Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review

No abstract is available for this paper.

• Publication year

  2021

• Venue

  Gene Therapy

• Publication date

  2021-02-22

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/s41434-021-00238-wPMID 33619359
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

  2020cited by this paper
• A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

  2020cited by this paper
• PIN1 Attenuation Improves Midface Hypoplasia in a Mouse Model of Apert Syndrome

  2019cited by this paper
• Viral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome

  2019cited by this paper
• Precision medicine/personalized medicine: a critical analysis of movements in the transformation of biomedicine in the early 21st century.

  2019cited by this paper
• Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing

  2019cited by this paper
• PIN1 is a new therapeutic target of craniosynostosis

  2018cited by this paper
• Adeno-Associated Virus-Mediated RNAi against Mutant Alleles Attenuates Abnormal Calvarial Phenotypes in an Apert Syndrome Mouse Model

  2018cited by this paper
• Inducible Activation of FGFR2 in Adult Mice Promotes Bone Formation After Bone Marrow Ablation

  2017cited by this paper
• Toward Personalized Gene Therapy: Characterizing the Host Genetic Control of Lentiviral-Vector-Mediated Hepatic Gene Delivery

  2017cited by this paper
• FGFR2c-mediated ERK-MAPK activity regulates coronal suture development.

  2016cited by this paper
• Mouse models of human disease evolutionary perspective

  2016cited by this paper
• Mouse models of human disease

  2016cited by this paper
• Inhibited Wnt Signaling Causes Age-Dependent Abnormalities in the Bone Matrix Mineralization in the Apert Syndrome FGFR2S252W/+ Mice

  2015cited by this paper
• OHAT Risk of Bias Rating Tool for Human and Animal Studies

  2015cited by this paper
• Fibroblast growth factor (FGF) signaling in development and skeletal diseases

  2014cited by this paper
• Therapeutic Effect of Nanogel-Based Delivery of Soluble FGFR2 with S252W Mutation on Craniosynostosis

  2014cited by this paper
• SYRCLE’s risk of bias tool for animal studies

  2014cited by this paper
• Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse model

  2014cited by this paper
• The molecular and cellular basis of Apert syndrome.

  2013cited by this paper
• Study of environmental and genetic factors in children with craniosynostosis: A case-control study

  2013cited by this paper
• Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts

  2012cited by this paper
• Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model.

  2011cited by this paper
• Craniosynostosis genetics: The mystery unfolds

  2011cited by this paper
• FGFR2 Mutation Confers a Less Drastic Gain of Function in Mesenchymal Stem Cells Than in Fibroblasts

  2011cited by this paper
• Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.

  2010cited by this paper
• Oral manifestations in Apert syndrome: case presentation and a brief review of the literature.

  2010cited by this paper
• Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations

  2009cited by this paper
• Preferred reporting items for systematic reviews and meta-analyses: the PRISMA Statement

  2009cited by this paper
• Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model.

  2009cited by this paper
• Gene therapy and its implications in Periodontics

  2009cited by this paper
• A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.

  2008cited by this paper
• RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

  2007cited by this paper
• Genetics of craniosynostosis.

  2007cited by this paper
• Principles of gene therapy.

  2007cited by this paper
• Apert syndrome with septum pellucidum agenesis.

  2007cited by this paper
• Inhibition or Activation of Apert Syndrome FGFR2 (S252W) Signaling by Specific Glycosaminoglycans*

  2006cited by this paper
• A Soluble Form of Fibroblast Growth Factor Receptor 2 (FGFR2) with S252W Mutation Acts as an Efficient Inhibitor for the Enhanced Osteoblastic Differentiation Caused by FGFR2 Activation in Apert Syndrome*

  2004cited by this paper
• The BMP antagonist noggin regulates cranial suture fusion

  2003cited by this paper
• In vivo modulation of FGF biological activity alters cranial suture fate.

  2001cited by this paper
• Genetics of craniofacial development and malformation

  2001cited by this paper
• Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery

  2000cited by this paper
• Signaling by Fibroblast Growth Factors (Fgf) and Fibroblast Growth Factor Receptor 2 (Fgfr2)–Activating Mutations Blocks Mineralization and Induces Apoptosis in Osteoblasts

  2000cited by this paper
• Cranial suture obliteration is induced by removal of transforming growth factor (TGF)-beta 3 activity and prevented by removal of TGF-beta 2 activity from fetal rat calvaria in vitro.

  1999cited by this paper
• Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

  1998cited by this paper
• [Principles of gene therapy].

  1998cited by this paper
• Craniosynostosis: genes and mechanisms.

  1997cited by this paper
• The oral manifestations of Apert syndrome.

  1992cited by this paper
• One Contribution to the Special Feature 'evolution and Genetics in Medicine' Guest Edited Gene Therapy: Progress and Predictions

  year unknowncited by this paper

• Aper syndrome in a child: A case from practice

  2025cites this paper
• Bridging the gap between omics research and dental practice

  2024cites this paper
• Syndactyly in a Newborn.

  2024cites this paper
• Apert syndrome: modern aspects of diagnosis and treatment

  2024cites this paper
• Infigratinib, a selective FGFR1‐3 tyrosine kinase inhibitor, alters dentoalveolar development at high doses

  2023cites this paper
• Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

  2023cites this paper