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1. Full Text Signaling lymphocytic activation molecules Slam and cancers: Friends or foes?
by Fouquet, Gregory and Marcq, Ingrid and Debuysscher, Véronique and Bayry, Jagadeesh and Singh, Amrathlal Rabbind and Bengrine, Abderrahmane and Nguyen-Khac, Eric and Naassila, Mickael and Bouhlal, Hicham
Oncotarget, ISSN 1949-2553, 2018, Volume 9, Issue 22, pp. 16248 - 16262
Signaling Lymphocytic Activation Molecules (SLAM) family receptors are initially described in immune cells. These receptors recruit both activating and... 
SLAMF molecules | Therapy | Pathophysiology | Cancer
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2. Full Text Regulation of Streptomyces chitinases by two-component signal transduction systems and their post translational modifications: A review
by Rabbind Singh, Amrathlal
Journal of Pure and Applied Microbiology, ISSN 0973-7510, 09/2018, Volume 12, Issue 3, pp. 1417 - 1433
This article reviews the developments related to Streptomyces chitinases regulation and their post translational modifications. Chitinases are enzymes which... 
Chitinase | Streptomyces | Glycosylation | Two-component systems | Proteolytic cleavage | Post-translational modification | Enzymes | Nutrition | Genomics | Physiological aspects | Bacteria | Cellular signal transduction | Chitin | Genomes | Requirements
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3. Full Text Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
by Delcourt, Marion and Riant, Florence and Mancini, Josette and Milh, Mathieu and Navarro, Vincent and Roze, Emmanuel and Humbertclaude, Véronique and Korff, Christian and Des Portes, Vincent and Szepetowski, Pierre and Doummar, Diane and Echenne, Bernard and Quintin, Samuel and Leboucq, Nicolas and Singh Amrathlal, Rabbind and Rochette, Jacques and Roubertie, Agathe
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2015, Volume 86, Issue 7, pp. 782 - 785
BackgroundHeterozygous dominant mutations of PRRT2 have been associated with various types of paroxysmal neurological manifestations, including benign familial... 
SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | Age Factors | Membrane Proteins - genetics | Humans | Brain Diseases - genetics | Child, Preschool | Genes - genetics | Infant | Male | Multiplex Polymerase Chain Reaction | Mutation - genetics | Nerve Tissue Proteins - genetics | Young Adult | Phenotype | Gene Deletion | Adolescent | Alleles | Atrophy - genetics | Adult | Female | Learning Disorders - genetics | Ataxia - genetics | Chorea - genetics | Child | Chromosomes, Human, Pair 16 - genetics | Polymerase chain reaction | Usage | Nervous system diseases | Gene mutations | Genetic aspects | Research | Movement disorders | Risk factors | Life Sciences | Human health and pathology | Surgery | Psychiatrics and mental health
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4. Full Text Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
by Morin, Gilles and Bruechle, Nadina Ortiz and Singh, Amrathlal Rabbind and Knopp, Cordula and Jedraszak, Guillaume and Elbracht, Miriam and Brémond‐Gignac, Dominique and Hartmann, Kathi and Sevestre, Henri and Deutz, Peter and Hérent, Didier and Nürnberg, Peter and Roméo, Bernard and Konrad, Kerstin and Mathieu‐Dramard, Michèle and Oldenburg, Johannes and Bourges‐Petit, Elisabeth and Shen, Yuequan and Zerres, Klaus and Ouadid‐Ahidouch, Halima and Rochette, Jacques
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1221 - 1232
ABSTRACT Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation
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5. Full Text Spoligotyping, phenotypic and genotypic characterization of katG, rpoB gene of M. tuberculosis isolates from Sahariya tribe of Madhya Pradesh India
by Gupta, Rahul and Amrathlal, Rabbind Singh and Prakash, Ravi and Jain, Sanjay and Tiwari, Pramod K
Journal of Infection and Public Health, ISSN 1876-0341, 05/2019, Volume 12, Issue 3, pp. 395 - 402
Sahariya, a primitive tribal group, residing in Gwalior and Sheopur districts of Madhya Pradesh, India, show high incidence and prevalence of pulmonary... 
