(Q47969195)

3 June 2018

title

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. (English)

1 reference

3 June 2018

NISC Comparative Sequencing Program

1 reference

12

object named as

NISC Comparative Sequencing Program

1 reference

3 June 2018

11

James C Mullikin

1 reference

3 June 2018

Joshi Stephen

1

1 reference

3 June 2018

Thierry Vilboux

2

1 reference

3 June 2018

Luhe Mian

3

1 reference

3 June 2018

Chulaluck Kuptanon

4

1 reference

3 June 2018

Courtney M Sinclair

5

1 reference

3 June 2018

Deniz Yildirimli

6

1 reference

3 June 2018

Dawn M Maynard

7

1 reference

3 June 2018

Joy Bryant

8

1 reference

3 June 2018

Roxanne Fischer

9

1 reference

3 June 2018

Meghana Vemulapalli

10

1 reference

3 June 2018

Marjan Huizing

13

1 reference

3 June 2018

William A Gahl

14

1 reference

3 June 2018

May Christine V Malicdan

15

1 reference

3 June 2018

Meral Gunay-Aygun

16

1 reference

3 June 2018

publication date

20 February 2017

1 reference

3 June 2018

published in

Human Genetics

1 reference

3 June 2018

volume

136

1 reference

3 June 2018

issue

4

1 reference

3 June 2018

page(s)

399-408

1 reference

3 June 2018

https://scigraph.springernature.com/pub.10.1007/s00439-017-1765-z

exact match

0 references

cites work

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

MiRNA-128 regulates the proliferation and neurogenesis of neural precursors by targeting PCM1 in the developing cortex

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Proteomics. Tissue-based map of the human proteome

4 June 2018

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

4 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

1 December 2018

https://pubmed.ncbi.nlm.nih.gov/28220259

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Proximity interactions among centrosome components identify regulators of centriole duplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Centrosomal protein FOR20 is essential for S-phase progression by recruiting Plk1 to centrosomes.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

The BBSome controls IFT assembly and turnaround in cilia

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

The ciliary transition zone: from morphology and molecules to medicine

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Exome sequencing: the sweet spot before whole genomes

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

A method and server for predicting damaging missense mutations

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Clinical and molecular features of Joubert syndrome and related disorders

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Liver and kidney disease in ciliopathies

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Accurate whole human genome sequencing using reversible terminator chemistry

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Predicting deleterious amino acid substitutions

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

MutationTaster2: mutation prediction for the deep-sequencing age.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395200

Regulating intraflagellar transport

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28220259

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-017-1765-Z

1 reference

3 June 2018

release_hruxbdqabfegxnsltvhdhly3uy

Fatcat ID

0 references

PMCID

5395200

1 reference

3 June 2018

PubMed ID

28220259

1 reference

3 June 2018