A novel cause for primordial dwarfism revealed: defective tRNA modification.

about

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients.

P2860

Q41919459-550F84B9-0B7A-4C92-A610-63260EC91687 Q52125937-134C0CC4-394B-4404-92F6-5EB908FE3F83

P2860

A novel cause for primordial dwarfism revealed: defective tRNA modification.

Item

http://www.wikidata.org/entity/Q41486109

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

A novel cause for primordial dwarfism revealed: defective tRNA modification.

@en

type

Item

label

A novel cause for primordial dwarfism revealed: defective tRNA modification.

@en

prefLabel

A novel cause for primordial dwarfism revealed: defective tRNA modification.

@en

P1476

A novel cause for primordial dwarfism revealed: defective tRNA modification

@en

P2093

Liudmila Filonava

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

Lluis Ribas de Pouplana

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

P2860

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein

tRNA biology charges to the front

Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome

Inosine modifications in human tRNAs are incorporated at the precursor tRNA level.

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Role of tRNA modifications in human diseases.

A-to-I editing on tRNAs: biochemical, biological and evolutionary implications.

tRNA m7G methyltransferase Trm8p/Trm82p: evidence linking activity to a growth phenotype and implicating Trm82p in maintaining levels of active Trm8p.

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

P2888

s13059-015-0786-y

P304

216

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

P31

scholarly article

P356

10.1186/S13059-015-0786-Y

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

P478

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

P50

Adrian G Torres

P577

2015-10-01T00:00:00Z

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

P5875

282443907

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

P6179

1018985678

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

P698

26429597

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

P932

4591068

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

A novel cause for primordial dwarfism revealed: defective tRNA modification.

about

P2860

P2860

A novel cause for primordial dwarfism revealed: defective tRNA modification.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932