About: Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

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About: Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	artículu científicu espublizáu en 2000 (ast) vědecký článek publikovaný v roce 2000 (cs) 2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած (hyw) wüsseschaftlicher Artikel, wo im April 2000 veröffentlicht worden isch (gsw) 2000 թվականի ապրիլին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована у квітні 2000 (uk) im April 2000 veröffentlichter wissenschaftlicher Artikel (de) scientific journal article (en) wetenschappelijk artikel (gepubliceerd op 2000/04/12) (nl) vedecký článok (publikovaný 2000/04/12) (sk) مقالة علمية (نشرت في 12-4-2000) (ar)
publication date	wds:Q28587111-3B9B6C8A-32B1-439A-A486-D8821AE9E265
publication date	2000-04-12 00:00:00Z (xsd:dateTime)
author name string	wds:Q28587111-659EC5BB-26FC-4B53-9E1F-C77F43524BA2 wds:Q28587111-665F74D3-D05D-4CE7-9C99-CFC23F78D19B wds:Q28587111-6B224183-A994-4E5D-A611-4FD7A7EDEE04 wds:Q28587111-7205361F-C2AC-431D-BC64-9C8E8A0BFEB8 wds:Q28587111-77389051-EF97-4F9C-8896-9351B6B28E20 wds:Q28587111-7CDEA76E-07EA-46A4-A2D6-EC48B48A9B48 wds:Q28587111-80115B26-EEF1-4804-B844-8CA9B8334A51 wds:Q28587111-8BD21E90-5BAC-4908-8663-8D9FE1E71DC4 wds:Q28587111-9852EDF9-BB1A-44A5-BB86-049698F1E906 wds:Q28587111-C7A17905-72B7-4E84-B6F7-6306440852E5
OpenCitations bibliographic resource ID	wds:Q28587111-A4D67857-01D1-49A9-A077-43ACEC35F3B9
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/1513939
author name string	D. Y. Nishimura B. L. Hogan J. E. Martin R. S. Smith T. Kume A. Zabaleta S. H. Kidson S. W. John O. V. Savinova W. L. Alward
OpenCitations bibliographic resource ID	1513939
rdfs:label	Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (en) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (nl) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (ast)
skos:prefLabel	Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (en) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (nl) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (ast)
name	Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (en) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (nl) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (ast)
title	wds:Q28587111-F5B510BC-2AB2-413D-9909-7BE51754DDAB
title	Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development (en)
page(s)	wds:Q28587111-0A86EEB6-A1E1-49A3-AD69-AC693CB8043C
page(s)	1021–1032
instance of	wds:Q28587111-12A0F9A1-6E6E-449B-88FF-3A1FF6126825
instance of	scholarly article
main subject	wds:Q28587111-32344C4E-13DD-4F51-A8E6-4DB62E643B39 wds:Q28587111-8A65C106-8843-416E-8A9B-36680AC4708A wds:Q28587111-D1BBF9C0-4EEA-48C2-8525-E7B416D41974
main subject	haploinsufficiency Forkhead box C2 Forkhead box C1
PubMed ID	wds:Q28587111-037E18DD-C94C-45EC-B61A-85EBE050D081
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10767326
PubMed ID	10767326
published in	wds:Q28587111-05927324-3333-4585-961D-4B948B8021A9
published in	Human Molecular Genetics
issue	wds:Q28587111-443718ED-43F5-43B7-8713-CAD2AE41024B
volume	wds:Q28587111-CE519F5E-2580-424B-8461-290E3C99DCC3
issue	7
volume	9
DOI	wds:Q28587111-376CAFB1-D3F4-4E72-8234-E718377A1AF6
DOI	http://dx.doi.org/10.1093/HMG/9.7.1021
DOI	10.1093/HMG/9.7.1021
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28587111
is cites work of	Glaucoma: genes, phenotypes, and new directions for therapy Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. Identification of ciliary epithelial-specific genes using subtractive libraries and cDNA arrays in the avian eye. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Cardiac malformations and midline skeletal defects in mice lacking filamin A. Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye Eye development Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations Genomics and anterior segment dysgenesis: a review Severe defects in proliferation and differentiation of lens cells in Foxe3 null mice Muscle development: forming the head and trunk muscles. Regulation of the FoxO family of transcription factors by phosphatidylinositol-3 kinase-activated signaling The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis Rodent models of glaucoma. MYOC and FOXC1 gene analysis in primary congenital glaucoma. Glaucoma genetics FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate Signaling "cross-talk" is integrated by transcription factors in the development of the anterior segment in the eye. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1 Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome A forkhead-domain gene is mutated in a severe speech and language disorder

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