Sahariya tribe | Spoligotyping | Isoniazid resistance | Multi-drug resistance | M. tuberculosis | INFECTIOUS DISEASES | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | RESISTANT MYCOBACTERIUM-TUBERCULOSIS | MOLECULAR EPIDEMIOLOGY | MUTATIONS | Tuberculosis, Pulmonary - microbiology | Prevalence | Catalase - genetics | Humans | Middle Aged | Bacterial Proteins - genetics | India - epidemiology | Male | DNA-Directed RNA Polymerases - genetics | Tuberculosis, Multidrug-Resistant - epidemiology | Mycobacterium tuberculosis - isolation & purification | Young Adult | Tuberculosis, Multidrug-Resistant - microbiology | Adolescent | Polymerase Chain Reaction | Adult | Female | Tuberculosis, Pulmonary - epidemiology | Drug Resistance, Multiple, Bacterial - genetics | Child | Mycobacterium tuberculosis - genetics
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6. Full Text Identification of the proteoforms of surface localized Rod A of Aspergillus flavus and determination of the mechanism of proteoform generation
by Shait Mohammed, Mohammed Razeeth and Balamurugan, Muthukumar and Amrathlal, Rabbind Singh and Kannan, Priyadharshini and Jayapal, Jeya Maheshwari and Namperumalsamy, Venkatesh Prajna and Prajna, Lalitha and Kuppamuthu, Dharmalingam
Journal of Proteomics, ISSN 1874-3919, 02/2019, Volume 193, pp. 62 - 70
Fungal keratitis is a serious, potentially sight-threatening corneal infection that is more prevalent in the tropical parts of the world including India, and... 
Aspergillus flavus | Hydrophobins | Mycotic keratitis | Conidial surface protein | Mass spectrometry | Proteoforms | BIOCHEMICAL RESEARCH METHODS | FUMIGATUS
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7. Full Text Factors involved in CLL pathogenesis and cell survival are disrupted by differentiation of CLL B-cells into antibody-secreting cells
by Ghamlouch, Hussein and Darwiche, Walaa and Hodroge, Ahmed and Ouled-Haddou, Hakim and Dupont, Sébastien and Singh, Amrathlal Rabbind and Guignant, Caroline and Trudel, Stéphanie and Royer, Bruno and Gubler, Brigitte and Marolleau, Jean-Pierre
Oncotarget, ISSN 1949-2553, 2015, Volume 6, Issue 21, pp. 18484 - 18503
Recent research has shown that chronic lymphocytic leukemia (CLL) B-cells display a strong tendency to differentiate into antibody-secreting cells (ASCs) and... 
B-cell differentiation | Chronic lymphocytic leukemia | ROR1 | LEF1 | Apoptosis | Cell Cycle - genetics | Antibody-Producing Cells - drug effects | Tetradecanoylphorbol Acetate - pharmacology | Gene Expression - drug effects | Apoptosis - drug effects | Gene Expression - genetics | Inhibitor of Apoptosis Proteins - genetics | Humans | Immunoglobulin Isotypes - metabolism | Lymphoid Enhancer-Binding Factor 1 - genetics | Cell Survival - genetics | Apoptosis - genetics | Immunoblotting | Leukemia, Lymphocytic, Chronic, B-Cell - genetics | Cell Differentiation - genetics | Cell Cycle - immunology | Gene Expression - immunology | Inhibitor of Apoptosis Proteins - metabolism | Cell Culture Techniques | Leukemia, Lymphocytic, Chronic, B-Cell - immunology | B-Lymphocytes - metabolism | Antibody-Producing Cells - metabolism | Cell Survival - drug effects | Enzyme-Linked Immunosorbent Assay | Cells, Cultured | Lymphoid Enhancer-Binding Factor 1 - immunology | Immunophenotyping | Cell Survival - immunology | Reverse Transcriptase Polymerase Chain Reaction | Lymphoid Enhancer-Binding Factor 1 - metabolism | B-Lymphocytes - drug effects | Cell Differentiation - immunology | Antibody-Producing Cells - immunology | Apoptosis - immunology | B-Lymphocytes - immunology | CD40 Ligand - pharmacology | Cell Differentiation - drug effects | Leukemia, Lymphocytic, Chronic, B-Cell - metabolism | Immunoglobulin Isotypes - immunology | Inhibitor of Apoptosis Proteins - immunology | Cell Cycle - drug effects | Oligodeoxyribonucleotides - pharmacology | Cytokines - pharmacology
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8. Full Text Severe phenotypic spectrum of biallelic mutations inPRRT2gene
by Delcourt, Marion and Riant, Florence and Mancini, Josette and Milh, Mathieu and Navarro, Vincent and Roze, Emmanuel and Humbertclaude, Véronique and Korff, Christian and Des Portes, Vincent and Szepetowski, Pierre and Doummar, Diane and Echenne, Bernard and Quintin, Samuel and Leboucq, Nicolas and Singh Amrathlal, Rabbind and Rochette, Jacques and Roubertie, Agathe
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2015, Volume 86, Issue 7, pp. 782 - 785
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9. Full Text Stormorken syndrome or York platelet syndrome: A clinician's dilemma
by Singh, Amrathlal Rabbind and Morin, Gilles and Rochette, Jacques
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 03/2015, Volume 2, Issue C, pp. 80 - 80
York platelet syndrome | Miosis | Tubular aggregate myopathy | Stormorken syndrome
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10. Full Text Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies
by Cézard, Christine and Rabbind Singh, Amrathlal and Le Gac, Gérald and Gourlaouen, Isabelle and Ferec, Claude and Rochette, Jacques
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 01/2014, Volume 52, Issue 1, pp. 27 - 34
Most adults affected with hereditary hemochromatosis are homozygous for a single point mutation of HFE (p.Cys282Tyr). Apart from the compound heterozygous... 
