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1. Full Text Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency
by Hauck, Fabian, MD and Randriamampita, Clotilde, PhD and Martin, Emmanuel, PhD and Gerart, Stéphane, PhD and Lambert, Nathalie, AS and Lim, Annick, MS and Soulier, Jean, MD, PhD and Maciorowski, Zosia, BS and Touzot, Fabien, MD, PhD and Moshous, Despina, MD, PhD and Quartier, Pierre, MD and Heritier, Sébastien, MD and Blanche, Stéphane, MD and Rieux-Laucat, Fréderic, PhD and Brousse, Nicole, MD and Callebaut, Isabelle, PhD and Veillette, André, MD and Hivroz, Claire, PhD and Fischer, Alain, MD, PhD and Latour, Sylvain, PhD and Picard, Capucine, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 5, pp. 1144 - 1152.e11
Background Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte–specific protein... 
Allergy and Immunology | LCK, SRC tyrosine kinase | recurrent infections | CD4 | T-cell receptor signaling | autoinflammation | immunodeficiency | genetic defect | lymphopenia | ACTIVATION | COMPLEX | SRC tyrosine kinase | PROTEIN-TYROSINE KINASES | P56(LCK) | IMMUNOLOGY | MICE LACKING | SIGNAL-TRANSDUCTION | ALLERGY | LCK | MUTATION | DOCK8 DEFICIENCY | FYN | ANTIGEN RECEPTOR | Genetic Predisposition to Disease | T-Lymphocytopenia, Idiopathic CD4-Positive - diagnosis | Receptors, Antigen, T-Cell - metabolism | Genes, Recessive - genetics | Humans | Cells, Cultured | Child, Preschool | T-Lymphocytopenia, Idiopathic CD4-Positive - genetics | Mutation, Missense - genetics | Polymorphism, Genetic | CD4-Positive T-Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Immunologic Deficiency Syndromes - genetics | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - chemistry | Female | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - genetics | Calcium Signaling - genetics | France | Immunologic Deficiency Syndromes - diagnosis | Tyrosine | Antigens | T cells | Genes | Immunodeficiency | T cell receptors | Infections | Kinases | Viral infections | Immune system | Autoimmunity | Calcium mobilization | Phosphorylation | CD8 antigen | Recurrent infection | Inflammation | Lymphocytes T | Risk factors | CD4 antigen | Calcium signalling | T-cell receptor | Missense mutation | Lymphopenia | Lck protein | Respiratory tract diseases | Differentiation | Protein-tyrosine kinase | Age | uniparental disomy | Life Sciences | Biochemistry, Molecular Biology
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2. Full Text An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation
by Le Guen, Tangui, PhD and Touzot, Fabien, MD, PhD and André-Schmutz, Isabelle, PhD and Lagresle-Peyrou, Chantal, PhD and France, Benoit, MSc and Kermasson, Laetitia and Lambert, Nathalie and Picard, Capucine, MD, PhD and Nitschke, Patrick, PhD and Carpentier, Wassila, PhD and Bole-Feysot, Christine, PhD and Lim, Annick, PhD and Cavazzana, Marina, MD, PhD and Callebaut, Isabelle, PhD and Soulier, Jean, MD, PhD and Jabado, Nada, MD, PhD and Fischer, Alain, MD, PhD and de Villartay, Jean-Pierre, PhD and Revy, Patrick, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 6, pp. 1619 - 1626.e5
Background Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a... 
Allergy and Immunology | immunodeficiency | genetic reversion | histone deubiquitinase | Hematopoiesis | MYSM1 | STEM-CELLS | EPIGENETIC CONTROL | CELL-DEVELOPMENT | IMMUNOLOGY | FANCONI-ANEMIA | PROGENITOR | ALLERGY | HISTONE H2A DEUBIQUITINASE | CHAINS | T-CELLS | MOSAICISM | B-Lymphocytes - cytology | T-Lymphocytes - cytology | Humans | Immunologic Deficiency Syndromes - genetics | Hematopoiesis - genetics | Infant | Male | Cell Differentiation | Mutation | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Lymphopenia - genetics | Genetic research | B cells | T cells | Genomics | Hematopoietic stem cells | Immunodeficiency | Chromatin | Analysis | DNA binding proteins | Immunoglobulins | Genomes | Gene expression | Proteins | Lymphocytes | Quality | Bone marrow | DNA methylation | Epigenetics | Software | Thermal cycling | Deoxyribonucleic acid--DNA | Life Sciences
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3. Full Text Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita
by Touzot, Fabien, MD, PhD and Gaillard, Laetitia and Vasquez, Nadia and Le Guen, Tangui, MSc and Bertrand, Yves, MD, PhD and Bourhis, Jean, MD, PhD and Leblanc, Thierry, MD, PhD and Fischer, Alain, MD, PhD and Soulier, Jean, MD, PhD and de Villartay, Jean-Pierre, PhD and Revy, Patrick, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 129, Issue 2, pp. 473 - 482.e3
Background Telomeres represent the tips of linear chromosomes. In human subjects telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare... 
