(Q50480164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

main subject

osteogenesis imperfecta

0 references

1 reference

Meena Balasubramanian

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Winston Hide

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Timothy M. Skerry

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

S Brown

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Rebecca C Pollitt

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Javier Caceres

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Amaka C. Offiah

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

author name string

J Hurst

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

N J Bishop

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

P Arundel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

C DeVile

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

L Crooks

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

D Longman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

F Shackley

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

S Connolly

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

J H Payne

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

D Hughes

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

DDD Study

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

M J Parker

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

publication date

24 October 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

page(s)

65-74

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

Mechanism and regulation of the nonsense-mediated decay pathway

26 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Large-scale discovery of novel genetic causes of developmental disorders

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Tethering the assembly of SNARE complexes

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

DeNovoGear: de novo indel and point mutation discovery and phasing.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

New genes in bone development: what's new in osteogenesis imperfecta

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Retrograde traffic from the Golgi to the endoplasmic reticulum

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Ubiquitin-dependent regulation of COPII coat size and function

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Cell biology: Collagen secretion explained

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

COPII-mediated vesicle formation at a glance

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

The multiple lives of NMD factors: balancing roles in gene and genome regulation

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Mechanistic insights and identification of two novel factors in the C. elegans NMD pathway.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

The nonsense-mediated decay RNA surveillance pathway

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

SNAREs--engines for membrane fusion

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

The neuroblastoma amplified gene, NAG : genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

Genetic heterogeneity in osteogenesis imperfecta

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6067660

5 October 2018

Osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27789416

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BONE.2016.10.023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference