CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. (Q47833514)

http://europepmc.org/abstract/PMC/5591019

29 June 2018

title

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. (English)

1 reference

http://europepmc.org/abstract/PMC/5591019

29 June 2018

author

Noémi K Van Hul

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Byrappa Venkatesh

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Xavier Bisteau

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Stéphane Blouin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Vincenzo Coppola

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Verena Rupp

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Umut Altunoglu

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ali Al Kaissi

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Philipp Kaldis

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

26

Klaus Klaushofer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

33

Bernd Wollnik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

25

Paul Roschger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

24

Katharina Roetzer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

21

Lino Tessarollo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Christian Windpassinger

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Juliette Piard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Carine Bonnard

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Majid Alfadhel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Shuhui Lim

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Nur'Ain B Ali

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Alvin Yu Jin Ng

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Hao Lu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sumanty Tohari

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

S Zakiah A Talib

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Matias J Caldez

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Lionel Van Maldergem

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Gökhan Yigit

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Hülya Kayserili

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sameh A Youssef

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Alain de Bruin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Hyungwon Choi

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Janine Altmüller

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sudipto Roy

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Rudolf Ganger

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Franz Grill

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Farid Ben Chehida

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Bruno Reversade

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

English

0 references

publication date

1 September 2017

1 reference

http://europepmc.org/abstract/PMC/5591019

29 June 2018

published in

American Journal of Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

391-403

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

The awakening of the CDK10/Cyclin M protein kinase

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Loss of the Greatwall Kinase Weakens the Spindle Assembly Checkpoint

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Analyzing and interpreting genome data at the network level with ConsensusPathDB

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

EBprot: Statistical analysis of labeling-based quantitative proteomics data.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Knockdown of cyclin-dependent kinase 10 (cdk10) gene impairs neural progenitor survival via modulation of raf1a gene expression

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Cdks, cyclins and CKIs: roles beyond cell cycle regulation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Cyclin-dependent kinase 1 (Cdk1) is essential for cell division and suppression of DNA re-replication but not for liver regeneration.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

The UCSC Genome Browser database: update 2011

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Cyclin-dependent kinases: a family portrait.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Cdk2 knockout mice are viable

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Quantitative studies of the growth of mouse embryo cells in culture and their development into established lines

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

The human genome browser at UCSC

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Cdk10, a Cdc2-related kinase, associates with the Ets2 transcription factor and modulates its transactivation activity

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Human CDK10 gene isoforms

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

PISSLRE, a human novel CDC2-related protein kinase

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Molecular cloning of PISSLRE, a novel putative member of the cdk family of protein serine/threonine kinases

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT).

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

Analysis of Fgf8 gene function in vertebrate development

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591019

10.1016/J.AJHG.2017.08.003

14 August 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886341%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference