Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typ...

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Bibliografiske detaljer
Main Authors:	Twigg, SR, Kan, R, Babbs, C, Bochukova, E, Robertson, S, Wall, SA, Morriss-Kay, G, Wilkie, A
Format:	Journal article
Sprog:	English
Udgivet:	2004

Lignende værker

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The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
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Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
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The impact of CFNS-causing <it>EFNB1 </it>mutations on ephrin-B1 function
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Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.
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The effect of conditional EFNB1 deletion in the T cell compartment on T cell development and function
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Chin wing osteotomy in a patient with craniofrontonasal dysplasia
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Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
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Functional analysis of natural mutations in two TWIST protein motifs.
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Udgivet: (2005)

EFNB1 drives glioma progression and shapes the immune microenvironment: a potential prognostic biomarker
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Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.
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Bind and separate: how ephrins and their receptors create tissue boundaries.
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EFNB1 levels determine distinct drug response patterns guiding precision therapy for B-cell neoplasms
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Role of EphrinA3 in HIV-1 Neuropathogenesis
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Presenilin-dependent intramembrane cleavage of ephrin-B1
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The Therapeutic Effects of EFNB2-Fc in a Cell Model of Kawasaki Disease
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EphrinB1 and EphrinB2 regulate T cell chemotaxis and migration in experimental autoimmune encephalomyelitis and multiple sclerosis
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Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
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De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
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No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
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Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?
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Hearing loss in a mouse model of Muenke syndrome.
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Interplay of Eph-Ephrin Signalling and Cadherin Function in Cell Segregation and Boundary Formation
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Cortical abnormalities and non-spatial learning deficits in a mouse model of CranioFrontoNasal syndrome.
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