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1. Full Text Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome
by Colobran, Roger and Álvarez de la Campa, Elena and Soler-Palacín, Pere and Martín-Nalda, Andrea and Pujol-Borrell, Ricardo and de la Cruz, Xavier and Martínez-Gallo, Mónica
Clinical Immunology, ISSN 1521-6616, 2016, Volume 163, pp. 60 - 65
Abstract Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic autoimmune disease characterized by early-onset... 
Allergy and Immunology | Autoimmunity | IPEX | Mutation | FOXP3 | Primary immunodeficiency | X-LINKED SYNDROME | ENTEROPATHY | STABILITY | IMMUNOLOGY | IMMUNE DYSREGULATION | DIMER | SEQUENCE | DISEASE | REGULATORY T-CELLS | POLYENDOCRINOPATHY | IMMUNODYSREGULATION | Eczema - genetics | Eczema - immunology | Immune System Diseases - genetics | Humans | Diabetes Mellitus, Type 1 - congenital | Infant | Male | Meningoencephalitis - immunology | Thrombocytopenia - genetics | Immunoglobulin E - immunology | Diarrhea - immunology | Eosinophilia - genetics | Fatal Outcome | Hepatomegaly - immunology | Genetic Diseases, X-Linked - genetics | Diabetes Mellitus, Type 1 - immunology | Dimerization | Hemorrhage - genetics | Sepsis - immunology | Splenomegaly - genetics | Growth Disorders - immunology | Hemorrhage - immunology | Splenomegaly - immunology | Thrombocytopenia - immunology | Immune System Diseases - immunology | Leukocytosis - immunology | Meningoencephalitis - genetics | Diabetes Mellitus, Type 1 - genetics | Models, Molecular | Klebsiella Infections - genetics | Hepatomegaly - genetics | Forkhead Transcription Factors - genetics | Sepsis - genetics | Lung Diseases - immunology | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Thymus Gland - abnormalities | Lung Diseases - genetics | Eosinophilia - immunology | Diarrhea - genetics | Klebsiella Infections - immunology | Phenylalanine - genetics | Hydrophobic and Hydrophilic Interactions | Growth Disorders - genetics | Leukocytosis - genetics | Index Medicus
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2. Full Text Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX and CD44 in a Multiethnic Study
by Lessard, Christopher J and Adrianto, Indra and Kelly, Jennifer A and Kaufman, Kenneth M and Grundahl, Kiely M and Adler, Adam and Williams, Adrienne H and Gallant, Caroline J and Anaya, Juan-Manuel and Bae, Sang-Cheol and Boackle, Susan A and Brown, Elizabeth E and Chang, Deh-Ming and Criswell, Lindsey A and Edberg, Jeffrey C and Freedman, Barry I and Gregersen, Peter K and Gilkeson, Gary S and Jacob, Chaim O and James, Judith A and Kamen, Diane L and Kimberly, Robert P and Martin, Javier and Merrill, Joan T and Niewold, Timothy B and Park, So-Yeon and Petri, Michelle A and Pons-Estel, Bernardo A and Ramsey-Goldman, Rosalind and Reveille, John D and Song, Yeong Wook and Stevens, Anne M and Tsao, Betty P and Vila, Luis M and Vyse, Timothy J and Yu, Chack-Yung and Guthridge, Joel M and Bruner, Gail R and Langefeld, Carl D and Montgomery, Courtney and Harley, John B and Scofield, R. Hal and Gaffney, Patrick M and Moser, Kathy L and BIOLUPUS Network and GENLES Network and Marta E. Alarcón-Riquelme on behalf of the BIOLUPUS and GENLES Networks and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Genomik and Uppsala universitet
The American Journal of Human Genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 83 - 91
Systemic lupus erythematosus (SLE) is considered to be the prototypic autoimmune disease, with a complex genetic architecture influenced by environmental... 