Allergy and Immunology | senescence | bone marrow failure | dyskeratosis congenita | Hoyeraal-Hreidarsson syndrome | Telomere | immune deficiencies | SHELTERIN | IMMUNOLOGY | CANCER | HAPLOINSUFFICIENCY | REPAIR | ALLERGY | HEMATOPOIETIC STEM-CELLS | ANTICIPATION | MUTATIONS | CONTRIBUTES | CEREBELLAR HYPOPLASIA | IMMUNODEFICIENCY | Fibroblasts - enzymology | Microcephaly - genetics | Humans | Child, Preschool | Fetal Growth Retardation - genetics | Infant | Male | Dyskeratosis Congenita - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Telomere-Binding Proteins - genetics | Microcephaly - pathology | Female | Telomerase - metabolism | Dyskeratosis Congenita - metabolism | Telomere - metabolism | Fibroblasts - metabolism | Intellectual Disability - pathology | Microcephaly - metabolism | Fetal Growth Retardation - metabolism | Fibroblasts - pathology | Sequence Analysis, DNA | Fetal Growth Retardation - pathology | DNA - genetics | Phenotype | Telomere - pathology | DNA Repair | Dyskeratosis Congenita - pathology | Care and treatment | Genetic disorders | Mitomycin | RNA | Immunodeficiency | Radiation | Telomerase | Bone marrow | Mutation | Chromosomes | Rodents | Stem cells
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4. Full Text Diagnosis of Fanconi anemia in patients with bone marrow failure
by Pinto, Fernando O and Leblanc, Thierry and Chamousset, Delphine and Le Roux, Gwenaelle and Brethon, Benoit and Cassinat, Bruno and Larghero, Jerome and de Villartay, Jean-Pierre and Stoppa-Lyonnet, Dominique and Baruchel, Andre and Socie, Gerard and Gluckman, Eliane and Soulier, Jean
Haematologica, ISSN 0390-6078, 04/2009, Volume 94, Issue 4, pp. 487 - 495
1 Team "Genome Rearrangement and Cancer", APHP Hematology Laboratory, Hôpital Saint-Louis, Paris; INSERM U728 and U944, Hôpital Saint-Louis, Paris; and... 
Fibroblasts | Inherited aplastic anemia/bone marrow failure | Fanconi anemia | Somatic mosaicism | inherited aplastic anemia/bone marrow failure | NATURAL GENE-THERAPY | NETWORK | CELL TRANSPLANTATION | CANCER | DIEPOXYBUTANE SENSITIVITY | fibroblasts | somatic mosaicism | REVERSE MOSAICISM | HEMATOLOGY | APLASTIC-ANEMIA | MOLECULAR-BASIS | REGISTRY | Bone Marrow Diseases - diagnosis | Fanconi Anemia - complications | Humans | Middle Aged | Child, Preschool | Infant | Male | Mitomycin - pharmacology | Young Adult | Diagnostic Techniques and Procedures | Fanconi Anemia - diagnosis | Lymphocytes | Adolescent | Adult | Female | Cytogenetic Analysis | Child | Cohort Studies | Index Medicus | Fanconi anemia, inherited aplastic anemia | Original | bone marrow failure, fibroblasts, somatic mosaicism
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5. Full Text Creatine kinase pathway inhibition alters GSK3 and WNT signaling in EVI1-positive AML
by Benajiba, Lina and Alexe, Gabriela and Su, Angela and Raffoux, Emmanuel and Soulier, Jean and Hemann, Michael T and Hermine, Olivier and Itzykson, Raphael and Stegmaier, Kimberly and Puissant, Alexandre
Leukemia, ISSN 0887-6924, 03/2019, Volume 33, Issue 3, pp. 800 - 804
