A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
CM Justice, G Yagnik, Y Kim, I Peter, EW Jabs… - Nature …, 2012 - nature.com
Sagittal craniosynostosis is the most common form of craniosynostosis, affecting
approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome …
approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome …
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
CM Justice, A Cuellar, K Bala, JA Sabourin… - Human genetics, 2020 - Springer
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic
craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this …
craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this …
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is
treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations …
treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations …
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one
or more cranial sutures fuse prematurely. Mutations causing rare syndromic …
or more cranial sutures fuse prematurely. Mutations causing rare syndromic …
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of
the cranial suture between the parietal and occipital bones. Predominantly sporadic, it is the …
the cranial suture between the parietal and occipital bones. Predominantly sporadic, it is the …
Augmentation of Smad‐dependent BMP signaling in neural crest cells causes craniosynostosis in mice
Y Komatsu, PB Yu, N Kamiya, H Pan… - Journal of Bone and …, 2013 - academic.oup.com
Craniosynostosis describes conditions in which one or more sutures of the infant skull are
prematurely fused, resulting in facial deformity and delayed brain development …
prematurely fused, resulting in facial deformity and delayed brain development …
Boston type craniosynostosis: Report of a second mutation in MSX2
JMG Florisson, AJMH Verkerk, D Huigh… - American Journal of …, 2013 - Wiley Online Library
We describe a family that segregated an autosomal dominant form of craniosynostosis
characterized by variable expression and limited extra‐cranial features. Linkage analysis …
characterized by variable expression and limited extra‐cranial features. Linkage analysis …
Monoallelic BMP2 variants predicted to result in haploinsufficiency cause craniofacial, skeletal, and cardiac features overlapping those of 20p12 deletions
Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene
superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology …
superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology …
Mutation screening of candidate genes in patients with nonsyndromic sagittal craniosynostosis
X Ye, A Guilmatre, B Reva, I Peter… - Plastic and …, 2016 - journals.lww.com
Background: Craniosynostosis is a condition that includes the premature fusion of one or
multiple cranial sutures. Among various craniosynostosis forms, sagittal nonsyndromic …
multiple cranial sutures. Among various craniosynostosis forms, sagittal nonsyndromic …
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis
JAC Goos, WK Vogel, H Mlcochova… - Human Molecular …, 2019 - academic.oup.com
Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder
of the skull vault, occurring in approximately 1 in 2250 births. The causes are …
of the skull vault, occurring in approximately 1 in 2250 births. The causes are …