FIBROBLAST-LIKE SYNOVIOCYTES | ADHESION | GENETICS & HEREDITY | THROMBOCYTOPENIA | POPULATIONS | ADMIXTURE | LINKAGE | ASSOCIATION | EXPRESSION | VARIANT | GENOME | Haplotypes | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Hispanic Americans - genetics | Humans | Asian Continental Ancestry Group - genetics | African Americans - genetics | Male | Chromosomes, Human, Pair 11 - genetics | Genetic Loci | Pyruvate Dehydrogenase Complex - genetics | American Native Continental Ancestry Group - genetics | Hyaluronan Receptors - genetics | Linkage Disequilibrium | Lupus Erythematosus, Systemic - ethnology | Lupus Erythematosus, Systemic - genetics | Female | Polymorphism, Single Nucleotide | Cohort Studies | Europeans | Systemic lupus erythematosus | CD4 lymphocytes | African Americans | Causes of | Genetic aspects | Research | Gene expression | Lupus | Genomics | Genetics | Genomes | Glycoproteins | Minority & ethnic groups | Meta-analysis | Index Medicus | Report | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
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3. Full Text ACTN1 Mutations Cause Congenital Macrothrombocytopenia
by Kunishima, Shinji and Okuno, Yusuke and Yoshida, Kenichi and Shiraishi, Yuichi and Sanada, Masashi and Muramatsu, Hideki and Chiba, Kenichi and Tanaka, Hiroko and Miyazaki, Koji and Sakai, Michio and Ohtake, Masatoshi and Kobayashi, Ryoji and Iguchi, Akihiro and Niimi, Gen and Otsu, Makoto and Takahashi, Yoshiyuki and Miyano, Satoru and Saito, Hidehiko and Kojima, Seiji and Ogawa, Seishi
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 431 - 438
Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and... 
GENE | GRAY PLATELET SYNDROME | DISEASE | ITGA2B | GENETICS & HEREDITY | BERNARD-SOULIER-SYNDROME | MEGAKARYOCYTES | THROMBOCYTOPENIA | NBEAL2 | ALPHA-ACTININ | Cricetinae | Genetic Predisposition to Disease | Humans | Asian Continental Ancestry Group - genetics | Cytoskeleton - genetics | Male | Thrombocytopenia - blood | Thrombocytopenia - metabolism | Thrombocytopenia - genetics | Exome - genetics | Animals | Blood Platelets - metabolism | Pedigree | Actinin - genetics | Cytoskeleton - metabolism | Female | Mice | Mutation | Megakaryocytes - metabolism | Sequence Analysis, DNA - methods | CHO Cells | Thrombocytopenia | Usage | Gene mutations | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis | Medical colleges | Crosslinked polymers | Genetic disorders | Analysis | Genomics | Genetic research | Muscle proteins | Ovarian cancer | Proteins | Blood platelets | Rodents | Cytoskeleton | Blood diseases | Cells | Index Medicus | Transfection | Fetuses | Megakaryocytes | Platelets | Bleeding | Report
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4. Full Text Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
by Niihori, Tetsuya and Ouchi-Uchiyama, Meri and Sasahara, Yoji and Kaneko, Takashi and Hashii, Yoshiko and Irie, Masahiro and Sato, Atsushi and Saito-Nanjo, Yuka and Funayama, Ryo and Nagashima, Takeshi and Inoue, Shin-ichi and Nakayama, Keiko and Ozono, Keiichi and Kure, Shigeo and Matsubara, Yoichi and Imaizumi, Masue and Aoki, Yoko
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 848 - 854
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and... 
