A Genetic-Pathophysiological Framework for Craniosynostosis
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Physiological Changes and Clinical Implications of Syndromic CraniosynostosisSignaling mechanisms implicated in cranial sutures pathophysiology: CraniosynostosisGain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.Effects of In Utero Thyroxine Exposure on Murine Cranial Suture GrowthBone Fusion in Normal and Pathological Development is Constrained by the Network Architecture of the Human SkullActivation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis.A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Understanding craniosynostosis as a growth disorderThe FaceBase Consortium: a comprehensive resource for craniofacial researchers.Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.Diagnostic value of exome and whole genome sequencing in craniosynostosis.Inducible activation of FGFR2 in adult mice promotes bone formation after bone marrow ablation.Craniosynostosis and Resynostosis: Models, Imaging, and Dental Implications.Signaling networks in joint development.Craniosynostosis - Recognition, clinical characteristics, and treatment.Mouse models for the study of cranial base growth and anomalies.A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.An epistatic explanation.Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.Effects of thyroxine exposure on the Twist 1 +/- phenotype: A test of gene-environment interaction modeling for craniosynostosisSyndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.BmpR1A is a major type 1 BMP receptor for BMP-Smad signaling during skull development.Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.Clinical genetics of craniosynostosis.Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.Genetic advances in craniosynostosis.The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.Patent highlights: December 2015-January 2016.Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.Mapping genetic variants for cranial vault shape in humans.Rapamycin rescues BMP mediated midline craniosynostosis phenotype through reduction of mTOR signaling in a mouse modelSingle suture craniosynostosis: Identification of rare variants in genes associated with syndromic formsCrouzon syndrome: Genetic and intervention reviewGenetic associations and phenotypic heterogeneity in the craniosynostotic rabbit
P2860
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P2860
A Genetic-Pathophysiological Framework for Craniosynostosis
description
2015 nî lūn-bûn
@nan
2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
A Genetic-Pathophysiological Framework for Craniosynostosis
@ast
A Genetic-Pathophysiological Framework for Craniosynostosis
@en
A Genetic-Pathophysiological Framework for Craniosynostosis
@nl
type
label
A Genetic-Pathophysiological Framework for Craniosynostosis
@ast
A Genetic-Pathophysiological Framework for Craniosynostosis
@en
A Genetic-Pathophysiological Framework for Craniosynostosis
@nl
prefLabel
A Genetic-Pathophysiological Framework for Craniosynostosis
@ast
A Genetic-Pathophysiological Framework for Craniosynostosis
@en
A Genetic-Pathophysiological Framework for Craniosynostosis
@nl
P2860
P3181
P1476
A Genetic-Pathophysiological Framework for Craniosynostosis
@en
P2860
P304
P3181
P356
10.1016/J.AJHG.2015.07.006
P407
P577
2015-09-03T00:00:00Z