Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

scientific article

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.21079
P698PubMed publication ID19708017

P50authorPeter NürnbergQ2077335
Mark LathropQ6768494
Martin FarrallQ28050051
Gudrun NürnbergQ28320150
Sibel Aylin UgurQ51869786
Muhammad Sajid HussainQ55712643
P2093author name stringJiannis Ragoussis
Nicola K Ragge
Robert J Osborne
J Richard O Collin
Angela Martin
Christian Kluck
Ghazala Mirza
Helen Herbert
Alexander William Wyatt
P2860cites workAnophthalmia and microphthalmiaQ21202957
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationQ24295098
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsQ24299315
Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosageQ24309205
Severe defects in proliferation and differentiation of lens cells in Foxe3 null miceQ24337406
Heterozygous mutations of OTX2 cause severe ocular malformationsQ24530768
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humansQ24669843
GDF6, a novel locus for a spectrum of ocular developmental anomaliesQ24680270
Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5Q27731950
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2Q28118291
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10Q28142971
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomalyQ28252261
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian familyQ28296595
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeQ28306313
Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiationQ28589407
Allegro, a new computer program for multipoint linkage analysisQ29618620
Sequential activation of transcription factors in lens inductionQ30306252
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndromeQ30490281
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataractsQ33931627
Mutations in SOX2 cause anophthalmiaQ34180637
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocorneaQ34282029
A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects.Q34945693
Causes of childhood blindness in the People's Republic of China: results from 1131 blind school students in 18 provincesQ35310908
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiologyQ35438112
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsQ36172165
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysQ36719098
Foxe view of lens development and diseaseQ36753958
A practical guide to the management of anophthalmia and microphthalmiaQ36959894
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaQ43529911
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorderQ47742684
SOX2 anophthalmia syndrome.Q52053221
P433issue10
P304page(s)1378-1386
P577publication date2009-10-01
P1433published inHuman MutationQ5937269
P1476titleSeeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies
P478volume30