Pages that link to "Q33905244"

The following pages link to Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. (Q33905244):

Displaying 39 items.

• Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline (Q24309788) (← links)
• The ubiquitin ligase Triad1 inhibits myelopoiesis through UbcH7 and Ubc13 interacting domains (Q24311700) (← links)
• Hypoxia-inducible factors in the kidney (Q28303287) (← links)
• Hypoxia-inducible factor-2 (HIF-2) regulates hepatic erythropoietin in vivo (Q28594830) (← links)
• Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis (Q35560195) (← links)
• Expression of stem cells markers in ocular hemangioblastoma associated with von Hippel-Lindau (VHL) disease (Q35809608) (← links)
• von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis (Q36121776) (← links)
• Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma (Q36123826) (← links)
• VHL: oxygen sensing and vasculogenesis (Q36173271) (← links)
• Cancer-causing mutations in a novel transcription-dependent nuclear export motif of VHL abrogate oxygen-dependent degradation of hypoxia-inducible factor. (Q36421050) (← links)
• Ubiquitylation in normal and malignant hematopoiesis: novel therapeutic targets (Q36574553) (← links)
• A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma (Q36605344) (← links)
• Oxygen sensing: recent insights from idiopathic erythrocytosis (Q36710281) (← links)
• Genetically heterogeneous origins of idiopathic erythrocytosis (Q36799622) (← links)
• The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). (Q36862486) (← links)
• Organ protection by hypoxia and hypoxia-inducible factors (Q36999076) (← links)
• VHL inactivation in renal cell carcinoma: implications for diagnosis, prognosis and treatment (Q37038901) (← links)
• Regulation of erythropoiesis by hypoxia-inducible factors (Q37063716) (← links)
• Familial chronic myeloproliferative disorders: the state of the art. (Q37165474) (← links)
• Genetic causes of erythrocytosis and the oxygen-sensing pathway (Q37185770) (← links)
• The complete evaluation of erythrocytosis: congenital and acquired (Q37417455) (← links)
• Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (Q37685596) (← links)
• Prolyl hydroxylase domain-containing protein inhibitors as stabilizers of hypoxia-inducible factor: small molecule-based therapeutics for anemia (Q37779100) (← links)
• The HIF Pathway and Erythrocytosis (Q37799606) (← links)
• HIF pathway mutations and erythrocytosis (Q37810073) (← links)
• Hypoxia. 5. Hypoxia and hematopoiesis (Q37849079) (← links)
• The von Hippel-Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice. (Q39250750) (← links)
• Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. (Q39273902) (← links)
• Oxygen-dependent Regulation of Erythropoietin Receptor Turnover and Signaling (Q39770199) (← links)
• Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis (Q41384272) (← links)
• Genetic basis of congenital erythrocytosis: mutation update and online databases (Q42622691) (← links)
• Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?). (Q45897769) (← links)
• Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene (Q46330651) (← links)
• The HIF and other quandaries in VHL disease (Q50026055) (← links)
• Secondary polycythemia caused by ureteropelvic junction obstruction successfully treated by laparoscopic nephrectomy (Q50733016) (← links)
• Novel mutations in the von Hippel-Lindau gene associated with congenital polycythemia (Q52159598) (← links)
• The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. (Q53286741) (← links)
• A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family (Q61704981) (← links)
• The worldwide distribution of the VHL 598C>T mutation indicates a single founding event (Q79267105) (← links)