ALX4 gain-of-function mutations in nonsyndromic craniosynostosis (Q36392637)

13 August 2017

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis (English)

1 reference

13 August 2017

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Jinoh Kim

12

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author name string

Garima Yagnik

1

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13 August 2017

Apar Ghuman

2

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13 August 2017

Sundon Kim

3

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13 August 2017

Christina G Stevens

4

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13 August 2017

Virginia Kimonis

5

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13 August 2017

Joan Stoler

6

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13 August 2017

Pedro A Sanchez-Lara

7

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13 August 2017

Jonathan A Bernstein

8

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13 August 2017

Cyril Naydenov

9

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13 August 2017

Hicham Drissi

10

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13 August 2017

Michael L Cunningham

11

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13 August 2017

Simeon A Boyadjiev

13

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13 August 2017

13 August 2012

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13 August 2017

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13 August 2017

33

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13 August 2017

1626-1629

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13 August 2017

12

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Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Genetics of craniosynostosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Genetic analysis of non-syndromic craniosynostosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Overexpression of Nell-1, a craniosynostosis-associated gene, induces apoptosis in osteoblasts during craniofacial 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=3495992

Regulation of human cranial osteoblast phenotype by FGF-2, FGFR-2 and BMP-2 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=3495992

Mutations in yeast Rad51 that partially bypass the requirement for Rad55 and Rad57 in DNA repair by increasing the stability of Rad51-DNA complexes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Alx4 binding to LEF-1 regulates N-CAM promoter activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Physical and genetic interactions between Alx4 and Cart1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

FGF-, BMP- and Shh-mediated signalling pathways in the regulation of cranial suture morphogenesis and calvarial bone 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=3495992

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen 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=3495992

Bone morphogenetic proteins in 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=3495992

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Wnt signalling goes nuclear

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation.

30 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

Isolation of differentially expressed genes from wild-type and Twist mutant mouse limb buds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

Fetal constraint as a potential risk factor for craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

Enhanced activity of osteoblast differentiation factor (PEBP2alphaA2/CBFa1) in affected sutural osteoblasts from patients with nonsyndromic craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

Integration of FGF and TWIST in calvarial bone and suture development.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3495992

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

21 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22166

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22829454

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22166

1 reference

13 August 2017

1 reference

13 August 2017

1 reference