Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …

Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina,
lens, iris, or optic nerve tissue. With a prevalence of 2–19 per 100,000 live births, coloboma …

The genetic basis of human facial variation and craniofacial birth defects remains poorly
understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal …

Anophthalmia and microphthalmia (A/M) are among the most severe congenital
developmental eye disorders. Despite the advancements in genome screening …

Recent studies have found that the acetaldehyde dehydrogenase 1A3 (ALDH1A3) gene is a
marker of glioma stem cells. A total of 115 brain glioma specimens were collected and …

The liver maintains important homeostatic functions such as metabolism and detoxification.
Failure to remove toxic intermediates can cause hepatic damage, liver fibrosis, and even …

Ocular developmental anomalies are among the most common causes of severe visual
impairment in newborns (combined incidence 1–2: 10,000). They comprise a wide range of …

Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of
recessively inherited cases of severe developmental eye anomalies. Some individuals can …

Aldehyde dehydrogenase 1 isoforms A1 and A3 have been implicated as functional
biomarkers associated with distinct molecular subtypes of glioblastoma and glioblastoma …

Microphthalmia (MCOP) is a group of rare developmental malformations of eye with often
reduced size of the eyeball, leading to blindness. Affecting about 1 in 7000 live births, MCOP …