Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits - Test2 - elhamkhani - TriplyDB

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

http://www.wikidata.org/entity/Q24304155

about

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA Identification of RPS14 as a 5q- syndrome gene by RNA interference screen The role of human ribosomal proteins in the maturation of rRNA and ribosome production Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients Ribosomopathies: how a common root can cause a tree of pathologies Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathway Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19 Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Ribosomopathies: human disorders of ribosome dysfunction.The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.The role of nuclear bodies in gene expression and disease.Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.Ribosome defects in disorders of erythropoiesis.When ribosomes go bad: diseases of ribosome biogenesis.Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biology Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications Tempo and mode of gene duplication in mammalian ribosomal protein evolution.Ribosomopathies: mechanisms of disease.Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.Control of intracellular heme levels: heme transporters and heme oxygenases Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis The role of haploinsufficiency of RPS14 and p53 activation in the molecular pathogenesis of the 5q- syndrome.Ribosomal protein gene deletions in Diamond-Blackfan anemia.Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea.Alterations in the ribosomal machinery in cancer and hematologic disorders.

P2860

703812d0e020b9206ee23f3bfc3b5f6c70e05000

P248

Q24304508-95DBC348-16E2-4ADF-BAAE-32DF66AE1AC0 Q24306795-7F1D9BD6-9E49-406F-A333-357A48DA8D53 Q24322949-93A46ECE-9DEB-4C14-8F42-64920A833AA2 Q24642192-AF84AD79-7683-41EB-BD4E-7C688C83177C Q24643416-1E0DE7F9-87C8-4886-AA84-B3D8467AB437 Q26781845-E46C1D4A-134C-4D84-AE06-ACEBFD35A066 Q27022918-2D65C68F-2FAB-4B6E-ABC9-62E34490717C Q27647600-4ACF95E5-90BA-4D26-AC1E-93767C143F47 Q28114779-59E6AA03-3C7A-4823-9B6F-93DD43600436 Q28296164-5395DC66-27B7-42E2-BE58-3C51A25C4181 Q29871483-2E486270-9177-4BEB-BB56-EC9523E0963C Q33504868-124BDA14-A288-4257-B096-B2783BD3B9D5 Q33587612-4922240F-3BFC-48E0-9540-913CDE27A21E Q33645930-0FD13D6A-CB24-4B1B-B61D-2834E7939997 Q33806050-D3198AF5-83EE-473C-A551-16A992FEDA60 Q33814261-DE520867-062B-43EA-90B7-5FDE613C7A6F Q33848953-81E681B6-CA36-4F1C-9C63-18FEF3FB776D Q33886441-1DC74C28-B61A-45F9-9CA7-B2FB382802DA Q33916840-00CDAD37-CF98-4358-B951-5A400B6C5B7D Q34007866-640DEE2E-13E8-471D-810A-8E33FD3E8E10 Q34032196-EA8B64D4-8768-4003-991D-ED106D741066 Q34038183-D760DC40-317B-4525-8A8C-E8AA60D42400 Q34110999-C3EB8317-9DD3-4F83-B2B5-CC64DEB8A333 Q34161561-415DF059-EC32-4BDC-AEFE-7E78D2E1AE59 Q34248659-D7BE4403-B27D-474B-BBCF-A9086535BBFC Q34338736-EF367DBF-FD15-4869-ACA8-36F540D7A2A2 Q34358020-6FC2442A-D2FE-43E7-8F48-8E108B073C01 Q34431422-156EE3AC-73A5-438B-A67A-BA45C4475694 Q34435519-CB1D3AAF-B522-4F49-8C5A-05DF4825FA11 Q34450599-D1CC7A12-562B-4D47-8A62-6E1A4EB34922 Q34454066-AF2CF5C7-CA7E-4E1D-86B1-B71595837EDE Q34807611-C4DE6FA1-81E5-4306-8A68-C0F34DD7B797 Q34810793-069BF936-AE51-45CB-9259-BC05B8BF88C8 Q35095302-7D2AF1FC-B2F4-45CC-ACF6-629EBB4802F9 Q35505803-C21F9516-F789-4DB1-AD57-B3014512DC15 Q35631339-E6BCC618-DB26-448D-8CDA-F9DCFCB2C173 Q35680232-EC0CB2C3-1CBC-4B09-8D74-D31C6B41AF18 Q36016299-4F82F14D-7547-4161-9C93-A7822D65083C Q36074032-B4245EFF-58C7-41AC-AEF8-645651468B40 Q36222432-8C24E12A-9DD4-45A3-99B7-44A8D35880BC