Molecular dynamics | Compound heterozygosity | Hemochromatosis | HFER226G variant | Disulfide bridge | variant | HFE | PROTEIN | IRON-OVERLOAD | FREE-ENERGIES | HEREDITARY HEMOCHROMATOSIS | TRANSFERRIN RECEPTOR | GENE | C282Y | MUTATIONS | HEMATOLOGY | BINDING | H63D | Hemochromatosis Protein | Humans | Middle Aged | Male | Hemochromatosis - metabolism | Antigens, CD - genetics | Hemochromatosis - pathology | Antigens, CD - metabolism | Histocompatibility Antigens Class I - metabolism | Thermodynamics | Disulfides - chemistry | beta 2-Microglobulin - metabolism | Adult | Membrane Proteins - metabolism | Receptors, Transferrin - genetics | Hemochromatosis - genetics | Protein Structure, Tertiary | Severity of Illness Index | Gene Expression | Protein Structure, Secondary | Membrane Proteins - genetics | Histocompatibility Antigens Class I - genetics | Histocompatibility Antigens Class I - chemistry | Receptors, Transferrin - metabolism | Molecular Dynamics Simulation | Homozygote | Membrane Proteins - chemistry | Alleles | Hydrophobic and Hydrophilic Interactions | Protein Binding | Heterozygote | Mutation | beta 2-Microglobulin - genetics | Chemical properties | Gene mutations | Ferritin
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11. Full Text Dataset for the spore surface proteome and hydrophobin A/RodA proteoforms of A.flavus
by Shait Mohammed, Mohammed Razeeth and Balamurgan, Muthu Kumar and Amrathlal, Rabbind Singh and Kannan, Priyadharshini and Jayapal, Jeya Maheshwari and Namperumalsamy, Venkatesh Prajna and Prajna, Lalitha and Dharmalingam, Kuppamuthu
Data in Brief, ISSN 2352-3409, 04/2019, Volume 23, p. 103817
Fungal keratitis is a major sight-threatening corneal infection: and mycotic keratitis is more common in tropical parts of the world including India. and are... 
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12. Identification of the proteoforms of surface localized Rod A of Aspergillus flavus and determination of the mechanism of proteoform generation
by Shait Mohammed, Mohammed Razeeth and Balamurugan, Muthukumar and Amrathlal, Rabbind Singh and Kannan, Priyadharshini and Jayapal, Jeya Maheshwari and Namperumalsamy, Venkatesh Prajna and Prajna, Lalitha and Kuppamuthu, Dharmalingam
Journal of proteomics, 02/2019, Volume 193, p. 62
Fungal keratitis is a serious, potentially sight-threatening corneal infection that is more prevalent in the tropical parts of the world including India, and... 
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13. Full Text Identification of SLAMF3 (CD229) as an inhibitor of hepatocellular carcinoma cell proliferation and tumour progression
by Marcq, Ingrid and Nyga, Rémy and Cartier, Flora and Amrathlal, Rabbind Singh and Ossart, Christéle and Ouled-Haddou, Hakim and Ghamlouch, Hussein and Galmiche, Antoine and Chatelain, Denis and Lamotte, Luciane and Debuysscher, Véronique and Fuentes, Vincent and Nguyen-Khac, Eric and Regimbeau, Jean-Marc and Marolleau, Jean-Pierre and Latour, Sylvain and Bouhlal, Hicham
PLoS ONE, ISSN 1932-6203, 12/2013, Volume 8, Issue 12, p. e82918
Although hepatocellular carcinoma (HCC) is one of the most common malignancies and constitutes the third leading cause of cancer-related deaths, the underlying... 
