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1. Full Text Dye sensitizers for photodynamic therapy
by Ormond, Alexandra B and Freeman, Harold S
Materials, ISSN 1996-1944, 2013, Volume 6, Issue 3, pp. 817 - 840
Clinical trials | Photodynamic therapy | Target organs | Photosensitizers | Porphyrins | Materials Science | Technology | Materials Science, Multidisciplinary | Science & Technology | clinical trials | target organs | photosensitizers | photodynamic therapy | porphyrins
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2. Full Text Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
by Zhang, Yu, PhD and Yu, Xiaomin, PhD and Ichikawa, Mie, BSc and Lyons, Jonathan J., MD and Datta, Shrimati, PhD and Lamborn, Ian T., BSc and Jing, Huie, PhD and Kim, Emily S., BSc and Biancalana, Matthew, BSc and Wolfe, Lynne A., CRNP and DiMaggio, Thomas, ADN and Matthews, Helen F., BSN and Kranick, Sarah M., MD and Stone, Kelly D., MD, PhD and Holland, Steven M., MD and Reich, Daniel S., MD, PhD and Hughes, Jason D., PhD and Mehmet, Huseyin, PhD and McElwee, Joshua, PhD and Freeman, Alexandra F., MD and Freeze, Hudson H., PhD and Su, Helen C., MD, PhD and Milner, Joshua D., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1400 - 1409.e5
Allergy and Immunology | immune deficiency | autoimmunity | phosphoglucomutase 3 | glycosylation | allergy | hyper-IgE | neurocognitive impairment | Atopy | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Common Variable Immunodeficiency - immunology | CD8-Positive T-Lymphocytes - pathology | Hypersensitivity - enzymology | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Hypersensitivity - immunology | Male | Th2 Cells - immunology | Genetic Diseases, Inborn - pathology | Common Variable Immunodeficiency - enzymology | Autoimmune Diseases - genetics | Young Adult | Immunoglobulin E - immunology | Immunoglobulin E - genetics | Female | Hypersensitivity - genetics | B-Lymphocytes - pathology | Cognition Disorders - immunology | Autoimmune Diseases - pathology | Child | Th2 Cells - pathology | Phosphoglucomutase - metabolism | Th17 Cells - pathology | Cognition Disorders - enzymology | B-Lymphocytes - enzymology | Th17 Cells - enzymology | Autoimmune Diseases - enzymology | Autoimmune Diseases - immunology | Cognition Disorders - pathology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Cognition Disorders - genetics | CD8-Positive T-Lymphocytes - enzymology | B-Lymphocytes - immunology | Hypersensitivity - pathology | Pedigree | Genetic Diseases, Inborn - enzymology | Th17 Cells - immunology | Family | Phosphoglucomutase - immunology | Mutation | CD8-Positive T-Lymphocytes - immunology | Th2 Cells - enzymology | Phosphoglucomutase - genetics | Autoimmunity | Nervous system diseases | Genomics | Immunodeficiency | Genetic research | Disease susceptibility | Genetic aspects | Food allergies | Enzymes | Nuclear magnetic resonance--NMR | Disease | Infections | Dermatitis | Patients | Allergies | Asthma | Defects | Proteins | Lasers | Spectrum analysis | Viral infections | Index Medicus | Abridged Index Medicus
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3. Full Text Recommendations for designing genetic test reports to be understood by patients and non-specialists
by Farmer, George D and Gray, Harry and Chandratillake, Gemma and Raymond, F. Lucy and Freeman, Alexandra L. J
European journal of human genetics : EJHG, ISSN 1018-4813, 07/2020, Volume 28, Issue 7, pp. 885 - 895
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic screening | Index Medicus | Genetic test reports | user-centred design | risk communication
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4. Full Text Combined Immunodeficiency Associated with DOCK8 Mutations
by Zhang, Qian and Davis, Jeremiah C and Davis, Joie and Lamborn, Ian T and Freeman, Alexandra F and Jing, Huie and Favreau, Amanda J and Matthews, Helen F and Turner, Maria L and Uzel, Gulbu and Holland, Steven M and Su, Helen C
The New England journal of medicine, ISSN 0028-4793, 11/2009, Volume 361, Issue 21, pp. 2046 - 2055
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Guanine Nucleotide Exchange Factors - genetics | Skin Diseases, Infectious - genetics | Lymphocyte Activation | Humans | Male | Severe Combined Immunodeficiency - immunology | Genes, Recessive | Respiratory Tract Infections - genetics | CD8-Positive T-Lymphocytes - physiology | Severe Combined Immunodeficiency - genetics | Guanine Nucleotide Exchange Factors - metabolism | Pedigree | Gene Deletion | Immunoglobulins - blood | Respiratory Tract Infections - immunology | Female | Skin Diseases, Infectious - immunology | Longitudinal Studies | Virus diseases | Polymerase chain reaction | Usage | Gene mutations | Staphylococcal infections | Analysis | Causes of | Immunological deficiency syndromes | Otitis media | Genetic aspects | Health aspects | Mutation | Disease | Lymphocytes | Viral infections | Immune system | Index Medicus | Abridged Index Medicus
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5. Full Text A Critical Role for STAT3 Transcription Factor Signaling in the Development and Maintenance of Human T Cell Memory
by Siegel, Andrea M and Heimall, Jennifer and Freeman, Alexandra F and Hsu, Amy P and Brittain, Erica and Brenchley, Jason M and Douek, Daniel C and Fahle, Gary H and Cohen, Jeffrey I and Holland, Steven M and Milner, Joshua D
Immunity (Cambridge, Mass.), ISSN 1074-7613, 2011, Volume 35, Issue 5, pp. 806 - 818
Life Sciences & Biomedicine | Immunology | Science & Technology | Job Syndrome - immunology | Job Syndrome - genetics | Job Syndrome - virology | Humans | Middle Aged | Child, Preschool | Apoptosis - genetics | Herpesvirus 3, Human - immunology | Male | Young Adult | T-Lymphocytes - metabolism | Gene Expression Regulation, Developmental | Base Sequence | Adult | Female | Child | Immunologic Memory - genetics | STAT3 Transcription Factor - genetics | STAT3 Transcription Factor - metabolism | Signal Transduction | Epstein-Barr Virus Infections - immunology | Phenotype | Apoptosis - immunology | Adolescent | T-Lymphocytes - immunology | Mutation | Allergy | Mycoses | Immunoglobulin E | Epstein-Barr virus | Disease susceptibility | DNA binding proteins | T cells | Health aspects | Allergic reaction | Confidence intervals | Transcription factors | Cytokines | Rodents | T cell receptors | Infections | Software | Age | Deoxyribonucleic acid--DNA | Defects | Index Medicus
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6. Full Text Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome
by Su, Helen C and Jing, Huie and Angelus, Pam and Freeman, Alexandra F
Immunological reviews, ISSN 0105-2896, 01/2019, Volume 287, Issue 1, pp. 9 - 19
hyperimmunoglobulinemia E syndrome | DOCK8 | atopic dermatitis | cancer | food allergy | combined immunodeficiency | virus infections | Life Sciences & Biomedicine | Immunology | Science & Technology | Genetic Therapy | Immunologic Deficiency Syndromes - therapy | Guanine Nucleotide Exchange Factors - genetics | Pneumonia | Disease Susceptibility | Humans | Hematopoietic Stem Cell Transplantation | Neoplasms, Squamous Cell | Clustered Regularly Interspaced Short Palindromic Repeats | Eczema | Immunologic Deficiency Syndromes - genetics | Vasculitis, Central Nervous System | T-Lymphocytes - immunology | Immunologic Deficiency Syndromes - immunology | Recombination | Helper cells | Stem cell transplantation | Viruses | Transplantation | Lymphocytes T | Infections | Immunity | DNA repair | Hematopoietic stem cells | Proteins | Vascular diseases | Lymphocytes | Skin diseases | Food hypersensitivity | Deoxyribonucleic acid--DNA | Food | Food allergies | Phenotypes | Cell survival | Immunoregulation | Immunodeficiency | Cures | Allergies | Hemopoiesis | Stem cells | Skin | Cell migration | Index Medicus | hyper-immunoglobulinemia E syndrome
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7. Full Text Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
by Uzel, Gulbu, MD and Sampaio, Elizabeth P., MD, PhD and Lawrence, Monica G., MD and Hsu, Amy P., BA and Hackett, Mary, BSN and Dorsey, Morna J., MD and Noel, Richard J., MD and Verbsky, James W., MD, PhD and Freeman, Alexandra F., MD and Janssen, Erin, MD and Bonilla, Francisco A., MD, PhD and Pechacek, Joseph, MS and Chandrasekaran, Prabha, PhD and Browne, Sarah K., MD and Agharahimi, Anahita, MSN, CRNP and Gharib, Ahmed M., MD and Mannurita, Sara C., MD and Yim, Jae Joon, MD, MPH and Gambineri, Eleonora, MD and Torgerson, Troy, MD, PhD and Tran, Dat Q., MD and Milner, Joshua D., MD and Holland, Steven M., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous | Biological and medical sciences | Medical sciences | Blood and lymphatic vessels | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects | Index Medicus | Abridged Index Medicus
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8. Full Text Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation
by Siegel, Andrea M., PhD and Stone, Kelly D., MD, PhD and Cruse, Glenn, PhD and Lawrence, Monica G., MD and Olivera, Ana, PhD and Jung, Mi-yeon, PhD and Barber, John S., BA and Freeman, Alexandra F., MD and Holland, Steven M., MD and O'Brien, Michelle, RN and Jones, Nina, RN and Wisch, Laura B., RN and Kong, Heidi H., MD, MHSc and Desai, Avanti, MA and Farber, Orly and Gilfillan, Alasdair M., PhD and Rivera, Juan, PhD and Milner, Joshua D., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 132, Issue 6, pp. 1388 - 1396.e3
Allergy and Immunology | mast cell | Autosomal dominant hyper-IgE syndrome | signal transducer and activator of transcription 3 | degranulation | Job syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Job Syndrome - immunology | Dermatitis, Atopic - genetics | Job Syndrome - genetics | Humans | Middle Aged | Child, Preschool | Infant | Male | Incidence | Young Adult | Cell Degranulation - genetics | Food Hypersensitivity - immunology | STAT3 Transcription Factor - physiology | Dermatitis, Atopic - immunology | Adult | Female | Child | STAT3 Transcription Factor - genetics | Food Hypersensitivity - genetics | Mast Cells - immunology | Immunoglobulin E - metabolism | Mice, Inbred C57BL | Transgenes - genetics | Cells, Cultured | Mice, Transgenic | Signal Transduction - genetics | Food Hypersensitivity - epidemiology | Mutation - genetics | Job Syndrome - epidemiology | Animals | Adolescent | Aged | Mice | Immunoglobulin E | Care and treatment | Immunogenetics | Genetic aspects | Allergic reaction | Studies | Human subjects | Food allergies | Plasma | Disease | Pathogenesis | Mutation | Dermatitis | Allergies | Food | Index Medicus | Abridged Index Medicus
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