Article

Aberrant cell segregation in craniofacial primordia and the emergence of facial dysmorphology in craniofrontonasal syndrome

2019-07-16

Abstract excerpt

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder characterized by craniofacial, skeletal, and neurological anomalies and caused by mutations in EFNB1 . Heterozygous females are more severely affected by CFNS than hemizygous male patients, a phenomenon called cellular interference that is correlated with cell segregation resulting from EPHRIN-B1 mosaicism. Efnb1 heterozygous mutant mice also exhibit...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 97ad4938-565d-56f7-a22d-f72de5edcb9d
DOI: 10.1101/704619

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Aberrant cell segregation in craniofacial primordia and the emergence of facial dysmorphology in craniofrontonasal syndromeDOI 10.1101/704619Read

Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome.Semantic proximity Read

EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.Semantic proximity Read

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

Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome.Semantic proximity Read

Investigating the effects of compound paralogous EPHB receptor mutations on mouse facial development.Semantic proximity Read

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

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Semantic proximity Read

Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.Semantic proximity Read

Control of skeletal patterning by ephrinB1-EphB interactions.Semantic proximity Read

Craniomaxillofacial morphology in a murine model of ephrinB1 conditional deletion in osteoprogenitor cells.Semantic proximity Read

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.Semantic proximity Read

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.Semantic proximity Read