SIGNAL-TRANSDUCTION | ACTIVATION | HEPATITIS-B-VIRUS | SAP | MULTIDISCIPLINARY SCIENCES | LIVER | RECEPTOR | TUBEROUS SCLEROSIS | PROTEINS | BCL-2 FAMILY | EXPRESSION | Neoplasm Transplantation | TOR Serine-Threonine Kinases - metabolism | Humans | Gene Expression Regulation, Neoplastic | Male | Antigens, CD - genetics | Antigens, CD - metabolism | MAP Kinase Kinase 4 - metabolism | TOR Serine-Threonine Kinases - genetics | Carcinoma, Hepatocellular - genetics | Injections, Subcutaneous | Mitogen-Activated Protein Kinase 1 - genetics | Liver Neoplasms - pathology | Liver Neoplasms - genetics | Mitogen-Activated Protein Kinase 3 - genetics | Signal Transduction | Signaling Lymphocytic Activation Molecule Family | Disease Progression | Animals | Mitogen-Activated Protein Kinase 3 - metabolism | Mice, Nude | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Cell Line, Tumor | MAP Kinase Kinase 4 - genetics | Mice | Carcinoma, Hepatocellular - metabolism | Mitogen-Activated Protein Kinase 1 - metabolism | Development and progression | B cells | Hepatoma | Health aspects | Analysis | TOR protein | Cell proliferation | Biotechnology | Phosphorylation | Pathogenesis | Hepatocellular carcinoma | Insulin-like growth factors | Kinases | Tissues | Carcinogenesis | Proteins | Liver cancer | Hepatitis | Carcinogens | Cell activation | Cell growth | Restoration | Hepatology | Xenografts | Gangrene | Inhibition | Vascular endothelial growth factor | Dendritic cells | Extracellular signal-regulated kinase | MAP kinase | JNK protein | Signaling | Molecular modelling | Hepatocytes | Medical prognosis | Cell lines | Ligands | Cell migration | Tumors | Apoptosis
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14. Full Text A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population
by Rabbind Singh, Amrathlal and Lacan, Philippe and Cadet, Estelle and Bignet, Patricia and Dumesnil, Cécile and Vannier, Jean-Pierre and Joly, Philippe and Rochette, Jacques
Hemoglobin, ISSN 0363-0269, 03/2016, Volume 40, Issue 2, pp. 108 - 112
We have identified a deletion of 125 bp (α-α Δ125 ) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of... 
deletion | α1-Globin gene | hemoglobin (Hb) | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | THALASSEMIA | HEMATOLOGY | alpha 1-Globin gene | LOCUS | CONCERTED EVOLUTION | Genetics, Population | Sequence Deletion | Humans | Middle Aged | Child, Preschool | Male | Young Adult | DNA Mutational Analysis | alpha-Globins - genetics | Base Sequence | Adolescent | Polymerase Chain Reaction | Aged, 80 and over | Adult | Female | Aged | Algeria | Child | Life Sciences
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15. Full Text RB/PLK1-dependent induced pathway by SLAMF3 expression inhibits mitosis and control hepatocarcinoma cell proliferation
by Bouhlal, Hicham and Ouled-Haddou, Hakim and Debuysscher, Véronique and Singh, Amrathlal Rabbind and Ossart, Christèle and Reignier, Aline and Hocini, Hakim and Fouquet, Gregory and Al Baghami, Mohammed and Eugenio, Mélanie Simoes and Nguyen-Khac, Eric and Regimbeau, Jean-Marc and Marcq, Ingrid
Oncotarget, ISSN 1949-2553, 2016, Volume 7, Issue 9, pp. 9832 - 9843
Polo-like kinase PLK1 is a cell cycle protein that plays multiple roles in promoting cell cycle progression. Among the many roles, the most prominent role of... 
