(Q36361399)

13 August 2017

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein (English)

1 reference

microcephalic primordial dwarfism

13 August 2017

0 references

1 reference

Katrin Henke

7

0 references

Tune H Pers

object named as

Tune H Pers

10

0 references

Jennifer E Moon

object named as

Jennifer E Moon

5

0 references

Joel Hirschhorn

13

object named as

Joel N Hirschhorn

1 reference

13 August 2017

15

Vivian Hwa

1 reference

13 August 2017

12

Ron G Rosenfeld

1 reference

13 August 2017

Andrew Dauber

1

1 reference

13 August 2017

Stephen H Lafranchi

2

1 reference

13 August 2017

Zoltan Maliga

3

1 reference

13 August 2017

Julian C Lui

4

1 reference

13 August 2017

Cailin McDeed

6

1 reference

13 August 2017

Jonathan Zonana

8

1 reference

13 August 2017

Garrett A Kingman

9

1 reference

13 August 2017

Jeffrey Baron

11

1 reference

13 August 2017

Matthew P Harris

14

1 reference

13 August 2017

language of work or name

English

0 references

publication date

29 August 2012

1 reference

The Journal of Clinical Endocrinology and Metabolism

13 August 2017

1 reference

13 August 2017

97

1 reference

13 August 2017

11

1 reference

13 August 2017

E2140-51

1 reference

A primary microcephaly protein complex forms a ring around parental centrioles.

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Mechanisms and pathways of growth failure in primordial dwarfism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

The centrosome cycle: Centriole biogenesis, duplication and inherent asymmetries

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

A framework for variation discovery and genotyping using next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Asymmetric cell division: recent developments and their implications for tumour biology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Novel CENPJ mutation causes Seckel syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Visualization of image data from cells to organisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Spatial and temporal regulation of gene expression in the mammalian growth plate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Asymmetric centrosome inheritance maintains neural progenitors in the neocortex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Drosophila asterless and vertebrate Cep152 Are orthologs essential for centriole duplication

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

PLINK: a tool set for whole-genome association and population-based linkage analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

The zebra fish cassiopeia mutant reveals that SIL is required for mitotic spindle organization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Molecular characterization of human ninein protein: two distinct subdomains required for centrosomal targeting and regulating signals in cell cycle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Meier-Gorlin syndrome: report of eight additional cases and review.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Genomic organization and molecular characterization of the human ninein gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

The respective contributions of the mother and daughter centrioles to centrosome activity and behavior in vertebrate cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Malformation syndromes. A selected miscellany

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

The zebrafish cerebellar upper rhombic lip generates tegmental hindbrain nuclei by long-distance migration in an evolutionary conserved manner

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485598

Growth hormone insensitivity associated with a STAT5b mutation

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22933543

12 December 2020

inferred from PubMed ID database lookup

Transcriptional regulation of insulin-like growth factor-I by interferon-gamma requires STAT-5b

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22933543

12 December 2020

inferred from PubMed ID database lookup

Autoimmunity against hNinein, a human centrosomal protein, in patients with rheumatoid arthritis and systemic lupus erythematosus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22933543

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1210/JC.2012-2150

1 reference

release_hkj3jj7aevhxdo6na53qyh3p6y

13 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hkj3jj7aevhxdo6na53qyh3p6y

24 November 2022

mapped directly with Wikidata item

1 reference

13 August 2017

PubMed publication ID

22933543

1 reference