TARGET | REGULATOR | ONCOLOGY | MEK/ERK | LEUKEMIA | HEMATOLOGY | AKT/MTOR | ARSENIC TRIOXIDE | MDS1 and EVI1 Complex Locus Protein - metabolism | Animals | Humans | Leukemia, Myeloid, Acute - metabolism | Creatine Kinase - metabolism | Wnt Signaling Pathway - physiology | Mice | Glycogen Synthase Kinase 3 - metabolism | Wnt Proteins - metabolism | Research | Gene mutations | Cell differentiation | Creatine kinase | Wnt protein | Creatine
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6. Full Text The TLX1 oncogene drives aneuploidy in T cell transformation
by Keersmaecker, Kim and Real, Peo and Gatta, G.D and Palomero, Teresa and Sulis, M.L and Tosello, Valeria and Vlierberghe, Pieter and Barnes, Kelly and Castillo, Mireia and Sole, Xavier and Hadler, Michael and Lenz, Jack and Aplan, Peter and Kelliher, Michelle and Kee, Barbara and Pandolfi, P.P and Kappes, Dietmar and Gounari, Fotini and Petrie, Howard and Meulen, Joni and Speleman, Franki and Paietta, Elisabeth and Racevskis, Janis and Wiernik, Peter and Rowe, Jacob and Soulier, Jean and Avran, David and Cavé, Hélène and Dastugue, Nicole and Raimondi, Susana and Meijerink, Jules and Cordon-Cardo, Carlos and Califano, Anea and Ferrando, Adolfo
Nature Medicine, ISSN 1078-8956, 11/2010, Volume 16, Issue 11, pp. 1321 - 1327
textabstractThe TLX1 oncogene (encoding the transcription factor T cell leukemia homeobox protein-1) has a major role in the pathogenesis of T cell acute... 
SURVIVAL | MEDICINE, RESEARCH & EXPERIMENTAL | NOTCH1 | BCL11B | BIOCHEMISTRY & MOLECULAR BIOLOGY | HOX11 | CELL BIOLOGY | LYMPHOMAGENESIS | ACUTE LYMPHOBLASTIC-LEUKEMIA | GENE-EXPRESSION | MUTATIONS | TRANSGENIC MICE | LYMPHOCYTES | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - pathology | Homeodomain Proteins - metabolism | Molecular Sequence Data | Aneuploidy | Gene Expression Profiling | Cell Transformation, Neoplastic - genetics | DNA Mutational Analysis | Base Sequence | Gene Deletion | Tumor Suppressor Proteins - genetics | Thymus Gland - pathology | Spectral Karyotyping | Thymus Gland - growth & development | T-Lymphocytes - pathology | Proto-Oncogene Proteins - metabolism | Organ Size | Repressor Proteins - genetics | Mice, Transgenic | Proto-Oncogene Proteins - genetics | Gene Expression Regulation, Leukemic | Homeodomain Proteins - genetics | Animals | Trisomy - genetics | Comparative Genomic Hybridization | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Chromosome Aberrations | Mice | Oncology | Genetics | Cellular biology | Transgenic animals | Leukemia
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7. Full Text Clinical and Molecular Characteristics of Squamous Cell Carcinomas From Fanconi Anemia Patients
by van Zeeburg, Hester J. T and Snijders, Peter J. F and Wu, Thijs and Gluckman, Eliane and Soulier, Jean and Surralles, Jordi and Castella, Maria and van der Wal, Jacqueline E and Wennerberg, Johan and Califano, Joseph and Velleuer, Eunike and Dietrich, Ralf and Ebell, Wolfram and Bloemena, Elisabeth and Joenje, Hans and Leemans, C. Rene and Brakenhoff, Ruud H and Öron-, näs- och halssjukdomar, Lund and Lund University and Otorhinolaryngology (Lund) and Lunds universitet
JOURNAL OF THE NATIONAL CANCER INSTITUTE, ISSN 0027-8874, 11/2008, Volume 100, Issue 22, pp. 1649 - 1653
Fanconi anemia is a recessively inherited disease that is characterized by congenital abnormalities, bone marrow failure, and a predisposition to develop... 
