(Q27321657)

26 June 2017

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice (English)

1 reference

Mitogen-activated protein kinase kinase kinase 20

26 June 2017

0 references

1 reference

GOA release 2020-03-11

limb development

1 reference

Mitogen-activated protein kinase kinase kinase 20

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Peter Nürnberg

18

0 references

Gudrun Nürnberg

5

0 references

Hans van Bokhoven

16

0 references

Stefan Mundlos

22

Stefan Mundlos

1 reference

26 June 2017

14

1 reference

ORCID Public Data File 2021

Christian Kubisch

21

Christian Kubisch

0 references

Malte Spielmann

Malte Spielmann

1

0 references

Darío G. Lupiáñez

Darío G Lupiáñez

7

0 references

Holger Thiele

15

Holger Thiele

1 reference

26 June 2017

10

Denise Horn

1 reference

26 June 2017

19

James U Bowie

1 reference

26 June 2017

Naseebullah Kakar

2

1 reference

26 June 2017

Naeimeh Tayebi

3

1 reference

26 June 2017

Catherine Leettola

4

1 reference

26 June 2017

Nadine Sowada

6

1 reference

26 June 2017

Izabela Harabula

8

1 reference

26 June 2017

Ricarda Flöttmann

9

1 reference

26 June 2017

Wing Lee Chan

11

1 reference

26 June 2017

Lars Wittler

12

1 reference

26 June 2017

Rüstem Yilmaz

13

1 reference

26 June 2017

Charles E Schwartz

17

1 reference

26 June 2017

Jamil Ahmad

20

1 reference

26 June 2017

Guntram Borck

23

1 reference

26 June 2017

language of work or name

English

0 references

publication date

11 January 2016

1 reference

26 June 2017

1 reference

26 June 2017

26

1 reference

26 June 2017

2

1 reference

26 June 2017

183-191

1 reference

Expanding the Biologist's Toolkit with CRISPR-Cas9

26 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Structure of the dimerization domain of DiGeorge Critical Region 8

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Regulation of enzyme localization by polymerization: polymer formation by the SAM domain of diacylglycerol kinase delta1

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Cloning and expression of ZAK, a mixed lineage kinase-like protein containing a leucine-zipper and a sterile-alpha motif

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Protein structure prediction on the Web: a case study using the Phyre server

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

A novel zinc finger protein, ZZaPK, interacts with ZAK and stimulates the ZAK-expressing cells re-entering the cell cycle

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Identification and characterization of a novel MAP kinase kinase kinase, MLTK

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Increasing the efficiency of homology-directed repair for CRISPR-Cas9-induced precise gene editing in mammalian cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

A chemoproteomic platform to quantitatively map targets of lipid-derived electrophiles

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

The evolution of lineage-specific regulatory activities in the human embryonic limb

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

A novel role of cytosolic protein synthesis inhibition in aminoglycoside ototoxicity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Coding exons function as tissue-specific enhancers of nearby genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

A human sterile alpha motif domain polymerizome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

p63, a story of mice and men.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

ZAK induces MMP-2 activity via JNK/p38 signals and reduces MMP-9 activity by increasing TIMP-1/2 expression in H9c2 cardiomyoblast cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Relationships between p63 binding, DNA sequence, transcription activity, and biological function in human cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Split hand foot malformation (SHFM).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

SUMO fusions and SUMO-specific protease for efficient expression and purification of proteins.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Morphological and molecular characterization of retinoic acid-induced limb duplications in mice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

Generation of chimeras by aggregation of embryonic stem cells with diploid or tetraploid mouse embryos.

31 May 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.199430.115

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.199430.115

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.199430.115

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.199430.115

The protein kinase MLTK regulates chondrogenesis by inducing the transcription factor Sox6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.199430.115

All-trans-retinoid acid (ATRA) suppresses chondrogenesis of rat primary hind limb bud mesenchymal cells by downregulating p63 and cartilage-specific molecules.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.199430.115

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

The use of Preyer's reflex in evaluation of hearing in mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4728371

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26755636

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.199430.115

1 reference

26 June 2017

0 references

1 reference