Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

about

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Item

http://www.wikidata.org/entity/Q47941089

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Monoallelic and biallelic CREB ...... esis imperfecta, respectively.

@en

Monoallelic and biallelic CREB ...... esis imperfecta, respectively.

@nl

type

Item

label

Monoallelic and biallelic CREB ...... esis imperfecta, respectively.

@en

Monoallelic and biallelic CREB ...... esis imperfecta, respectively.

@nl

prefLabel

Monoallelic and biallelic CREB ...... esis imperfecta, respectively.

@en

Monoallelic and biallelic CREB ...... esis imperfecta, respectively.

@nl

P1476

Monoallelic and biallelic CREB ...... nesis imperfecta, respectively

@en

P2093

Deborah A Nickerson

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

George McGillivray

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

Melanie G Pepin

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

Michael J Bamshad

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

Peter H Byers

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

Ravi Savarirayan

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

Shawna M Pyott

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

Thao T Tran

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

P2860

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

ER cargo properties specify a requirement for COPII coat rigidity mediated by Sec13p.

Systematic identification of cell cycle-dependent yeast nucleocytoplasmic shuttling proteins by prediction of composite motifs

OASIS, a CREB/ATF-family member, modulates UPR signalling in astrocytes

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

Identification of a novel gene, OASIS, which encodes for a putative CREB/ATF family transcription factor in the long-term cultured astrocytes and gliotic tissue

Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

P2888

gim.2017.115

P304

411-419

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

P31

scholarly article

P356

10.1038/GIM.2017.115

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

P407

English

P433

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

P478

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

P50

Rachel B Keller

P577

2017-08-17T00:00:00Z

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

P698

28817112

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

P921

osteogenesis imperfecta

P932

5816725

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