(Q28509672)

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A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting

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scholarly article

2 references

24 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23935987%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting (English)

2 references

24 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23935987%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Transformation related protein 53

1 reference

GOA release 2020-03-11

PAK1 interacting protein 1

1 reference

GOA release 2020-03-11

Transformed mouse 3T3 cell double minute 2

1 reference

GOA release 2020-03-11

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23935987%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Piotr Wójcicki

9

1 reference

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7 March 2020

Adrianna Mostowska

10

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7 March 2020

Iannis E Adamopoulos

12

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7 March 2020

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Youngshik Choe

3

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24 January 2017

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7 March 2020

Simon Helminski

4

2 references

24 January 2017

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7 March 2020

Richard Sturm

5

2 references

24 January 2017

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7 March 2020

Beth Davidson

11

2 references

24 January 2017

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7 March 2020

Adam P Ross

1

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7 March 2020

M Adela Mansilla

2

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7 March 2020

Roy L Maute

6

1 reference

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7 March 2020

Scott R May

7

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7 March 2020

Samuel J Pleasure

13

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7 March 2020

Jeffrey C Murray

14

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7 March 2020

Konstantinos S Zarbalis

15

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7 March 2020

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25 July 2013

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7 March 2020

2 references

24 January 2017

Europe PubMed Central

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7 March 2020

8

2 references

24 January 2017

Europe PubMed Central

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7 March 2020

7

2 references

24 January 2017

Europe PubMed Central

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7 March 2020

e69333

2 references

24 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23935987%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

copyright license

Creative Commons Attribution 4.0 International

25 July 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning

1 reference

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19 March 2017

Cleft lip and palate: understanding genetic and environmental influences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

A map of human genome variation from population-scale sequencing

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

TFAP2A mutations result in branchio-oculo-facial syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

The p21-activated protein kinase inhibitor Skb15 and its budding yeast homologue are 60S ribosome assembly factors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

Contributions of PTCH gene variants to isolated cleft lip and palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

A focused and efficient genetic screening strategy in the mouse: identification of mutations that disrupt cortical development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

The International HapMap Project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

The human genome browser at UCSC

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

Regulation of the p21-activated kinase (PAK) by a human Gbeta -like WD-repeat protein, hPIP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

Primer3 on the WWW for general users and for biologist programmers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

Physical and genetic interactions between Alx4 and Cart1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

19 March 2017

Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants

1 reference

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19 March 2017

The endocytic adapter E-Syt2 recruits the p21 GTPase activated kinase PAK1 to mediate actin dynamics and FGF signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

PAK1IP1, a ribosomal stress-induced nucleolar protein, regulates cell proliferation via the p53-MDM2 loop.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Spatiotemporal regulation of the Pak1 kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Orofacial clefting: recent insights into a complex trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

The genetics of Pak.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Clinical features, treatment and genetic background of Treacher Collins syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Gene/environment causes of cleft lip and/or palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723895

29 September 2017

Fgf8 dosage determines midfacial integration and polarity within the nasal and optic capsules

1 reference

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2 June 2018

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

1 reference

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1 reference

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1 reference

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The family based association test method: strategies for studying general genotype--phenotype associations.

1 reference

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21 January 2018

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

1 reference

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21 January 2018

Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio

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1 reference

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Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families

1 reference

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based on heuristic

inferred from PubMed ID database lookup

Genetic and molecular characterization of Skb15, a highly conserved inhibitor of the fission yeast PAK, Shk1

1 reference

https://pubmed.ncbi.nlm.nih.gov/23935987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region

1 reference

https://pubmed.ncbi.nlm.nih.gov/23935987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PDGF receptor mutation in the mouse (Patch) perturbs the development of a non-neuronal subset of neural crest-derived cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/23935987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression domains of murine ephrin-A5 in the pituitary and hypothalamus

1 reference

https://pubmed.ncbi.nlm.nih.gov/23935987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0069333

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23935987%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

2013PLoSO...869333R

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23935987%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

2 references

24 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23935987%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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