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...

ver descrição completa

Detalhes bibliográficos
Principais autores:	Twigg, SR, Kan, R, Babbs, C, Bochukova, E, Robertson, S, Wall, SA, Morriss-Kay, G, Wilkie, A
Formato:	Journal article
Idioma:	English
Publicado em:	2004

Registros relacionados

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
por: van den Elzen, M, et al.
Publicado em: (2014)

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
por: Van Den Elzen, M, et al.
Publicado em: (2014)

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
por: Vasudevan, P, et al.
Publicado em: (2006)

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
por: Twigg, SR, et al.
Publicado em: (2006)

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
por: Babbs, C, et al.
Publicado em: (2011)

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
por: Twigg, SR, et al.
Publicado em: (2013)

Craniofrontonasal syndrome caused by introduction of a novel uATG in the 5′UTR of EFNB1
por: Tavares, VL, et al.
Publicado em: (2018)

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome
por: M. A. Ramirez-Garcia, et al.
Publicado em: (2013-01-01)

The impact of CFNS-causing <it>EFNB1 </it>mutations on ephrin-B1 function
por: Wieacker Peter, et al.
Publicado em: (2010-06-01)

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
por: Ewelina Bukowska-Olech, et al.
Publicado em: (2021-06-01)

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
por: Harry Pachajoa, et al.
Publicado em: (2023-01-01)

Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome.
por: Alice Davy, et al.
Publicado em: (2006-10-01)

Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity?
por: Sebla Güneş, et al.
Publicado em: (2022-12-01)

EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells
por: Terren K. Niethamer, et al.
Publicado em: (2017-03-01)

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.
por: Merrill, A, et al.
Publicado em: (2006)

Reduced blood pressure after smooth muscle EFNB2 deletion and the potential association of EFNB2 mutation with human hypertension risk
por: Woodward, M, et al.
Publicado em: (2016)

Craniofrontonasal dysplasia: A case report
por: Kanad Ghosh, et al.
Publicado em: (2023-06-01)

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum
por: Ying Jiang, et al.
Publicado em: (2019-11-01)

Craniofrontonasal dysplasia syndrome: A rare case
por: Biswajit Biswas, et al.
Publicado em: (2015-01-01)

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.
por: Twigg, SR, et al.
Publicado em: (2009)

The effect of conditional EFNB1 deletion in the T cell compartment on T cell development and function
por: Jin Wei, et al.
Publicado em: (2011-12-01)

Chin wing osteotomy in a patient with craniofrontonasal dysplasia
por: L. Verstraete, et al.
Publicado em: (2020-09-01)

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
por: Bochukova, E, et al.
Publicado em: (2010)

Functional analysis of natural mutations in two TWIST protein motifs.
por: Funato, N, et al.
Publicado em: (2005)

EFNB1 drives glioma progression and shapes the immune microenvironment: a potential prognostic biomarker
por: Yungui Zheng, et al.
Publicado em: (2025-02-01)

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.
por: Babbs, C, et al.
Publicado em: (2008)

Bind and separate: how ephrins and their receptors create tissue boundaries.
por: Richard Robinson
Publicado em: (2014-09-01)

EFNB1 levels determine distinct drug response patterns guiding precision therapy for B-cell neoplasms
por: Xiaoxi Li, et al.
Publicado em: (2024-01-01)

Role of EphrinA3 in HIV-1 Neuropathogenesis
por: Chitra Mohinder Singh Singal, et al.
Publicado em: (2021-10-01)

Presenilin-dependent intramembrane cleavage of ephrin-B1
por: Tomita Taisuke, et al.
Publicado em: (2006-06-01)

The Therapeutic Effects of EFNB2-Fc in a Cell Model of Kawasaki Disease
por: Yijing Tao, et al.
Publicado em: (2023-03-01)

EphrinB1 and EphrinB2 regulate T cell chemotaxis and migration in experimental autoimmune encephalomyelitis and multiple sclerosis
por: Hongyu Luo, et al.
Publicado em: (2016-07-01)

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
por: Kan, R, et al.
Publicado em: (2004)

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
por: Ji Yoon Han, et al.
Publicado em: (2020-09-01)

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
por: Babbs, C, et al.
Publicado em: (2014)

No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
por: Iman Ibrahim, et al.
Publicado em: (2023-05-01)

Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?
por: Celal Kilit, et al.

Hearing loss in a mouse model of Muenke syndrome.
por: Mansour, S, et al.
Publicado em: (2009)

Interplay of Eph-Ephrin Signalling and Cadherin Function in Cell Segregation and Boundary Formation
por: David G. Wilkinson
Publicado em: (2021-11-01)

Cortical abnormalities and non-spatial learning deficits in a mouse model of CranioFrontoNasal syndrome.
por: Dina N Arvanitis, et al.
Publicado em: (2014-01-01)