Understanding craniosynostosis as a growth disorder

A Genetic-Pathophysiological Framework for Craniosynostosis

(2015) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

(2015) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development

(2015) Greg Holmes et al.   GENE EXPRESSION PATTERNS

The suture provides a niche for mesenchymal stem cells of craniofacial bones

(2015) Hu Zhao et al.   NATURE CELL BIOLOGY

Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families

(2015) HM. Junior et al.   Medicina Oral Patologia Oral y Cirugia Bucal

Craniofacial Shape Variation inTwist1+/−Mutant Mice

(2014) Trish E. Parsons et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes

(2014) Yann Heuzé et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice

(2014) Susan M Motch Perrine et al.   BMC DEVELOPMENTAL BIOLOGY

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

(2014) Beatriz Paumard-Hernández et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

(2014) Banu G. Nur et al.   PEDIATRIC NEUROLOGY

A Ser252Trp Mutation in Fibroblast Growth Factor Receptor 2 (FGFR2) Mimicking Human Apert Syndrome Reveals an Essential Role for FGF Signaling in the Regulation of Endochondral Bone Formation

(2014) Peng Chen et al.   PLoS One

Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation

(2014) L. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolutionary innovation and conservation in the embryonic derivation of the vertebrate skull

(2014) Nadine Piekarski et al.   Nature Communications

Chondrocytes Transdifferentiate into Osteoblasts in Endochondral Bone during Development, Postnatal Growth and Fracture Healing in Mice

(2014) Xin Zhou et al.   PLoS Genetics

Development and evolution of the pharyngeal apparatus

(2014) Aude Frisdal et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Hand in glove: brain and skull in development and dysmorphogenesis

(2013) Joan T. Richtsmeier et al.   ACTA NEUROPATHOLOGICA

Angiogenesis and intramembranous osteogenesis

(2013) Christopher J. Percival et al.   DEVELOPMENTAL DYNAMICS

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome

(2013) N. Martinez-Abadias et al.   Disease Models & Mechanisms

FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome

(2013) Chayanin Chokdeemboon et al.   JOURNAL OF CRANIOFACIAL SURGERY

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

(2013) Stephen R F Twigg et al.   NATURE GENETICS

Filling in the gaps in cranial suture biology

(2013) David R FitzPatrick   NATURE GENETICS

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

(2013) Vikram P Sharma et al.   NATURE GENETICS

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE MEDICINE

Phenotype profile of a genetic mouse model for Muenke syndrome

(2012) Hyun-Duck Nah et al.   CHILDS NERVOUS SYSTEM

Mouse models of Apert syndrome

(2012) Greg Holmes   CHILDS NERVOUS SYSTEM

The Fgfr2 W290R mouse model of Crouzon syndrome

(2012) S.-G. Gong   CHILDS NERVOUS SYSTEM

Regulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1

(2012) R. A. Deckelbaum et al.   DEVELOPMENT

Tissue-specific responses to aberrant FGF signaling in complex head phenotypes

(2012) Neus Martínez-Abadías et al.   DEVELOPMENTAL DYNAMICS

Models of Cranial Suture Biology

(2012) Monica Grova et al.   JOURNAL OF CRANIOFACIAL SURGERY

Changing Epidemiology of Nonsyndromic Craniosynostosis and Revisiting the Risk Factors

(2012) Hui Qing Lee et al.   JOURNAL OF CRANIOFACIAL SURGERY

Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis

(2012) Yann Heuzé et al.   JOURNAL OF EXPERIMENTAL ZOOLOGY PART B-MOLECULAR AND DEVELOPMENTAL EVOLUTION

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

(2012) Cristina M Justice et al.   NATURE GENETICS

Syndromic Craniosynostosis

(2012) Christopher Derderian et al.   Seminars in Plastic Surgery

Facial suture synostosis of newborn Fgfr1P250R/+ and Fgfr2S252W/+ mouse models of Pfeiffer and Apert syndromes

(2011) Roopa Purushothaman et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Early onset of Runx2 expression caused craniosynostosis, ectopic bone formation, and limb defects

(2011) Takafumi Maeno et al.   BONE

Atypical Crouzon Syndrome with a Novel Cys62Arg Mutation in FGFR2 Presenting with Sagittal Synostosis

(2011) Vikram P. Sharma et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Mechanisms that underlie co-variation of the brain and face

