Pages that link to "Q28243405"
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The following pages link to Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome (Q28243405):
Displaying 50 items.
- gray platelet syndrome (Q5598273) (← links)
- ACTN1 mutations cause congenital macrothrombocytopenia (Q24319165) (← links)
- A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family (Q24337297) (← links)
- Inherited platelet disorders: toward DNA-based diagnosis (Q26752148) (← links)
- Linkage between the mechanisms of thrombocytopenia and thrombopoiesis (Q26770863) (← links)
- Genomic landscape of megakaryopoiesis and platelet function defects (Q26770869) (← links)
- Genotyping and phenotyping of platelet function disorders (Q26860264) (← links)
- Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity (Q27183544) (← links)
- Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice (Q27318606) (← links)
- Megakaryopoiesis and platelet production: insight into hematopoietic stem cell proliferation and differentiation (Q28088519) (← links)
- Proteasome function is required for platelet production (Q28244689) (← links)
- VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes (Q28504778) (← links)
- Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice (Q28506840) (← links)
- Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. (Q28590644) (← links)
- International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country (Q33401645) (← links)
- Inherited thrombocytopenias: an approach to diagnosis and management (Q33402583) (← links)
- Genetics of familial forms of thrombocytopenia (Q33402780) (← links)
- NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish (Q33403523) (← links)
- Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency (Q33404035) (← links)
- Platelets in pulmonary vascular physiology and pathology (Q33404240) (← links)
- Loss of the F-BAR protein CIP4 reduces platelet production by impairing membrane-cytoskeleton remodeling (Q33409315) (← links)
- Congenital platelet disorders and understanding of platelet function (Q33411778) (← links)
- Interpreting the developmental dance of the megakaryocyte: a review of the cellular and molecular processes mediating platelet formation (Q33413168) (← links)
- A case of gray platelet syndrome masked by immune thrombocytopenia at presentation (Q33413580) (← links)
- The Nbeal2(-/-) mouse as a model for the gray platelet syndrome (Q33416324) (← links)
- Diagnosis and treatment of inherited thrombocytopenias. (Q33422383) (← links)
- Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias (Q33422572) (← links)
- Molecular basis of inherited thrombocytopenias (Q33422658) (← links)
- Hematopoietic transcription factor mutations and inherited platelet dysfunction (Q33423803) (← links)
- Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients (Q33430809) (← links)
- Inherited thrombocytopenias-recent advances in clinical and molecular aspects (Q33432109) (← links)
- Platelets are versatile cells: New discoveries in hemostasis, thrombosis, immune responses, tumor metastasis and beyond (Q33432917) (← links)
- Inherited platelet dysfunction and hematopoietic transcription factor mutations (Q33434192) (← links)
- Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management (Q33437696) (← links)
- The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer (Q33438367) (← links)
- α-granule biogenesis: from disease to discovery (Q33439977) (← links)
- Non-genomic activities of retinoic acid receptor alpha control actin cytoskeletal events in human platelets. (Q33872647) (← links)
- A tour through the transcriptional landscape of platelets (Q33948696) (← links)
- Platelets and cancer: a casual or causal relationship: revisited. (Q34294719) (← links)
- The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease (Q34334783) (← links)
- The complex transcriptional landscape of the anucleate human platelet (Q34549628) (← links)
- Genetic sequence analysis of inherited bleeding diseases (Q34663589) (← links)
- Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models (Q35153219) (← links)
- Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders (Q35251288) (← links)
- Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction (Q35604075) (← links)
- The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis (Q36514469) (← links)
- Neurobeachin regulates neurotransmitter receptor trafficking to synapses. (Q36525644) (← links)
- Reactome - a curated knowledgebase of biological pathways: megakaryocytes and platelets (Q36628338) (← links)
- Platelet mRNA: the meaning behind the message (Q36897250) (← links)
- Platelets in lung biology. (Q36897267) (← links)