(Q24594463)

2

0 references

Mark J Rieder

3

0 references

Anne V Hing

4

0 references

Ian B Stanaway

5

0 references

Sarah S Park

6

0 references

Ram Samudrala

7

0 references

Matthew L Speltz

American Journal of Medical Genetics Part A

8

0 references

language of work or name

English

0 references

publication date

January 2011

0 references

published in

1 reference

Improved prediction of protein side-chain conformations with SCWRL4

volume

155A

0 references

issue

1

0 references

page(s)

91-7

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

24 March 2017

The Protein Data Bank

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Crystal structure of the first three domains of the type-1 insulin-like growth factor receptor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Tgf-beta1, Tgf-beta2, Tgf-beta3 and Msx2 expression is elevated during frontonasal suture morphogenesis and during active postnatal facial growth

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

A comparative structural bioinformatics analysis of the insulin receptor family ectodomain based on phylogenetic information.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Insulin-like growth factor-I receptor mediates the prosurvival effect of fibronectin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Neurodevelopment of infants with single-suture craniosynostosis: presurgery comparisons with case-matched controls

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Tall stature and duplication of the insulin-like growth factor I receptor gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Early surgical treatment of nonsyndromic craniosynostosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Increased IGF-I and IGF-II mRNA and IGF-I peptide in fusing rat cranial sutures suggest evidence for a paracrine role of insulin-like growth factors in suture fusion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Insulin-like growth factors sustain insulin-like growth factor-binding protein-5 expression in osteoblasts.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

An all-atom distance-dependent conditional probability discriminatory function for protein structure prediction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Identification of common ligand binding determinants of the insulin and insulin-like growth factor 1 receptors. Insights into mechanisms of ligand binding

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Immunolocalization of transforming growth factor beta 1, beta 2, and beta 3 and insulin-like growth factor I in premature cranial suture fusion.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Identification of IGF-I in the calvarial suture of young rats: histochemical analysis of the cranial sagittal sutures in a hyperthyroid rat model

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Apert's syndrome: (acrocephalosyndactylism)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Predictive value of minor anomalies. I. Association with major malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Alanine scanning mutagenesis of a type 1 insulin-like growth factor receptor ligand binding site

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

The incidence of isolated craniosynostosis in the newborn infant.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Letter: Partial trisomy 15 as a result of an unbalanced 12/15 translocation in a patient with a cloverleaf skull anomaly

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

30 May 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Insulin-like growth factor binding protein (IGFBP-1) involvement in intrauterine growth retardation: study on IGFBP-1 overexpressing transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Model for the complex between the insulin-like growth factor I and its receptor: towards designing antagonists for the IGF-1 receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Disruption of the insulin-like growth factor type 1 receptor in osteoblasts enhances insulin signaling and action.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Craniosynostosis associated with partial duplication of 15q and deletion of 2q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Phenotype-genotype correlation in a familial IGF1R microdeletion case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33781

Early management of craniosynostosis using endoscopic-assisted strip craniectomies and cranial orthotic molding therapy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Possible genetic heterogeneity in the Saethre-Chotzen syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

Intracranial pressure in single-suture craniosynostosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

A population-based study of craniosynostosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059230

[The effect of insulin-like growth factor 1 on the fusion of cranial suture]

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21204214

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21204214

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Effect of tensile force on the expression of IGF-I and IGF-I receptor in the organ-cultured rat cranial suture

1 reference

https://pubmed.ncbi.nlm.nih.gov/21204214