Genetic basis of congenital erythrocytosis: mutation update and online databases. - Wikidata - wikimedia - TriplyDB

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Genetic basis of congenital erythrocytosis: mutation update and online databases.

http://www.wikidata.org/entity/Q42622691

about

The role of PHD2 mutations in the pathogenesis of erythrocytosis.Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.VHL, the story of a tumour suppressor gene.Elevated serum erythropoietin in a patient with polycythaemia vera presenting with Budd-Chiari syndrome.Genetic selection by high altitude: Beware of experiments at ambient conditions Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia Induction of erythropoiesis by hypoxia-inducible factor prolyl hydroxylase inhibitors without promotion of tumor initiation, progression, or metastasis in a VEGF-sensitive model of spontaneous breast cancer.Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.Congenital erythrocytosis.Investigation and Management of Erythrocytosis.Idiopathic erythrocytosis: a study of a large cohort with a long follow-up.Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.Cardiopulmonary phenotype associated with human PHD2 mutation.Gene panel sequencing in idiopathic erythrocytosis.Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis.Investigation of genetic disturbances in oxygen sensing and erythropoietin signaling pathways in cases of idiopathic erythrocytosis.EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey.New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis.A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.Congenital erythrocytosis - discover of a new mutation in the EGLN1 gene.Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.

P2860

Q28598099-F64B32A7-89CC-415F-854B-EF1D1169153E Q33573521-58CF2D5D-F892-43F3-8A30-D182A67D1ACD Q34455226-DA3B59E1-5F98-4068-A69F-CCE6C06AB0DD Q34635408-BF93CD27-AA2B-4C70-9041-9CFF2A6AD075 Q35989773-C97D793A-7916-4244-852D-0E448E1D282D Q36571783-2DBF2D81-178B-47D7-B89B-9EFA6A0AB3E3 Q37705646-4F5C9059-7449-4609-A8E5-75C6CA44DEC1 Q38795383-CE1C856C-E594-4D94-B144-0C9B23EA4211 Q38830441-197EB4F0-AD36-4EB3-9D7F-9DC94FA22245 Q38898732-C6D7E690-E13D-4755-889B-8447B6BC1F7A Q40344797-3B9D027D-F865-49FE-B25A-6F68B25AE325 Q41384272-1064C8CF-B5E0-4961-95E6-C0F1AE6EA3C8 Q42291369-11807F01-8844-4858-BD21-A6DF1FA43B1D Q42334353-08A33C31-D6BC-4937-A854-C709A5030A66 Q42372214-0CB9DFFD-BC31-4CEF-8C41-9E15349C32C7 Q42792483-EFBDF590-53DB-4C88-B17D-8257034B1F94 Q43926355-8727B606-A644-4543-A580-6BACA37C2A97 Q49189706-F463ADE2-D3E1-43D3-B866-423DB70149E4 Q50167563-4B1B2101-4AAE-4AA3-8EA3-21D9A0E1EA67 Q50439176-F5C8DD5E-0268-4AB5-A35A-83AF6D00C2AD Q53793982-0EEB1D32-2410-4721-B036-03BCB3F51232 Q54270100-2589BC10-EBCE-4357-82B5-CA5BE65E7898 Q55003363-8557E318-FCD7-4B16-80E2-B30710DEF54A Q55072080-9B09DEDB-68DE-453D-A987-2D6B59860D87

P2860

Genetic basis of congenital erythrocytosis: mutation update and online databases.

http://www.wikidata.org/entity/Q42622691

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

Genetic basis of congenital erythrocytosis: mutation update and online databases.

@en

Genetic basis of congenital erythrocytosis: mutation update and online databases.

@nl

type

label

Genetic basis of congenital erythrocytosis: mutation update and online databases.

@en

Genetic basis of congenital erythrocytosis: mutation update and online databases.

@nl

prefLabel

Genetic basis of congenital erythrocytosis: mutation update and online databases.

@en

Genetic basis of congenital erythrocytosis: mutation update and online databases.