P2860

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

http://www.wikidata.org/entity/Q24304155

description

2007 nî lūn-bûn

@nan

2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2007年の論文

@ja

2007年論文

@yue

2007年論文

@zh-hant

2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

name

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@ast

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@en

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@en-gb

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@nl

type

label

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@ast

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@en

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@en-gb

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@nl

prefLabel

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@ast

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@en

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@en-gb

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@nl

P1433

Q24304155-FFA5AF86-589A-407A-BBF6-A4002DE89FEE

P1476

Q24304155-0F098C9E-8FBF-4C2A-BEC1-B63CE1A2BDF5

P2093

Q24304155-3AF4CF35-3720-4FBE-AB45-63239EB5A0D8

Q24304155-48C335F0-9032-4BED-A282-33A32F9E7254

Q24304155-89A6619D-DAEC-4711-94A0-BB0D06EF34D4

Q24304155-AF7C2FA0-86BB-4FDB-BAC8-9558525CF574

Q24304155-D2CD1CDD-608E-47A4-AA4D-EE8CA7ACEC63

Q24304155-F763A6C4-8D3B-47B3-B298-2D1F362BDF70

P2860

Q24304155-09BF92F1-6C11-4C6F-92EE-855F609A714E

Q24304155-10025293-2B98-43B3-99E1-8445EA464E8D

Q24304155-1B7624F5-1601-4B12-A694-FEFABC118DD3

Q24304155-1C2B3693-F5B3-4926-BE55-92A96383EC55

Q24304155-35D64658-D432-44F2-81EA-3D74A19075D3

Q24304155-36F560EB-34B9-4BD0-9AC1-983EFC407B77

Q24304155-44C7DA88-700F-4251-95EF-18FA1434DEBF

Q24304155-4C4ED548-281B-4A71-ADDC-DAAD22291051

Q24304155-519CF535-53EA-4C19-A45D-7FCF2460BF70

Q24304155-620D5193-D376-42EA-BEED-8CF3616BF741

P304

Q24304155-2CDB1501-A98D-445D-85E0-F1D9AB406393

P31

Q24304155-91BB7E94-E356-4055-95F8-9B0CD4AA1FA2

P3181

Q24304155-E953EA8B-2AEF-4E29-B4CA-9B1ABE10FF1D

P356

Q24304155-93500D17-BF6C-4B8D-8767-E7DC27E1E13D

P407

Q24304155-B67D970A-F625-43E6-BAA4-1F67594D8949

P433

Q24304155-EB55A874-0A81-4FE5-9521-BCC7582113CE

P478

Q24304155-F9A2194A-4442-437F-B110-F5EE86031972

P50

Q24304155-31DF6158-FEDA-4283-9EB2-30CFAF057155

P577

Q24304155-ADE9D81F-B172-4EB7-BAFA-BC8952E040CE

P5875

Q24304155-1F6C281D-6C6F-4404-8564-F84D013DB9F0

P698

Q24304155-239AF578-FB38-4DB6-9A89-703D86903235

P921

Q24304155-64900201-E965-4F2C-9017-98D510783366

Q24304155-963207A7-1E3A-4403-88F4-207BD816DCBD

Q24304155-FEF872F6-B190-4600-9738-D98315CF4F48

P932

Q24304155-BB99FA20-5C0E-4C04-BAFE-21849EF539FA

P3181

P356

BLOOD-2006-07-038232

P1433

P1476

Human RPS19, the gene mutated ...... tion of 40S ribosomal subunits

@en

P2093

Anna Aspesi

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

Jacqueline M Caffrey

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

Joshua C Bailey

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

Koichi Miyake

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

Stefan Karlsson

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

Steven R Ellis

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

P2860

A telomerase component is defective in the human disease dyskeratosis congenita

Agonist and antagonist dual effect of the cross-linked S19 ribosomal protein dimer in the C5a receptor-mediated respiratory burst reaction of phagocytic leukocytes

Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function.

Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.

The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.

Ribosome synthesis in Saccharomyces cerevisiae.

A panoramic view of yeast noncoding RNA processing.

P304

980-6

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

P31

scholarly article

P3181

3008788

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

P356

10.1182/BLOOD-2006-07-038232

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

P407

P433

3

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

P478

109

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

P50

P577

2007-02-01T00:00:00Z

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

P5875

6803154

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

P698

16990592

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

P921

Ribosomal protein S19

maturation of SSU-rRNA

P932

1785147

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