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Circulation, ISSN 0009-7322, 11/2007, Volume 116, Issue 20, pp. 2253 - 2259
Journal Article
Pathology, ISSN 0031-3025, 02/2013, Volume 45, Issue 2, pp. 116 - 126
BAP1 (BRCA1-Associated Protein 1) was initially identified as a protein that binds to BRCA1. BAP1 is a tumour suppressor that is believed to mediate its... 
pathology | familial cancer | uveal melanoma | skin | diagnosis | inherited tumour susceptibility | melanoma | 3p21 loss syndrome | atypical Spitz tumour | germline mutation | BAP1 | Pathology | Inherited tumour susceptibility | Melanoma | Uveal melanoma | Atypical Spitz tumour | Familial cancer | Germline mutation | Skin | Diagnosis | PLEURAL MESOTHELIOMA | DNA-DAMAGE RESPONSE | BRCA1-ASSOCIATED PROTEIN-1 | RENAL-CELL CARCINOMA | BREAST-CANCER | POLYCOMB GROUP PROTEINS | SPITZ NEVI | HISTONE DEACETYLASE INHIBITORS | MALIGNANT MESOTHELIOMA | MYELODYSPLASTIC SYNDROMES | Neoplasms - metabolism | Carcinoma, Neuroendocrine - diagnosis | Melanoma - diagnosis | Humans | Lung Neoplasms - metabolism | Meningioma - genetics | Neoplasms - diagnosis | Paraganglioma - diagnosis | Adenocarcinoma - metabolism | Neoplasms - genetics | DNA Mutational Analysis | Melanoma - genetics | Gene Deletion | Nevus, Epithelioid and Spindle Cell - genetics | Skin Neoplasms - diagnosis | Tumor Suppressor Proteins - genetics | Biomarkers, Tumor - metabolism | Adenocarcinoma - genetics | Uveal Neoplasms - metabolism | Carcinoma, Neuroendocrine - metabolism | Lung Neoplasms - genetics | Melanoma - metabolism | Uveal Neoplasms - genetics | Genetic Predisposition to Disease | Meningioma - metabolism | Paraganglioma - genetics | Carcinoma, Neuroendocrine - genetics | Mesothelioma - diagnosis | Mesothelioma - genetics | Nevus, Epithelioid and Spindle Cell - metabolism | Ubiquitin Thiolesterase - genetics | Skin Neoplasms - metabolism | Immunohistochemistry - methods | Nevus, Epithelioid and Spindle Cell - diagnosis | Adenocarcinoma - diagnosis | Mesothelioma - metabolism | Paraganglioma - metabolism | Skin Neoplasms - genetics | Uveal Neoplasms - diagnosis | Biomarkers, Tumor - genetics | Meningioma - diagnosis | Mutation | Lung Neoplasms - diagnosis
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 05/2005, Volume 6, Issue 5, pp. 389 - 402
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 03/2009, Volume 284, Issue 10, pp. 6021 - 6025
Journal Article
NATURE GENETICS, ISSN 1061-4036, 02/2015, Volume 47, Issue 2, pp. 180 - 185
We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated... 
GENOMIC LANDSCAPE | DNA-BINDING | PROTEIN | GENE | ACUTE LYMPHOBLASTIC-LEUKEMIA | GENETICS & HEREDITY | TEL | ACUTE MYELOID-LEUKEMIA | GATA2 MUTATIONS | MYELODYSPLASTIC SYNDROMES | INHERITED THROMBOCYTOPENIA
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 11/2015, Volume 1356, Issue 1, pp. 45 - 79
Ca2+ release‐activated Ca2+ (CRAC) channels mediate a specific form of Ca2+ influx called store‐operated Ca2+ entry (SOCE) that contributes to the function of... 
calcium | disease | thrombocytopenia | channelopathy | enamel | CRAC channel | ameloblast | platelets | York platelet syndrome | mutation | STIM1 | muscular hypotonia | autoimmunity | Ca2 | Stormorken syndrome | SOCE | ORAI1 | skeletal muscle | tubular aggregate myopathy | Autoimmunity | Thrombocytopenia | Calcium | Disease | Channelopathy | Tubular aggregate myopathy | Enamel | Muscular hypotonia | Skeletal muscle | Mutation | Platelets | Ameloblast | OPERATED CA2+ ENTRY | SEVERE COMBINED IMMUNODEFICIENCY | IMMUNOLOGY | ACTIVATED CALCIUM-CHANNEL | CLASSIC KAPOSI-SARCOMA | DENTAL ENAMEL CELLS | INHERITED THROMBOCYTOPENIC DISORDER | T-CELL DEVELOPMENT | ELECTRON-DENSE CHAINS | STROMAL INTERACTION MOLECULE-1 | Stromal Interaction Molecule 1 | Muscle Hypotonia - genetics | Membrane Proteins - genetics | Humans | Autoimmune Diseases - immunology | Channelopathies - immunology | Neoplasm Proteins - immunology | Membrane Proteins - immunology | Severe Combined Immunodeficiency - immunology | Channelopathies - pathology | ORAI1 Protein | Autoimmune Diseases - genetics | Muscle Hypotonia - pathology | Severe Combined Immunodeficiency - genetics | Channelopathies - genetics | Calcium Channels - immunology | Severe Combined Immunodeficiency - pathology | Muscle Hypotonia - immunology | Neoplasm Proteins - genetics | Calcium Channels - genetics | Human | Proteins | Mutations | Teeth | Patients | Channels | Diseases | Defects
Journal Article