@nl

P1433

Q42622691-B5A0F96D-3DB3-4A8F-9C1C-6E8BA92D4170

P1476

Q42622691-31AF33F4-4350-47B0-9894-228AD4071583

P2093

Q42622691-01D25EAD-7AD0-4B48-90D8-7BED793A183D

Q42622691-02CE314C-FBF6-4D71-BE96-ACCB20627436

Q42622691-0CD6F700-4221-43AD-9E09-7A14F2497FED

Q42622691-0D6CD475-1149-493E-8C86-65E6E6416DA8

Q42622691-24D1658F-CBEF-4E9D-A034-1DD9A20D5482

Q42622691-2E79B9FA-AB9F-4801-B5B5-8AA9F7D02F6A

Q42622691-3B4A8407-0C01-4E24-9023-83EC37CF0764

Q42622691-3F096B62-ED07-4CD4-A553-A2E16F119536

Q42622691-3F114525-FA14-4325-8C72-822C868C944B

Q42622691-3FBE4D88-DAF6-43CC-8CF7-D6F6146B5661

P2860

Q42622691-02A0489C-6326-47FE-A50F-899C9B5FE925

Q42622691-0553B969-6501-4EA3-BC7C-EE0F1BE0DE55

Q42622691-073D7264-5000-4A76-8068-877239DD1FDA

Q42622691-0AF07996-CEB8-4775-9AFB-06E5F615401C

Q42622691-0E49CB15-F2E7-49A5-BE7F-DF120F1ABB31

Q42622691-0FD22A2B-D8AE-4E84-82B7-58A547606773

Q42622691-111A8AB5-F759-4613-8CC7-8001E9B0A6F4

Q42622691-12446C0F-49A2-4A2A-91E1-9948D0BA874C

Q42622691-14616914-FE9C-4BFD-816B-7BD39D656F57

Q42622691-168DC553-4F7F-4504-8AE3-1239FB73ECBB

P304

Q42622691-E73D9B3A-01FD-48AE-9667-A903C4F3E3DC

P31

Q42622691-D434A204-6A9D-4A56-93F5-2908114765DB

P356

Q42622691-95AFFBC4-4AF2-406F-B17B-E81B0FC56668

P433

Q42622691-296E799C-A507-4C0A-884F-9C523E716C10

P478

Q42622691-9C483C35-8C3D-4AD1-A2F6-6AF8C4C74925

P50

Q42622691-1386526D-4A6C-497A-B2C2-08EF46FFFC09

Q42622691-4722638D-CFB2-443C-A3E4-D1408C44160A

Q42622691-6EFEC807-2C3C-4326-B92D-A9DE28D1E521

Q42622691-79D43657-20E4-4F5B-9507-AF37FE1BDA41

Q42622691-8F55625D-FEC9-4C11-81E9-5F67FF5F3BD0

Q42622691-9AB468F7-2ACB-41A1-8BA2-0AFC9A9EA78B

Q42622691-DE51DD62-B623-473F-9A85-0975C393A49C

P577

Q42622691-2F11CB5E-6BDD-4635-B7C6-754175BED0E2

P5875

Q42622691-179E0E29-222A-400E-A97F-C347886757E8

P698

Q42622691-F59FE5B9-8C20-4EBC-83D8-5C1E214F14D8

P921

Q42622691-91F8ACEF-4627-43AE-823E-1AF8250E575D

P356

P1433

P1476

Genetic basis of congenital erythrocytosis: mutation update and online databases.

@en

P2093

Ana Catarina Oliveira

http://www.w3.org/2001/XMLSchema#string

Anne-Paule Gimenez-Roqueplo

http://www.w3.org/2001/XMLSchema#string

Aurelie Chauveau

http://www.w3.org/2001/XMLSchema#string

Betty Gardie

http://www.w3.org/2001/XMLSchema#string

Brigitte Bressac-de-Paillerets

http://www.w3.org/2001/XMLSchema#string

Britta Landin

http://www.w3.org/2001/XMLSchema#string

Cedric Rossi

http://www.w3.org/2001/XMLSchema#string

Cédric Rossi

http://www.w3.org/2001/XMLSchema#string

Didem Altindirek

http://www.w3.org/2001/XMLSchema#string

Drorit Neumann

http://www.w3.org/2001/XMLSchema#string

P2860

Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis

Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas

Regulation of human metabolism by hypoxia-inducible factor

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

Hypoxic regulation of erythropoiesis and iron metabolism

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

P304

15-26

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/HUMU.22448

http://www.w3.org/2001/XMLSchema#string

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

35

http://www.w3.org/2001/XMLSchema#string

P50

Fulvio Della Ragione

Maria Leticia Ribeiro

Susanne Schnittger

P577

2013-10-22T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

257648792

http://www.w3.org/2001/XMLSchema#string

P698

24115288

http://www.w3.org/2001/XMLSchema#string

P921