HEAD | WOMEN | RISK | MODEL | HUMAN-PAPILLOMAVIRUS DNA | CANCER | UMCG Approved | ONCOLOGY | Esophageal Neoplasms - etiology | Immunohistochemistry | Genital Neoplasms, Male - etiology | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - pathology | Carcinoma, Squamous Cell - virology | Humans | Middle Aged | DNA, Viral - isolation & purification | Male | Loss of Heterozygosity | Tumor Suppressor Protein p53 - genetics | Genes, p53 | Polymerase Chain Reaction | Adult | Fanconi Anemia - pathology | Female | Fanconi Anemia - genetics | Fanconi Anemia - complications | Papillomavirus Infections - complications | Europe | Genital Neoplasms, Female - etiology | Papillomaviridae - isolation & purification | Reverse Transcriptase Polymerase Chain Reaction | Genes, p16 | Tumor Virus Infections - complications | Carcinoma, Squamous Cell - etiology | Sample Size | Head and Neck Neoplasms - etiology | Aged | Anus Neoplasms - etiology | Mutation | Complications and side effects | Squamous cell carcinoma | Care and treatment | Genetic aspects | Risk factors | Fanconi's anemia | Oncology | Human papillomavirus | Genetic disorders | Molecular biology | Skin cancer | Index Medicus | Brief Communications | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
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8. Full Text MLL rearrangements impact outcome in HOXA-deregulated T-lineage acute lymphoblastic leukemia: A Children's Oncology Group Study
by Matlawska-Wasowska, K and Kang, H and Devidas, M and Wen, J and Harvey, R.C and Nickl, C.K and Ness, S.A and Rusch, M and Li, Y and Onozawa, M and Martinez, C and Wood, B.L and Asselin, B.L and Chen, I.-M and Roberts, K.G and Baruchel, A and Soulier, J and Dombret, H and Zhang, J and Larson, R.S and Raetz, E.A and Carroll, W.L and Winick, N.J and Aplan, P.D and Loh, M.L and Mullighan, C.G and Hunger, S.P and Heerema, N.A and Carroll, A.J and Dunsmore, K.P and Winter, S.S
Leukemia, ISSN 0887-6924, 09/2016, Volume 30, Issue 9, pp. 1909 - 1912
RISK | ONCOLOGY | HEMATOLOGY | CELL | STAGE | Histone-Lysine N-Methyltransferase - genetics | Prognosis | Humans | Child, Preschool | Male | Neoplasm Recurrence, Local - mortality | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - mortality | Homeodomain Proteins - genetics | Cell Lineage | Disease-Free Survival | Drug Resistance, Neoplasm - genetics | Myeloid-Lymphoid Leukemia Protein - genetics | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Gene Rearrangement | Adolescent | Adult | Female | Neoplasm Recurrence, Local - genetics | Retrospective Studies | Child | Care and treatment | Transcription factors | Leukemia | Development and progression | Genetic aspects | Properties | Gene expression | Health aspects
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9. Full Text Thrombolytic Therapy Compared with Mechanical Recanalization in Non-acute Peripheral Arterial Occlusions: A Randomized Trial
by Meyerovitz, Michael F and Didier, Dominique and Vogel, Jean-Joseph and Soulier-Parmeggiani, Lucilla and Bounameaux, Henri
Journal of Vascular and Interventional Radiology, ISSN 1051-0443, 1995, Volume 6, Issue 5, pp. 775 - 781
To evaluate whether thrombolytic therapy followed by angioplasty has any added benefit compared with angioplasty alone for the treatment of chronic peripheral... 
Tissue-type plasminogen activator, 92.1274, 98.1274 | Thrombolysis, 92.1274, 98.1274 | Arteries, stenosis or obstruction, 92.7214, 98.7214 | Arteries, transluminal angioplasty, 92.1282, 98.1282 | Follow-Up Studies | Peripheral Vascular Diseases - drug therapy | Peripheral Vascular Diseases - therapy | Humans | Male | Tissue Plasminogen Activator - therapeutic use | Life Tables | Arterial Occlusive Diseases - drug therapy | Thrombolytic Therapy | Aged, 80 and over | Adult | Female | Aged | Angioplasty, Balloon | Arterial Occlusive Diseases - therapy
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10. Full Text BibRank
: a language-based model for co-ranking entities in bibliographic networks
by Soulier, Laure and Ben Jabeur, Lamjed and Tamine, Lynda and Bahsoun, Wahiba
Proceedings of the 12th ACM/IEEE-CS joint conference on digital libraries, ISSN 1552-5996, 06/2012, pp. 61 - 70
Bibliographic documents are basically associated with many entities including authors, venues, affiliations, etc. While bibliographic search engines addressed... 
bibliographic network | Homogeneous Information Network | Heterogeneous Information Network | Bibliographic Network | Multi-entity Ranking
Conference Proceeding
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