Sort   by:  
 Page size 
GenomicsWhole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).
The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome seq...
EGAS00001002193 | EGA
GenomicsEssential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma
Malignant melanoma is an aggressive cancer known for its notorious resistance to most current therapies. The basic helix-loop-helix microphthalmia transcription factor (MITF) is the master regulator determining the identity and properties of the melanocyte lineage, and is regarded as a lineage-speci...
ORGANISM(S): Homo sapiens 
2014-12-13 | E-GEOD-64137 | biostudies-arrayexpress
TranscriptomicsMeis1 coordinates a network of genes implicated in eye development and microphthalmia
Microphthalmos is a rare congenital anomaly characterized by reduced eye size and visual deficits of variable degrees. Sporadic and hereditary microphthalmos has been associated to heterozygous mutations in genes fundamental for eye development. Yet, many cases are idiopathic or await the identifica...
ORGANISM(S): Mus musculus 
2015-08-27 | E-GEOD-62786 | biostudies-arrayexpress
ProteomicsInsights into the FOXE3 Transcriptional Network from Exploration of the Impact of a Regulatory Variant in Complex Microphthalmia
FOXE3 encodes a highly conserved transcription factor essential for lens development, which is critical for proper eye formation. Biallelic variants in FOXE3 are associated with ocular anomalies, particularly complex microphthalmia (CM), characterized by defects in both the anterior segment and lens...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2025-08-25 | PXD058162 | Pride
Foxe3 Microphthalmia 
TranscriptomicsComparing the effects of MITF on transcriptional regulation to the TEN1-ICD
We identified histidine triad nucleotide binding protein 1 (HINT1) as a human teneurin-1 ICD interaction partner in a yeast-2 hybrid screen. This interaction was confirmed in human cells, where HINT1 is known to inhibit the transcription of target genes by directly binding to transcription factors a...
ORGANISM(S): Homo sapiens 
2015-02-04 | E-GEOD-61705 | biostudies-arrayexpress
Genomicsena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
EGAD00001003130 | EGA
TranscriptomicsEyeless: Pitx3 mutant mouse line, Expression profiling of liver
A new mouse mutant arose spontaneously at the 5th inbred generation in a congenic C3H/He line. Since the mice suffered from anophthalmia or microphthalmia, we referred to this new mutant as eyeless (provisional gene symbol: eyl). The mutation follows an autosomal recessive pattern of inheritance and...
ORGANISM(S): Mus musculus 
2010-05-19 | E-GEOD-15336 | biostudies-arrayexpress
Transcriptomics2CdA-induced microphthalmia
In this dose series pregnant CD-1 (outbred) dams were exposed to the 2-chloro analogue of 2'-deoxyadenosine (a metabolic toxin) on 8 d.p.c. Test doses were developed from a teratological series for 2CdA-induced microphthalmia using BMDS modeling software from the US EPA. Benchmark doses for microarr...
ORGANISM(S): Mus musculus 
2004-03-11 | GSE1068 | GEO
UnknownNAA10 polyadenylation signal variants cause syndromic microphthalmia.
Not available
S-EPMC7032957 | biostudies-literature
UnknownAnophthalmia and microphthalmia.
Not available
S-EPMC2246098 | biostudies-literature
Sort   by:  
 Page size