(2011) Ralph S. Marcucio et al.   GENESIS

Building strong bones: molecular regulation of the osteoblast lineage

(2011) Fanxin Long   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Eph/ephrin signaling: Genetic, phosphoproteomic, and transcriptomic approaches

(2011) Jeffrey O. Bush et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Craniosynostosis of Coronal Suture in Twist1+/− Mice Occurs Through Endochondral Ossification Recapitulating the Physiological Closure of Posterior Frontal Suture

(2011) Björn Behr et al.   Frontiers in Physiology

Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis

(2010) Heather C. Mefford et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R mice

(2010) Yingli Wang et al.   BMC DEVELOPMENTAL BIOLOGY

The primary site of the acrocephalic feature in Apert syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling

(2010) Masaki Nagata et al.   BONE

Osteoblast physiology in normal and pathological conditions

(2010) Anna Neve et al.   CELL AND TISSUE RESEARCH

The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling

(2010) S. Mai et al.   DEVELOPMENTAL DYNAMICS

Brain phenotypes in two FGFR2 mouse models for Apert syndrome

(2010) Kristina Aldridge et al.   DEVELOPMENTAL DYNAMICS

Beyond the closed suture in apert syndrome mouse models: Evidence of primary effects of FGFR2 signaling on facial shape at birth

(2010) Neus Martínez-Abadías et al.   DEVELOPMENTAL DYNAMICS

Pivotal role of Twist in skeletal biology and pathology

(2010) Hichem Miraoui et al.   GENE

Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries

(2010) J. O. Bush et al.   GENES & DEVELOPMENT

DOMINANT ACROCEPHALOSYNDACTYLY

(2010) OTTO L. MOHR   HEREDITAS

Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation

(2010) D. P. C. Rice et al.   HUMAN MOLECULAR GENETICS

Cranial sutures require tissue interactions with dura mater to resist osseous obliteration in vitro

(2010) Lynne A. Opperman et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Signaling networks in RUNX2-dependent bone development

(2010) Toshihisa Komori   JOURNAL OF CELLULAR BIOCHEMISTRY

The evolution of surgical management for craniosynostosis

(2010) Vivek A. Mehta et al.   Neurosurgical Focus

Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

(2010) A. O. M. Wilkie et al.   PEDIATRICS

What are genes “for” or where are traits “from”? What is the question?

(2009) Anne V. Buchanan et al.   BIOESSAYS

EphA4 as an effector of Twist1 in the guidance of osteogenic precursor cells during calvarial bone growth and in craniosynostosis

(2009) M.-C. Ting et al.   DEVELOPMENT

Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology

(2009) Greg Holmes et al.   DEVELOPMENTAL BIOLOGY

Evolution in the frequency of nonsyndromic craniosynostosis

(2009) Federico Di Rocco et al.   Journal of Neurosurgery-Pediatrics

The FGF family: biology, pathophysiology and therapy

(2009) Andrew Beenken et al.   NATURE REVIEWS DRUG DISCOVERY

Cranial Sutures: A Brief Review

(2009) Bethany J. Slater et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Reoperation for Intracranial Hypertension in TWIST1-Confirmed Saethre-Chotzen Syndrome: A 15-Year Review

(2009) Roger H. Woods et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

The evolution of hominin ontogenies

(2009) Christoph P.E. Zollikofer et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003

(2008) Sheree L. Boulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extracellular point mutations in FGFR2 result in elevated ERK1/2 activation and perturbation of neuronal differentiation

(2008) Annika C. Schüller et al.   BIOCHEMICAL JOURNAL

Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure

(2008) Jeannette Connerney et al.   DEVELOPMENTAL BIOLOGY

Review of fate-mapping studies of osteogenic cranial neural crest in vertebrates

(2008) Joshua B. Gross et al.   DEVELOPMENTAL BIOLOGY

Development and tissue origins of the mammalian cranial base

(2008) B. McBratney-Owen et al.   DEVELOPMENTAL BIOLOGY

Skeletal analysis of the Fgfr3P244R mouse, a genetic model for the Muenke craniosynostosis syndrome

(2008) Stephen R. F. Twigg et al.   DEVELOPMENTAL DYNAMICS

BMP2 Regulates Osterix through Msx2 and Runx2 during Osteoblast Differentiation

(2008) Takuma Matsubara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Developmental Constraints on Vertebrate Genome Evolution

(2008) Julien Roux et al.   PLoS Genetics

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

(2007) Liangjun Yin et al.   BONE