POINT MUTATIONS | MYELOID-TRANSFORMING GENE | ZINC FINGERS | CONGENITAL THROMBOCYTOPENIA | PROTEIN | HOXA11 MUTATION | CELL SELF-RENEWAL | GENETICS & HEREDITY | INTEGRATION SITE 1 | EXPRESSION | BONE-MARROW FAILURE | Synostosis - metabolism | Transcription Factor AP-1 - genetics | Humans | Child, Preschool | Molecular Sequence Data | Ulna - abnormalities | Male | Mutation, Missense | Synostosis - genetics | Transcription Factor AP-1 - metabolism | Exome | Thrombocytopenia - genetics | Proto-Oncogenes - genetics | Base Sequence | Bone Marrow - metabolism | Female | Transcription, Genetic | Radius - metabolism | Child | Protein Structure, Tertiary | Amino Acid Sequence | Signal Transduction | Gene Expression Regulation | Thrombocytopenia - congenital | Models, Molecular | Hematopoiesis - genetics | Radius - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Thrombocytopenia - metabolism | Animals | Transforming Growth Factor beta - genetics | Ulna - metabolism | Bone Marrow - abnormalities | MDS1 and EVI1 Complex Locus Protein | Transforming Growth Factor beta - metabolism | Musculoskeletal diseases | Genetic disorders | Gene mutations | Causes of | Blood clotting disorders | Genetic aspects | Health aspects | Bone marrow | Genetics | Chromatin | Gene loci | Mutation | Binding sites | Index Medicus | Report
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5. Full Text Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
by Lemaire, Mathieu and Frémeaux-Bacchi, Véronique and Schaefer, Franz and Choi, Murim and Tang, Wai Ho and Quintrec, Moglie Le and Fakhouri, Fadi and Taque, Sophie and Nobili, François and Martinez, Frank and Ji, Weizhen and Overton, John D and Mane, Shrikant M and Nürnberg, Gudrun and Altmüller, Janine and Thiele, Holger and Morin, Denis and Deschenes, Georges and Baudouin, Véronique and Llanas, Brigitte and Collard, Laure and Majid, Mohammed A and Simkova, Eva and Nürnberg, Peter and Rioux-Leclerc, Nathalie and Moeckel, Gilbert W and Gubler, Marie Claire and Hwa, John and Loirat, Chantal and Lifton, Richard P
Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 531 - 536
Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS) features episodes of small-vessel thrombosis resulting in microangiopathic... 
PROTEIN-KINASE-C | ACTIVATION | HUMAN-PLATELETS | GENETICS & HEREDITY | MICROANGIOPATHY | VASCULAR ENDOTHELIAL-CELLS | DIACYLGLYCEROL KINASES | INHIBITOR | ASSOCIATION | EXPRESSION | EPSILON | Hemolytic-Uremic Syndrome - etiology | Renal Insufficiency, Chronic | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Acute Kidney Injury - genetics | Mutation - genetics | Diacylglycerol Kinase - genetics | Immunoenzyme Techniques | Thrombotic Microangiopathies - genetics | Hemolytic-Uremic Syndrome - pathology | Thrombocytopenia - genetics | Exome - genetics | Female | Atypical Hemolytic Uremic Syndrome | Child | Care and treatment | Gene mutations | Von Willebrand factor | Genetic aspects | Research | Health aspects | Hemolytic-uremic syndrome | Risk factors | Proteins | Studies | Confidence intervals | Pediatrics | Genealogy | Genetics | Amino acids | Genomes | Mutation | Age | Data bases | Siblings | Index Medicus | Life Sciences
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6. Full Text Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
by Noetzli, Leila and Lo, Richard W and Lee-Sherick, Alisa B and Callaghan, Michael and Noris, Patrizia and Savoia, Anna and Rajpurkar, Madhvi and Jones, Kenneth and Gowan, Katherine and Balduini, Carlo L and Pecci, Alessandro and Gnan, Chiara and De Rocco, Daniela and Doubek, Michael and Li, Ling and Lu, Lily and Leung, Richard and Landolt-Marticorena, Carolina and Hunger, Stephen and Heller, Paula and Gutierrez-Hartmann, Arthur and Xiayuan, Liang and Pluthero, Fred G and Rowley, Jesse W and Weyrich, Andrew S and Kahr, Walter H.A and Porter, Christopher C and Di Paola, Jorge
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 535 - 538
Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia(1,2). We identified... 
