York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Molecular Genetics and Metabolism

Volumn 114, Issue 3, 2015, Pages 474-482

  Markello, Thomas ^a   Chen, Dong ^b   Kwan, Justin Y ^c   Horkayne Szakaly, Iren ^d   Morrison, Alan ^d   Simakova, Olga ^e   Maric, Irina ^e   Lozier, Jay ^e   Cullinane, Andrew R ^f   Kilo, Tatjana ^g   Meister, Lynn ^h   Pakzad, Kourosh ⁱ   Bone, William ^a   Chainani, Sanjay ^a   Lee, Elizabeth ^a   Links, Amanda ^a   Boerkoel, Cornelius ^a   Fischer, Roxanne ^f   Toro, Camilo ^a   White, James G ^j   Gahl, William A ^a,f   Gunay Aygun, Meral ^f   more..

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^d Defense Health Agency   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g The Children's Hopsital at Westmead   (Australia)

^h JOE DIMAGGIO CHILDREN S HOSPITAL   (United States)

ⁱ Memorial Healthcare System   (United States)

^j UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

more..

Author keywords

STIM1; York Platelet syndrome

Indexed keywords

CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL; STROMAL INTERACTION MOLECULE 1; CALCIUM; MEMBRANE PROTEIN; STIM1 PROTEIN, HUMAN; TUMOR PROTEIN;

ADULT; ARM WEAKNESS; ARTICLE; CALCIUM CHANNELOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; DEEP VEIN THROMBOSIS; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; EPISTAXIS; ERYTHROCYTE TRANSFUSION; FEMALE; GAIN OF FUNCTION MUTATION; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; POSTPARTUM HEMORRHAGE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BRUISING; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; WEAKNESS; YORK PLATELET SYNDROME; ABNORMALITIES; CASE REPORT; CHANNELOPATHY; DYSLEXIA; ERYTHROCYTE DISORDER; EXOME; GENETICS; HETEROZYGOTE; ICHTHYOSIS; INFANT; METABOLISM; MIDDLE AGED; MIGRAINE; MIOSIS; MUSCLE DISEASE; MUSCLE FATIGUE; MUTATION; PATHOLOGY; PEDIGREE; PHYSIOLOGY; SPLEEN; THROMBOCYTE; THROMBOCYTE DISORDER; ULTRASTRUCTURE;

ANIMALIA;

ADULT; BLOOD PLATELET DISORDERS; BLOOD PLATELETS; CALCIUM; CHANNELOPATHIES; CHILD; CHILD, PRESCHOOL; DYSLEXIA; ERYTHROCYTES, ABNORMAL; EXOME; FEMALE; HETEROZYGOTE; HUMANS; ICHTHYOSIS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MIGRAINE DISORDERS; MIOSIS; MUSCLE FATIGUE; MUSCULAR DISEASES; MUTATION; NEOPLASM PROTEINS; PEDIGREE; SEQUENCE ANALYSIS, DNA; SPLEEN; STROMAL INTERACTION MOLECULE 1; THROMBOCYTOPENIA;

EID: 84924169727     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.12.307     Document Type: Article

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