(Q40386188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

title

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Karita Peltonen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Kristiina Kanerva

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Seyhun Solakoglu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Elina Ikonen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Aslihan Tolun

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

author name string

Bülent Kara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Çiğdem Köroğlu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Ruchama C Steinberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Hülya Maraş Genç

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Ayşe Güven

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Tuğba Kotil

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

You Zhou

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Vesa M Olkkonen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Marikki Laiho

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

publication date

4 January 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

5 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

page(s)

315-323

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2016.183

5 April 2020

exact match

0 references

cites work

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

The Phyre2 web portal for protein modeling, prediction and analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Case definition and classification of leukodystrophies and leukoencephalopathies

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

A targeting modality for destruction of RNA polymerase I that possesses anticancer activity.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Crystal structure of the 14-subunit RNA polymerase I

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

RNA polymerase I structure and transcription regulation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Cytoplasmic oxysterol-binding proteins: sterol sensors or transporters?

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Wisely chosen paths--regulation of rRNA synthesis: delivered on 30 June 2010 at the 35th FEBS Congress in Gothenburg, Sweden

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Niemann-Pick disease type C

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

A method and server for predicting damaging missense mutations

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

ProSA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

The RNA polymerase I transcription machinery

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Cellular pathology of Niemann-Pick type C disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

A family of 12 human genes containing oxysterol-binding domains

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Mobilization of late-endosomal cholesterol is inhibited by Rab guanine nucleotide dissociation inhibitor

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

VERIFY3D: assessment of protein models with three-dimensional profiles

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

MutationTaster2: mutation prediction for the deep-sequencing age.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Association of OSBPL11 gene polymorphisms with cardiovascular disease risk factors in obesity

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5334463

Sarcopenic/obesity and physical capacity in older men and women: data from the Nutrition as a Determinant of Successful Aging (NuAge)-the Quebec longitudinal Study

20 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2016.183

Nonvesicular sterol transport: two protein families and a sterol sensor?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2016.183

Intracellular cholesterol transport

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2016.183

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2016.183

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28051070%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

PubMed publication ID

28051070

1 reference