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

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

http://www.wikidata.org/entity/Q24564244

about

ALX4 dysfunction disrupts craniofacial and epidermal development The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males Non-SH2/PDZ reverse signaling by ephrins Osteoimmunology: interactions of the bone and immune system Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies Eph-ephrin signaling in nervous system development A Genetic-Pathophysiological Framework for Craniosynostosis The Role of Ephs and Ephrins in Memory Formation Receptor tyrosine kinase signaling: regulating neural crest development one phosphate at a time Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis Development of the upper lip: morphogenetic and molecular mechanisms Eph receptor signalling casts a wide net on cell behaviour EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.An actomyosin-based barrier inhibits cell mixing at compartmental boundaries in Drosophila embryos.CT and MRI of congenital nasal lesions in syndromic conditions.Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis.The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function Ephrin B1 regulates bone marrow stromal cell differentiation and bone formation by influencing TAZ transactivation via complex formation with NHERF1.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.A primary cilia-dependent etiology for midline facial disorders.EphA4 and EfnB2a maintain rhombomere coherence by independently regulating intercalation of progenitor cells in the zebrafish neural keel.Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries.Osteoclasts and odontoclasts: signaling pathways to development and disease.Targeted disruption of ephrin B1 in cells of myeloid lineage increases osteoclast differentiation and bone resorption in mice.X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia.Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Molecular basis of cranial suture biology and disease: Osteoblastic and osteoclastic perspectives Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases.Genetic causes of congenital diaphragmatic hernia Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.Presenilin-dependent intramembrane cleavage of ephrin-B1.Transgenic overexpression of ephrin b1 in bone cells promotes bone formation and an anabolic response to mechanical loading in mice.Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.Learning about the X from our parents

P2860

Q24336580-C490928C-23B3-47BE-9B86-81CF91472775 Q24546616-9FFF1382-71D8-4B13-A3AC-17EDCE0C6B09 Q24629619-78D7E25F-1AAE-4F33-A31E-AAA390D4B818 Q24655113-ACAF2FD3-BB12-4098-AE1B-545C328A1CEF Q24673460-368F48A7-4900-42AD-A0BF-2D69C9EFABB2 Q24675596-DAB0A127-7962-413C-A594-72241C2A7F56 Q26752456-716FCAEB-B613-43A2-B57A-C613AB448731 Q26784240-3BE0BEA0-BC17-442C-8649-C47B8683FCFD Q26786905-6F7C78E4-D7B4-449E-BB97-C04580676734 Q28083779-DB6A6D62-C1EC-4181-895A-B23C5B5EFD13 Q28607705-48995D3D-69F8-4A02-93E6-5D81FAB6CBCB Q28756916-A2CFDB94-CFC3-42E2-B5D2-A31C76D7CECE Q29619988-BCF58D2D-F084-4C7B-A5D0-0DF1486E55DF Q30359872-99C68490-5C8A-4632-8E4C-FAE6BBA542CE Q30577822-F8B7F782-4264-41F6-A18E-AE5BC19A86E7 Q30883695-E4310A23-3A84-4F28-B31C-FBA9E1BB0045 Q33257263-D1B6FB30-A338-484B-87D2-C8D63178F3B5 Q33310098-5A6A6210-9544-4D63-B30D-E82521B9AEDB Q33610885-DBEB267E-4244-4198-BD64-26223D358F38 Q33613966-F7820B68-8266-4608-9E30-93146262D49B Q33654193-13024B66-1B02-428D-BD8D-850835E17801 Q33755851-533C0530-7D15-4C63-98B4-EB7A557C6898 Q33819483-43525F5F-30C2-4417-AF0A-68B87109E7F4 Q33847220-A2740C07-47A7-4570-9E28-BE431C4C4499 Q33894385-F71417B2-36F8-45FB-90ED-320D9E7A4E68 Q33911968-8F8B829A-4CCD-47E3-B21D-8390EE203D45 Q34127484-DE7BFED7-6162-4D7E-9BD7-C109BEC19AAB Q34127948-B6941333-8B5E-4E6D-AFCE-FD0A011D2801 Q34189741-DF64C46C-9C7F-4ABE-B6ED-56923CE6CE67 Q34314330-95E795DB-F5DF-41A4-8468-7605DAB37DD8 Q34323553-5D4C566F-9306-424E-A91D-107DD53A70F7 Q34560898-2AC58457-2D5C-489C-929C-55171925DF57 Q34569351-36B27CA6-F4B8-41EA-A245-0DCB9CBCBC80 Q34657017-859DB432-D151-4509-AB7C-94303A4371ED Q34702033-59EB273A-C407-4564-8F1E-3E154EEB9204 Q34803510-F8FF3C2B-9E52-40B4-BF59-7E1D667C15E6 Q34852601-3C28B9A6-F76B-440B-89A7-17EADA2EF154 Q34878486-EE148EFB-794B-44EA-A67A-B28E45AEF4EB Q34978768-085A7807-DE71-4088-AC10-3D3204BFA681 Q35067109-09F49F7D-27CA-419A-8595-FDB59CC7AF37

