(Q35131255)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Regulation of gene expression in the mammalian eye and its relevance to eye disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Kwang-Youn Kim

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Jian Huang

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Val C Sheffield

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Edwin M. Stone

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Ruth E Swiderski

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Alisdair R Philp

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Terry A Braun

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Kevin L Knudtson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Anne M Dorrance

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Gerald F DiBona

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Thomas L Casavant

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

language of work or name

English

0 references

publication date

18 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

30 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

14429-14434

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

30 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Genetic networks controlling retinal injury

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Integrating genotypic and expression data in a segregating mouse population to identify 5-lipoxygenase as a susceptibility gene for obesity and bone traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Local regulatory variation in Saccharomyces cerevisiae

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Complex trait analysis of gene expression uncovers polygenic and pleiotropic networks that modulate nervous system function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

A beginner's guide to NF-kappaB signaling pathways

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

The functional landscape of mouse gene expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Genetic analysis of genome-wide variation in human gene expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Patterns of genetic variation in Mendelian and complex traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Molecular mechanisms of human hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

A thyroid hormone receptor that is required for the development of green cone photoreceptors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Cluster analysis and display of genome-wide expression patterns

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Permutation tests for multiple loci affecting a quantitative character

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Genetic dissection of complex traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Uncovering regulatory pathways that affect hematopoietic stem cell function using 'genetical genomics'.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Genetics of gene expression surveyed in maize, mouse and man

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

The c-Rel transcription factor can both induce and inhibit apoptosis in the same cells via the upregulation of MnSOD.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Genetic dissection of transcriptional regulation in budding yeast

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Genomic and funtional aspects of the rat MHC, the RT1 complex

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Mutations in MKKS cause Bardet-Biedl syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636701

A direct approach to false discovery rates

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0602562103

Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16983098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Variations on a theme: cataloging human DNA sequence variation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16983098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An analysis of allelic variation in the ABCA4 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16983098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0602562103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983098%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference