biochemistry and Cell Biology, Stony Brook University, 450 Life Science Building, Stony Brook, NY 11794-5215, USA., Goto J; Division of Neurosurgery, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA., Berardinelli SJ; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, 315 Riverbend Road, Athens, GA 30602, USA., Ito A; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, 315 Riverbend Road, Athens, GA 30602, USA., Haltiwanger RS; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, 315 Riverbend Road, Athens, GA 30602, USA., Holdener BC; Department of Biochemistry and Cell Biology, Stony Brook University, 450 Life Science Building, Stony Brook, NY 11794-5215, USA.

المصدر: Glycobiology [Glycobiology] 2021 Sep 09; Vol. 31 (8), pp. 988-1004.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9104124 Publication Model: Print Cited Medium: Internet ISSN: 1460-2423 (Electronic) Linking ISSN: 09596658 NLM ISO Abbreviation: Glycobiology Subsets: MEDLINE

مواضيع طبية MeSH: Hydrocephalus*/genetics , Limb Deformities, Congenital*/genetics , Subcommissural Organ*/metabolism, Animals ; Glucosyltransferases/genetics ; Glycosyltransferases ; Growth Disorders/genetics ; Mice

المؤلفون: Zhang A; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA., Berardinelli SJ; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA., Leonhard-Melief C; Department of Biochemistry and Cell Biology, Stony Brook University, New York, USA., Vasudevan D; Department of Biochemistry and Cell Biology, Stony Brook University, New York, USA., Liu TW; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA., Taibi A; Department of Biochemistry and Cell Biology, Stony Brook University, New York, USA., Giannone S; Department of Biochemistry and Cell Biology, Stony Brook University, New York, USA., Apte SS; Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA., Holdener BC; Department of Biochemistry and Cell Biology, Stony Brook University, New York, USA., Haltiwanger RS; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA; Department of Biochemistry and Cell Biology, Stony Brook University, New York, USA. Electronic address: rhalti@uga.edu.

المصدر: The Journal of biological chemistry [J Biol Chem] 2020 Nov 13; Vol. 295 (46), pp. 15742-15753. Date of Electronic Publication: 2020 Sep 10.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: ADAMTS Proteins/*metabolism , Bone Diseases, Developmental/*pathology , Extracellular Matrix Proteins/*metabolism , Limb Deformities, Congenital/*pathology, ADAMTS Proteins/chemistry ; ADAMTS Proteins/genetics ; Amino Acid Sequence ; Animals ; Bone Diseases, Developmental/genetics ; CRISPR-Cas Systems/genetics ; Disaccharides/chemistry ; Extracellular Matrix Proteins/chemistry ; Extracellular Matrix Proteins/genetics ; Fucosyltransferases/deficiency ; Fucosyltransferases/genetics ; Gene Editing ; Glycosylation ; Glycosyltransferases/deficiency ; Glycosyltransferases/genetics ; HEK293 Cells ; Humans ; Limb Deformities, Congenital/genetics ; Mannose/chemistry ; Mice ; Mutagenesis, Site-Directed ; Protein Domains ; Recombinant Proteins/biosynthesis ; Recombinant Proteins/chemistry ; Recombinant Proteins/isolation & purification ; Sequence Alignment

SCR Disease Name: Acromicric dysplasia

المؤلفون: Holdener BC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Percival CJ; Department of Anthropology, Stony Brook University, Stony Brook, NY 11794, USA., Grady RC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Cameron DC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Berardinelli SJ; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Zhang A; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Neupane S; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Takeuchi M; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Jimenez-Vega JC; Department of Bioengineering, Stony Brook University, Stony Brook, NY 11794, USA., Uddin SMZ; Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA., Komatsu DE; Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA., Honkanen R; Department of Ophthalmology, Stony Brook University, Stony Brook, NY 11794, USA., Dubail J; Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA., Apte SS; Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA., Sato T; National Institute of Advanced Industrial Science and Technology, Tokyo, Japan., Narimatsu H; National Institute of Advanced Industrial Science and Technology, Tokyo, Japan., McClain SA; Department of Dermatology and Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA.; Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA., Haltiwanger RS; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2020 Oct 10; Vol. 29 (17), pp. 2986-2987.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Berardinelli SJ; Department of Biochemistry and Molecular Biology, and Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Haltiwanger RS; Department of Biochemistry and Molecular Biology, and Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA. rhalti@uga.edu.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2020; Vol. 2043, pp. 25-43.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: ADAMTS Proteins/*metabolism , Fucose/*metabolism , Fucosyltransferases/*genetics , Galactosyltransferases/*genetics , Glucosyltransferases/*genetics, ADAMTS Proteins/chemistry ; Animals ; Endoplasmic Reticulum/metabolism ; Fucosyltransferases/metabolism ; Galactosyltransferases/metabolism ; Gene Knockout Techniques ; Glucosyltransferases/metabolism ; Glycosylation ; Golgi Apparatus/metabolism ; HEK293 Cells ; Humans ; Protein Folding

المؤلفون: Holdener BC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Percival CJ; Department of Anthropology, Stony Brook University, Stony Brook, NY 11794, USA., Grady RC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Cameron DC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Berardinelli SJ; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Zhang A; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Neupane S; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA., Takeuchi M; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Jimenez-Vega JC; Department of Bioengineering, Stony Brook University, Stony Brook, NY 11794, USA., Uddin SMZ; Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA., Komatsu DE; Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA., Honkanen R; Department of Ophthalmology, Stony Brook University, Stony Brook, NY 11794, USA., Dubail J; Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA., Apte SS; Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA., Sato T; National Institute of Advanced Industrial Science and Technology, Tokyo, Japan., Narimatsu H; National Institute of Advanced Industrial Science and Technology, Tokyo, Japan., McClain SA; Department of Dermatology and Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA.; Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA., Haltiwanger RS; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2019 Dec 15; Vol. 28 (24), pp. 4053-4066.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: ADAMTS Proteins/*metabolism , ADAMTS9 Protein/*metabolism , Cleft Lip/*metabolism , Cornea/*abnormalities , Glycosyltransferases/*deficiency , Growth Disorders/*metabolism , Limb Deformities, Congenital/*metabolism, Alleles ; Animals ; Cleft Lip/enzymology ; Cleft Lip/genetics ; Cornea/enzymology ; Cornea/metabolism ; Disease Models, Animal ; Female ; Fucosyltransferases/genetics ; Fucosyltransferases/metabolism ; Glycogen Debranching Enzyme System/metabolism ; Glycosyltransferases/genetics ; Glycosyltransferases/metabolism ; Growth Disorders/enzymology ; Growth Disorders/genetics ; Limb Deformities, Congenital/enzymology ; Limb Deformities, Congenital/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mutation ; Organogenesis/genetics

SCR Disease Name: Krause-Kivlin syndrome

المؤلفون: Mendoza JL; Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA.; Departments of Molecular and Cellular Physiology and Structural Biology, Stanford University School of Medicine, Stanford, CA, USA.; Institute for Molecular Engineering and Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, IL, USA., Escalante NK; Stanford Blood Center, Palo Alto, CA, USA.; Department of Pathology, School of Medicine, Stanford University, Palo Alto, CA, USA., Jude KM; Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA.; Departments of Molecular and Cellular Physiology and Structural Biology, Stanford University School of Medicine, Stanford, CA, USA., Sotolongo Bellon J; Division of Biophysics, Department of Biology, University of Osnabruck, Osnabruck, Germany., Su L; Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA.; Departments of Molecular and Cellular Physiology and Structural Biology, Stanford University School of Medicine, Stanford, CA, USA., Horton TM; Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA.; Departments of Molecular and Cellular Physiology and Structural Biology, Stanford University School of Medicine, Stanford, CA, USA., Tsutsumi N; Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA.; Departments of Molecular and Cellular Physiology and Structural Biology, Stanford University School of Medicine, Stanford, CA, USA., Berardinelli SJ; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Haltiwanger RS; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Piehler J; Division of Biophysics, Department of Biology, University of Osnabruck, Osnabruck, Germany., Engleman EG; Stanford Blood Center, Palo Alto, CA, USA.; Department of Pathology, School of Medicine, Stanford University, Palo Alto, CA, USA., Garcia KC; Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA. kcgarcia@stanford.edu.; Departments of Molecular and Cellular Physiology and Structural Biology, Stanford University School of Medicine, Stanford, CA, USA. kcgarcia@stanford.edu.

المصدر: Nature [Nature] 2019 Mar; Vol. 567 (7746), pp. 56-60. Date of Electronic Publication: 2019 Feb 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature

مواضيع طبية MeSH: Drug Design*, Interferon-gamma/*agonists , Interferon-gamma/*immunology , Receptors, Interferon/*chemistry , Receptors, Interferon/*metabolism, B7-H1 Antigen/biosynthesis ; B7-H1 Antigen/genetics ; Cell Line, Tumor ; Drug Partial Agonism ; Gene Expression Profiling ; Gene Expression Regulation/drug effects ; Histocompatibility Antigens Class I/biosynthesis ; Histocompatibility Antigens Class I/genetics ; Humans ; Interferon-gamma/chemistry ; Interferon-gamma/genetics ; Ligands ; Models, Molecular ; Mutation ; Mycobacterium Infections/genetics ; Mycobacterium Infections/immunology ; Protein Stability ; Receptors, Interferon/genetics ; Signal Transduction ; Structure-Activity Relationship ; Interferon gamma Receptor

المؤلفون: Takeuchi H; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794-5215, USA.; Complex Carbohydrate Research Center, The University of Georgia, Athens, GA 30602-4712, USA., Wong D; Department of Pediatrics, University of California at Los Angeles, Los Angeles, CA 90095, USA., Schneider M; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794-5215, USA., Freeze HH; Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Takeuchi M; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794-5215, USA.; Complex Carbohydrate Research Center, The University of Georgia, Athens, GA 30602-4712, USA., Berardinelli SJ; Complex Carbohydrate Research Center, The University of Georgia, Athens, GA 30602-4712, USA., Ito A; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794-5215, USA.; Complex Carbohydrate Research Center, The University of Georgia, Athens, GA 30602-4712, USA., Lee H; Department of Pathology and Laboratory Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA., Nelson SF; Department of Pathology and Laboratory Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.; Department of Human Genetics, University of California at Los Angeles, Los Angeles, CA 90095, USA., Haltiwanger RS; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794-5215, USA.; Complex Carbohydrate Research Center, The University of Georgia, Athens, GA 30602-4712, USA.

المصدر: Glycobiology [Glycobiology] 2018 May 01; Vol. 28 (5), pp. 276-283.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9104124 Publication Model: Print Cited Medium: Internet ISSN: 1460-2423 (Electronic) Linking ISSN: 09596658 NLM ISO Abbreviation: Glycobiology Subsets: MEDLINE

مواضيع طبية MeSH: Cardiovascular Diseases/*genetics , Developmental Disabilities/*genetics , Fucosyltransferases/*genetics , Fucosyltransferases/*metabolism , Genetic Variation/*genetics , Microcephaly/*genetics, Cells, Cultured ; HEK293 Cells ; Humans ; Mutation