Associated Papers
Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant.
Fetecau AC et al.
European Journal of Medical Genetics, 2026
Overlap of genetic factors among craniosynostosis and autism spectrum disorder: the presence of autistic cases without craniosynostosis in carriers of shared variants.
Ijichi S et al.
Journal of Neurosurgery. Pediatrics, 2025
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.
Siismets EM et al.
Journal of Developmental Biology, 2020
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Timberlake AT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA et al.
Journal of Medical Genetics, 2017
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
A Genetic-Pathophysiological Framework for Craniosynostosis.
Twigg SR et al.
American Journal of Human Genetics, 2015
Boston type craniosynostosis: report of a second mutation in MSX2.
Florisson JM et al.
American Journal of Medical Genetics. Part A, 2013
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
Janssen A et al.
American Journal of Medical Genetics. Part A, 2013
Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient mice.
McGee-Lawrence ME et al.
The Journal of Biological Chemistry, 2013
Nosology and classification of genetic skeletal disorders: 2010 revision.
Warman ML et al.
American Journal of Medical Genetics. Part A, 2011
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.
Kariminejad A et al.
American Journal of Medical Genetics. Part A, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation.
Yoon WJ et al.
The Journal of Biological Chemistry, 2008
Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese.
Furuichi T et al.
Journal of Human Genetics, 2008
Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.
Wang JC et al.
American Journal of Medical Genetics. Part A, 2007
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.
Bernardini L et al.
American Journal of Medical Genetics. Part A, 2007
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).
Spruijt L et al.
American Journal of Medical Genetics. Part A, 2005
Molecular and cellular bases of syndromic craniosynostoses.
Bonaventure J et al.
Expert Reviews in Molecular Medicine, 2003
The pathogenesis of craniosynostosis in the fetus.
Warren SM et al.
Yonsei Medical Journal, 2001
Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5.
Shirakabe K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2001
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
Wuyts W et al.
Human Molecular Genetics, 2000
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
Wilkie AO et al.
Nature Genetics, 2000
Molecular genetic advances in understanding craniosynostosis.
Robin NH
Plastic and Reconstructive Surgery, 1999
Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: a possible mechanism for MSX2-mediated craniosynostosis in humans.
Liu YH et al.
Developmental Biology, 1999
Structure-function analysis of Msx2-mediated transcriptional suppression.
Newberry EP et al.
Biochemistry, 1997
Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic mice.
Winograd J et al.
Human Molecular Genetics, 1997
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences.
Ma L et al.
Human Molecular Genetics, 1996
Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.
Fonseca RF et al.
Molecular Medicine Reports, 0
Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C et al.
In Vivo (athens, Greece), 0