scholarly article | Q13442814 |
P50 | author | Charles C Searby | Q37381740 |
Jamie E Craig | Q82048083 | ||
P2093 | author name string | S R Patil | |
V C Sheffield | |||
K Kawase | |||
D A Mackey | |||
D Walton | |||
A B Kanis | |||
E M Stone | |||
W L Alward | |||
C C Searby | |||
D Y Nishimura | |||
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Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21 | Q24312705 | ||
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma | Q24534513 | ||
A second locus for Rieger syndrome maps to chromosome 13q14 | Q24675472 | ||
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25 | Q24675534 | ||
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly | Q24678041 | ||
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25 | Q24678473 | ||
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25 | Q28138412 | ||
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects | Q28240060 | ||
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 | Q28273225 | ||
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome | Q28298470 | ||
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development | Q28587111 | ||
The genetics of open-angle glaucoma: the story of GLC1A and myocilin. | Q34057609 | ||
Identification of a gene that causes primary open angle glaucoma. | Q34414141 | ||
Number of people with glaucoma worldwide | Q37320324 | ||
The two-exon gene of the human forkhead transcription factor FREAC-2 (FKHL6) is located at 6p25.3. | Q38331766 | ||
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations | Q46636264 | ||
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities | Q48964218 | ||
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? | Q52191298 | ||
Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel | Q58005072 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 364-72 | |
P577 | publication date | 2001-02-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye | |
P478 | volume | 68 |
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Q34994800 | Copy number variations on chromosome 12q14 in patients with normal tension glaucoma |
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Q35959200 | Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders |
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Q42003277 | Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients |
Q41003401 | Effects of targeted silencing of FOXC1 gene on proliferation and in vitro migration of human non-small-cell lung carcinoma cells |
Q94216640 | Erratum |
Q24300719 | Essential structural and functional determinants within the forkhead domain of FOXC1 |
Q49624286 | FOXC1 in cancer development and therapy: deciphering its emerging and divergent roles |
Q36390833 | FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25. |
Q24292130 | FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain |
Q24293410 | FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner |
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Q28975742 | FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 |
Q48282355 | FOXP2 in focus: what can genes tell us about speech and language? |
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Q40639128 | FoxC1 is essential for vascular basement membrane integrity and hyaloid vessel morphogenesis |
Q28586533 | Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene |
Q24302555 | Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis |
Q24680270 | GDF6, a novel locus for a spectrum of ocular developmental anomalies |
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Q34693080 | Genetic and genomic analysis of classic aniridia in Saudi Arabia. |
Q34542327 | Genetic effects on human cognition: lessons from the study of mental retardation syndromes |
Q48556501 | Genetic eye research in Tasmania: a historical overview |
Q36571645 | Genetics of anterior segment dysgenesis disorders |
Q21283801 | Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure |
Q54532643 | Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. |
Q29147498 | Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability |
Q36149134 | Inherited corneal disease: the evolving molecular, genetic and imaging revolution |
Q33938801 | Long-range control of gene expression: emerging mechanisms and disruption in disease |
Q35663810 | Loss of Foxm1 Results in Reduced Somatotrope Cell Number during Mouse Embryogenesis |
Q78384269 | Lymphedema-distichiasis syndrome and FOXC2 gene mutation |
Q39303267 | Major review: Molecular genetics of primary open-angle glaucoma |
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Q37269809 | Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies |
Q24300224 | Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly |
Q34017922 | Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. |
Q37678803 | Mouse models of cataract. |
Q28910384 | Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis |
Q90283450 | Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma |
Q37419378 | Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. |
Q35539873 | Ophthalmic genetics/inherited eye disease |
Q51106670 | Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. |
Q57775043 | Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1 |
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Q63614912 | Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis |
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Q34760609 | Regulation of the FoxO family of transcription factors by phosphatidylinositol-3 kinase-activated signaling |
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Q24300742 | Structure of the forkhead domain of FOXP2 bound to DNA |
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Q35591712 | The genetic and molecular basis of congenital eye defects |
Q46545730 | The homeobox gene Six3 is a potential regulator of anterior segment formation in the chick eye. |
Q50932609 | The role of FoxC1 in early Xenopus development. |
Q27346257 | Zebrafish foxc1a drives appendage-specific neural circuit development. |