Found: 18
Select item for more details and to access through your institution.
Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 42, doi. 10.1007/s00439-002-0832-1
- By:
- Publication type:
- Article
Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system.
- Published in:
- FASEB Journal, 2012, v. 26, n. 5, p. 2125, doi. 10.1096/fj.11-198739
- By:
- Publication type:
- Article
Methylome analysis for haemophilia A intron 22 inversion patients with and without inhibitors: A pilot study.
- Published in:
- Haemophilia, 2022, v. 28, n. 6, p. e248, doi. 10.1111/hae.14651
- By:
- Publication type:
- Article
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 4, p. 277, doi. 10.1038/jhg.2012.1
- By:
- Publication type:
- Article
NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 61, doi. 10.1093/hmg/dds401
- By:
- Publication type:
- Article
Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 3, p. 357, doi. 10.1093/hmg/ddm312
- By:
- Publication type:
- Article
Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038579
- By:
- Publication type:
- Article
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 328, p. 1, doi. 10.1126/scitranslmed.aad7666
- By:
- Publication type:
- Article
Anti-vWf Antibodies Induce GPIbα and FcγRII Mediated Platelet Aggregation Only at Low Shear Forces.
- Published in:
- Journal of Thrombosis & Thrombolysis, 2001, v. 12, n. 3, p. 249, doi. 10.1023/A:1015279109247
- By:
- Publication type:
- Article
What’s new in using platelet research? To unravel thrombopathies and other human disorders.
- Published in:
- European Journal of Pediatrics, 2007, v. 166, n. 12, p. 1203, doi. 10.1007/s00431-007-0543-7
- By:
- Publication type:
- Article
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 9, doi. 10.1002/jmd2.12030
- By:
- Publication type:
- Article
Platelet studies in autism spectrum disorder patients and first-degree relatives.
- Published in:
- Molecular Autism, 2015, v. 6, p. 1, doi. 10.1186/s13229-015-0051-y
- By:
- Publication type:
- Article
Unravelling the disease mechanism for TSPYL1 deficiency.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 20, p. 3431, doi. 10.1093/hmg/ddaa233
- By:
- Publication type:
- Article
Functional polymorphisms in the paternally expressed XLαs and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1121, doi. 10.1093/hmg/ddg130
- By:
- Publication type:
- Article
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsα deficiency in platelets.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2741, doi. 10.1093/hmg/11.22.2741
- By:
- Publication type:
- Article
Different substitutions at residueD218 of the X-linked transcription factor GATA1 lead to alteredclinical severity of macrothrombocytopenia and anemia and are associatedwith variable skewed X inactivation.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 2, p. 147, doi. 10.1093/hmg/11.2.147
- By:
- Publication type:
- Article