TEL ETV6 | PROTEIN | FUSION | HEMATOPOIESIS | TEL/ETV6 | MEGAKARYOCYTE DEVELOPMENT | TRANSCRIPTION | GENETICS & HEREDITY | FAMILIAL THROMBOCYTOPENIA | INDUCTION | BINDING | Genetic Predisposition to Disease | Genetic Association Studies | Proto-Oncogene Proteins c-ets - genetics | Humans | Child, Preschool | Repressor Proteins - genetics | Male | Mutation, Missense | Erythrocytes, Abnormal | Exome | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Thrombocytopenia - genetics | DNA Mutational Analysis | Pedigree | HEK293 Cells | Germ-Line Mutation | Hematologic Diseases - genetics | Adult | Female | Genetic aspects | Disease susceptibility | Gene mutations | Lymphocytic leukemia | Health aspects | Risk factors | Proteins | Transcription factors | Blood platelets | Genomes | Mutation | Blood | Data bases | Deoxyribonucleic acid--DNA | Index Medicus
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7. Full Text JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
by Wang, Y Lynn and Zoi, Katerina and Pahl, Heike L and Cario, Holger and Reiter, Andreas and Jones, Amy V and Collins, Andrew and Grand, Francis and Silver, Richard T and Chase, Andrew and Cross, Nicholas C P and Oscier, David
Nature Genetics, ISSN 1061-4036, 04/2009, Volume 41, Issue 4, pp. 446 - 449
Chronic myeloproliferative neoplasms (MPNs) are a group of related conditions characterized by the overproduction of cells from one or more myeloid lineages.... 
MYELOFIBROSIS | POLYCYTHEMIA-VERA | ACTIVATING MUTATION | GENETICS & HEREDITY | TYROSINE KINASE JAK2 | SUSCEPTIBILITY LOCI | CANCER SUSCEPTIBILITY | DISORDERS | ESSENTIAL THROMBOCYTHEMIA | MYELOID METAPLASIA | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Humans | Janus Kinase 2 - genetics | Polycythemia Vera - enzymology | Genotype | Male | Polycythemia Vera - genetics | Hematologic Neoplasms - enzymology | Thrombocytopenia - genetics | Haplotypes - genetics | Homozygote | Thrombocytopenia - enzymology | Pedigree | Female | Heterozygote | Hematologic Neoplasms - genetics | Models, Genetic | Polymorphism, Single Nucleotide | Amino Acid Substitution | Gene mutations | Physiological aspects | Genetic aspects | Research | Protein kinases | Myeloproliferative disorders | Risk factors | Genotype & phenotype | Ratios | Hypotheses | Genetic disorders | Technological change | Expected values | Index Medicus
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8. Full Text Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes
by Heath, Karen E and Campos-Barros, Angel and Toren, Amos and Rozenfeld-Granot, Galit and Carlsson, Lena E and Savige, Judy and Denison, Joyce C and Gregory, Martin C and White, James G and Barker, David F and Greinacher, Andreas and Epstein, Charles J and Glucksman, Marc J and Martignetti, John A
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1033 - 1045
May-Hegglin anomaly (MHA) and Fechtner (FTNS) and Sebastian (SBS) syndromes are autosomal dominant platelet disorders that share macrothrombocytopenia and... 
LEUKOCYTE INCLUSIONS | GENETIC-LINKAGE | PROTEIN | GENETICS & HEREDITY | DEAFNESS | MICE | A GENE | IDENTIFICATION | GIANT PLATELETS | VARIANT | REGION | Myosin Heavy Chains - chemistry | Humans | Molecular Sequence Data | Myosin Heavy Chains - genetics | Structure-Activity Relationship | Thrombocytopenia - genetics | Haplotypes - genetics | Chromosomes - genetics | DNA Mutational Analysis | Nonmuscle Myosin Type IIA - genetics | Nephritis, Hereditary - physiopathology | Nonmuscle Myosin Type IIA - chemistry | Amino Acid Sequence | Physical Chromosome Mapping | Molecular Motor Proteins | Models, Molecular | Nephritis, Hereditary - genetics | Terminology as Topic | Thrombocytopenia - physiopathology | Exons - genetics | Mutation - genetics | Syndrome | Microsatellite Repeats - genetics | Phenotype | Sequence Alignment | Protein Conformation | Genes, Dominant - genetics | Evolution, Molecular | Thrombocytopenia | Chromosome abnormalities | Gene mutations | Analysis | Myosin | Genetic aspects | Structure-activity relationships (Biochemistry) | Index Medicus
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9. Full Text MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations
by Pecci, Alessandro and Klersy, Catherine and Gresele, Paolo and Lee, Kieran J.D and De Rocco, Daniela and Bozzi, Valeria and Russo, Giovanna and Heller, Paula G and Loffredo, Giuseppe and Ballmaier, Matthias and Fabris, Fabrizio and Beggiato, Eloise and Kahr, Walter H.A and Pujol‐Moix, Nuria and Platokouki, Helen and Van Geet, Christel and Noris, Patrizia and Yerram, Preethi and Hermans, Cedric and Gerber, Bernhard and Economou, Marina and De Groot, Marco and Zieger, Barbara and De Candia, Erica and Fraticelli, Vincenzo and Kersseboom, Rogier and Piccoli, Giorgina B and Zimmermann, Stefanie and Fierro, Tiziana and Glembotsky, Ana C and Vianello, Fabrizio and Zaninetti, Carlo and Nicchia, Elena and Güthner, Christiane and Baronci, Carlo and Seri, Marco and Knight, Peter J and Balduini, Carlo L and Savoia, Anna
Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 236 - 247
MYH 9 ‐related disease ( MYH 9 ‐ RD ) is a rare autosomal‐dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA ( NMMHC ‐ IIA... 