HCC | Polo-like kinase 1 (PLK1) | Mitosis | SLAMF3 | Retinoblastoma factor RB | Proto-Oncogene Proteins - metabolism | Cell Proliferation - genetics | Humans | Middle Aged | Retinoblastoma Protein - metabolism | Cell Cycle Proteins - metabolism | Male | Mitosis - genetics | Carcinoma, Hepatocellular - pathology | Aged, 80 and over | Cell Line, Tumor | Female | Liver Neoplasms - pathology | Aged | Protein-Serine-Threonine Kinases - metabolism | Signaling Lymphocytic Activation Molecule Family - metabolism
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16. Full Text A New Intergenic α -Globin Deletion ( α – α Δ125 ) Found in a Kabyle Population
by Rabbind Singh, Amrathlal and Lacan, Philippe and Cadet, Estelle and Bignet, Patricia and Dumesnil, Cécile and Vannier, Jean-Pierre and Joly, Philippe and Rochette, Jacques
Hemoglobin, ISSN 0363-0269, 12/2015, Volume 40, Issue 2, pp. 108 - 112
Life Sciences | Human health and pathology
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17. Full Text Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
: HUMAN MUTATION
by Morin, Gilles and Bruechle, Nadina Ortiz and Singh, Amrathlal Rabbind and Knopp, Cordula and Jedraszak, Guillaume and Elbracht, Miriam and Brémond-Gignac, Dominique and Hartmann, Kathi and Sevestre, Henri and Deutz, Peter and Hérent, Didier and Nürnberg, Peter and Roméo, Bernard and Konrad, Kerstin and Mathieu-Dramard, Michèle and Oldenburg, Johannes and Bourges-Petit, Elisabeth and Shen, Yuequan and Zerres, Klaus and Ouadid-Ahidouch, Halima and Rochette, Jacques
Human Mutation, ISSN 1059-7794, 12/2014, Volume 35, Issue 12, pp. 1542 - 1542
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18. Full Text Hepatocyte SLAMF3 reduced specifically the multi-drugs resistance protein MRP-1 and increases HCC cells sensitization to anti-cancer drugs
by Fouquet, Grégory and Debuysscher, Véronique and Ouled-Haddou, Hakim and Eugenio, Mélanie Simoes and Demey, Baptiste and Singh, Amrathlal Rabbind and Ossart, Christèle and Al Bagami, Mohammed and Regimbeau, Jean-Marc and Nguyen-Khac, Eric and Naassila, Mickael and Marcq, Ingrid and Bouhlal, Hicham
Oncotarget, 05/2016, Volume 7, Issue 22, pp. 32493 - 32503
Multidrug resistance MDR proteins (MRPs) are members of the C family of a group of proteins named ATP binding cassette (ABC) transporters. MRPs can transport... 
HCC | Drugs sensitization | MRP-1 | SLAMF3 | Multidrug resistance | multidrug resistance | PUMPS | TRANSPORTERS | SLC22A1 | MECHANISMS | SORAFENIB | CANCER | drugs sensitization | CELL BIOLOGY | TARGETED THERAPIES | EFFLUX | GENE-EXPRESSION | HUMAN HEPATOCELLULAR-CARCINOMA
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19. Full Text Hepatocyte SLAMF3 reduced specifically the multidrugs resistance protein MRP-1 and increases HCC cells sensitization to anti-cancer drugs
by Fouquet, Grégory and Debuysscher, Véronique and Ouled-Haddou, Hakim and Eugenio, Mélanie Simoes and Demey, Baptiste and Singh, Amrathlal Rabbind and Ossart, Christèle and Al Bagami, Mohammed and Regimbeau, Jean-Marc and Nguyen-Khac, Eric and Naassila, Mickael and Marcq, Ingrid and Bouhlal, Hicham
Oncotarget, ISSN 1949-2553, 05/2016, Volume 7, Issue 22, p. 32493
Multidrug resistance MDR proteins (MRPs) are members of the C family of a group of proteins named ATP binding cassette (ABC) transporters. MRPs can transport... 
Liver Neoplasms - genetics | Humans | Middle Aged | Liver Neoplasms - drug therapy | Drug Resistance, Neoplasm | Male | Antineoplastic Agents - therapeutic use | Hepatocytes - metabolism | Carcinoma, Hepatocellular - drug therapy | Transfection | Carcinoma, Hepatocellular - genetics | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Aged, 80 and over | Female | Liver Neoplasms - pathology | Aged | Antineoplastic Agents - pharmacology | Multidrug Resistance-Associated Proteins - metabolism | Signaling Lymphocytic Activation Molecule Family - genetics | Carcinoma, Hepatocellular - metabolism | Signaling Lymphocytic Activation Molecule Family - metabolism
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20. Full Text Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
by Morin, Gilles and Bruechle, Nadina Ortiz and Singh, Amrathlal Rabbind and Knopp, Cordula and Jedraszak, Guillaume and Elbracht, Miriam and Brémond‐Gignac, Dominique and Hartmann, Kathi and Sevestre, Henri and Deutz, Peter and Hérent, Didier and Nürnberg, Peter and Roméo, Bernard and Konrad, Kerstin and Mathieu‐Dramard, Michèle and Oldenburg, Johannes and Bourges‐Petit, Elisabeth and Shen, Yuequan and Zerres, Klaus and Ouadid‐Ahidouch, Halima and Rochette, Jacques
Human Mutation, ISSN 1059-7794, 12/2014, Volume 35, Issue 12, pp. 1542 - 1542
GENETICS & HEREDITY
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