Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors - Wikidata - awgldk - TriplyDB

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

http://www.wikidata.org/entity/Q27000489

about

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodefici Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases Targeting RNA for processing or destruction by the eukaryotic RNA exosome and its cofactors.Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature Structure of a Cytoplasmic 11-Subunit RNA Exosome Complex.Nuclear RNA Exosome at 3.1 Å Reveals Substrate Specificities, RNA Paths, and Allosteric Inhibition of Rrp44/Dis3.Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

P2860

Q36663991-30086892-0CA1-4F21-9BB9-1F84045C6E7B Q36838271-2FA149F2-E05A-4500-B73C-DA1DCD350C07 Q37661690-FE0D657F-829B-427D-974A-498FA87B7BEE Q41700183-52F507DB-82C5-44CA-98F4-2657A5E9FBC7 Q41917159-5B87162F-32BE-456B-98BD-5426F8B83AE9 Q44010541-B86E83A2-EE72-425D-B165-08F3FB667D09 Q54957612-E8B1775B-6FE8-485A-B132-62941434E12B Q58594827-F239593D-9AC0-4229-8280-53A9EFC8CD6C

P2860

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

http://www.wikidata.org/entity/Q27000489

description

2014 nî lūn-bûn

@nan

2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@ast

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@en

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@nl

type

label

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@ast

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@en

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@nl

prefLabel

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@ast

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@en

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@nl

P1433

Q27000489-0D50DADA-D836-4D10-8E9D-38B7054A252A

P1476

Q27000489-D4473C11-C20D-4F27-869B-FDA23CF2708D

P2093

Q27000489-F09C8B96-CCA7-45D1-8DA1-E7B82FAEF4A7

P2860

Q27000489-04960464-FBB5-4AB1-A4D5-CEB92040D3BB

Q27000489-28502913-045A-410E-B0FD-DCDF340B9AB9

Q27000489-44EEEE73-65A5-4B76-837A-733A5C27AAE4

Q27000489-5D896585-700B-433E-A3C6-8B829C8EF4E2

Q27000489-719F8926-BA8B-4088-9F2F-0C81E9C196C5

Q27000489-8A1BC3F2-F86F-4553-BBAB-4072682C5985

Q27000489-8C684713-DCDA-4E9D-AA50-94E6B8B7CD13

Q27000489-8CF1551C-908C-4AA2-A829-030F8C51F0A3

Q27000489-9B754B73-9165-454A-951E-2192E6045B1D

Q27000489-9D880715-C1CC-4399-839A-146B03AE8E5A

P304

Q27000489-D2A38053-F519-468B-8BF7-779B57F40293

P31

Q27000489-92FE6A67-45DB-4EFA-A8CF-3D348B985D58

P3181

Q27000489-8DE2CFF0-5015-4A49-8DB9-D4F6A5A61790

P356

Q27000489-E22822CD-0BF9-48FD-A20F-B3BB319B9C32

P407

Q27000489-842D0C69-DE62-4DB8-8E2B-6AFC977EFF6D

P433

Q27000489-C528F677-2CC1-4E00-9DAE-5DED4473065D

P478

Q27000489-5A593BB5-73AE-48A1-BD79-C1BB2ACD3026

P50

Q27000489-1807DE15-349E-4710-ADB2-A63FAA565737

P577

Q27000489-6281D1B1-A807-4556-A195-6C002DCE618C

P698

Q27000489-048A827A-E15A-4B08-8C16-F2F287628E61

P932

Q27000489-4F0C737A-DDC8-4B0F-A43B-13BAB4EB817C

P3181

P356

P1433

Intractable & Rare Diseases Research

P1476

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

@en

P2093

Catherine Badens

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

P2860

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

Exonuclease hDIS3L2 specifies an exosome-independent 3'-5' degradation pathway of human cytoplasmic mRNA

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Mammalian DIS3L2 exoribonuclease targets the uridylated precursors of let-7 miRNAs

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Syndromic diarrhea/Tricho-hepato-enteric syndrome

Threading the barrel of the RNA exosome

The exosome: a conserved eukaryotic RNA processing complex containing multiple 3'-->5' exoribonucleases

RNA-quality control by the exosome

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

P304

8-11

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

P31

scholarly article

P3181

596707

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

P356

10.5582/IRDR.3.8

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

P407

P433

1

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

P478

3

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

P50

Alexandre Fabre

P577

2014-02-01T00:00:00Z

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

P698

25343120

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

P932

4204543

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