nephropathy | nonmuscle myosin | deafness | thrombocytopenia | MYH | Thrombocytopenia | Deafness | MYH9 | Nephropathy | Nonmuscle myosin | MYH9 RELATED DISEASE | IIA | POWER STROKE STATE | CRYSTAL-STRUCTURE | MOTOR DOMAIN | MYOSIN HEAVY-CHAIN | FECHTNER SYNDROMES | SMOOTH-MUSCLE MYOSIN | EPSTEIN-SYNDROME | GENETICS & HEREDITY | MUTATIONS | Genetic Association Studies | Humans | Risk Factors | Thrombocytopenia - congenital | Myosin Heavy Chains - genetics | Genotype | Linear Models | Male | Hearing Loss, Sensorineural - genetics | Molecular Motor Proteins - genetics | Thrombocytopenia - complications | Thrombocytopenia - genetics | Hearing Loss, Sensorineural - diagnosis | Phenotype | Age of Onset | Adult | Cataract - genetics | Female | Italy | Thrombocytopenia - diagnosis | Hearing Loss, Sensorineural - complications | Mutation | Amino Acid Substitution | Medical research | Chronic kidney failure | Myosin | Medicine, Experimental | Genetic aspects | Muscle proteins | Genotype & phenotype | Genetic counseling | Index Medicus | MYH9-related disease | genetic nephropathy | non-muscle myosin | genetic deafness | inherited thrombocytopenia
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10. Full Text York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
by Markello, Thomas and Chen, Dong and Kwan, Justin Y and Horkayne-Szakaly, Iren and Morrison, Alan and Simakova, Olga and Maric, Irina and Lozier, Jay and Cullinane, Andrew R and Kilo, Tatjana and Meister, Lynn and Pakzad, Kourosh and Bone, William and Chainani, Sanjay and Lee, Elizabeth and Links, Amanda and Boerkoel, Cornelius and Fischer, Roxanne and Toro, Camilo and White, James G and Gahl, William A and Gunay-Aygun, Meral
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2015, Volume 114, Issue 3, pp. 474 - 482
Store-operated Ca entry is the major route of replenishment of intracellular Ca in animal cells in response to the depletion of Ca stores in the endoplasmic... 
STIM1 | York Platelet syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | GRANULES | DEFICIENCY | ELECTRON-DENSE CHAINS | CALCIUM SENSOR STIM1 | TUBULAR-AGGREGATE MYOPATHY | CLUSTERS | GENETICS & HEREDITY | MEGAKARYOCYTES | BODIES | INHERITED THROMBOCYTOPENIC DISORDER | LYMPHOCYTE FUNCTION | Blood Platelets - pathology | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Infant | Male | Blood Platelets - physiology | Erythrocytes, Abnormal - metabolism | Migraine Disorders - metabolism | Miosis - genetics | Ichthyosis - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Thrombocytopenia | Membrane Proteins - genetics | Muscular Diseases - metabolism | Spleen - abnormalities | Dyslexia - genetics | Sequence Analysis, DNA | Channelopathies - genetics | Exome - genetics | Migraine Disorders - genetics | Spleen - metabolism | Pedigree | Blood Platelets - ultrastructure | Heterozygote | Muscle Fatigue - genetics | Miosis - metabolism | Muscular Diseases - genetics | Mutation | Blood Platelet Disorders - metabolism | Genetic aspects | Cells | Index Medicus
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