P2860

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

http://www.wikidata.org/entity/Q24564244

description

2004 nî lūn-bûn

@nan

2004 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@ast

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@en

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@nl

type

label

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@ast

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@en

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@nl

prefLabel

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@ast

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@en

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@nl

P1433

Q24564244-E2FCAD40-E6DE-4A61-A95B-0C38905ED117

P1476

Q24564244-CDFA1EFC-5BDB-4507-83F4-7B64709913EA

P2093

Q24564244-04DE667A-3149-496B-A04E-32CE4A5A5E01

Q24564244-22165839-87A4-4D22-9FAC-79EAD0BA6011

Q24564244-7ED0BCEE-B773-447B-970E-FFF38A853A3D

Q24564244-D3371A70-3889-439E-BC8D-C0C07C3C1913

P2860

Q24564244-00FF0A7A-B2EB-4275-81D5-AB852E3E6E49

Q24564244-0167BECD-6249-4175-BF04-79AD73DAA3F2

Q24564244-0C8A6520-C016-467E-A9C9-5732868D62B3

Q24564244-0F8CEBA7-36DF-4207-A1CE-8E13BDBAE6DA

Q24564244-31BA75C7-67B8-46D9-A5F9-100840BF3906

Q24564244-412E757A-173A-417F-95A1-EE0E66548FDF

Q24564244-51AA4150-6C0D-4C9C-BE6B-B58CB7F1D308

Q24564244-52C11B28-4BE0-486E-8123-A17F3D9D9AE2

Q24564244-5A6B35DD-4A6E-48FB-A3B5-75CF23A841BC

Q24564244-5E27EEC1-E0B0-4C72-9802-197A8A6B1AA8

P304

Q24564244-8E6514D6-659A-44C5-8B4C-3CB910F8C3C6

P31

Q24564244-FF6E3025-72B9-4B7F-BBB6-4802C84E418C

P3181

Q24564244-F9544F1C-101C-495F-9D85-05392126ACEF

P356

Q24564244-1AF8D9A8-7475-4518-AECA-D9917D29FADC

P407

Q24564244-B3B69FD4-47C5-4769-8F3E-E2FDDE37805D

P433

Q24564244-5DEE199F-A244-4194-9092-C11973E8534B

P478

Q24564244-F4D24885-FDA3-42C5-8885-397FC4D9B815

P50

Q24564244-2C5604B4-289A-404E-A2A7-FF1541014A89

Q24564244-74AA1F1A-0DB1-486E-BECE-8E3ECA057365

Q24564244-99129582-7DA7-4296-8B23-0EF963C1D52C

Q24564244-E0DD2005-3C19-4766-8495-6D2F94B4E097

P577

Q24564244-009A4C4A-7B5F-468B-A145-66D914FDF689

P5875

Q24564244-8FD65C69-40FC-4E9B-AC76-C2328D9B73FD

P698

Q24564244-D8A01D09-7658-4596-A60B-69D3928A18E4

P932

Q24564244-145C466C-7DE1-4FEF-8DC5-C605C41630EA

P3181

P356

PNAS.0402819101

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Mutations of ephrin-B1 (EFNB1) ...... use craniofrontonasal syndrome

@en

P2093

Christian Babbs

http://www.w3.org/2001/XMLSchema#string

Gillian M Morriss-Kay

http://www.w3.org/2001/XMLSchema#string

Rui Kan

http://www.w3.org/2001/XMLSchema#string

Steven A Wall

http://www.w3.org/2001/XMLSchema#string

P2860

Crystal structure of an ephrin ectodomain

Crystal structure of an Eph receptor-ephrin complex

The ephrin VAB-2/EFN-1 functions in neuronal signaling to regulate epidermal morphogenesis in C. elegans

Eph receptors and ephrins: effectors of morphogenesis

Multiple roles of EPH receptors and ephrins in neural development

Eph receptors and ligands comprise two major specificity subclasses and are reciprocally compartmentalized during embryogenesis

Ephrin-B1 forward and reverse signaling are required during mouse development

A first-generation X-inactivation profile of the human X chromosome.

Fibroblast growth factor receptor-mediated rescue of x-ephrin B1-induced cell dissociation in Xenopus embryos

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

P304

8652-7

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

4993202

http://www.w3.org/2001/XMLSchema#string

P356

10.1073/PNAS.0402819101

http://www.w3.org/2001/XMLSchema#string

P407

P433

23

http://www.w3.org/2001/XMLSchema#string

P478

101

http://www.w3.org/2001/XMLSchema#string

P50

Andrew Oliver Mungo Wilkie

Stephen Robertson

Elena G. Bochukova

P577

2004-06-08T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

8540759

http://www.w3.org/2001/XMLSchema#string

P698

15166289

http://www.w3.org/2001/XMLSchema#string

P932

423250

http://www.w3.org/2001/XMLSchema#string