Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas… - Human Genetics, 2019 - Springer
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 …

Genes and pathways in optic fissure closure

A Patel, JC Sowden - Seminars in Cell & Developmental Biology, 2019 - Elsevier
Embryonic development of the vertebrate eye begins with the formation of an optic vesicle
which folds inwards to form a double-layered optic cup with a fissure on the ventral surface …

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

A Slavotinek - Human genetics, 2019 - Springer
As new genes for A/M are identified in the genomic era, the number of syndromes
associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the …

An update on the genetics of ocular coloboma

AS ALSomiry, CY Gregory-Evans, K Gregory-Evans - Human genetics, 2019 - Springer
Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be
identified from birth. This congenital anomaly is thought to be caused by maldevelopment of …

[HTML][HTML] YAP1 regulates the self-organized fate patterning of hESC-derived gastruloids

E Stronati, S Giraldez, L Huang, E Abraham… - Stem cell reports, 2022 - cell.com
The gastrulation process relies on complex interactions between developmental signaling
pathways that are not completely understood. Here, we interrogated the contribution of the …

Hippo‐yap signaling in ocular development and disease

M Lee, N Goraya, S Kim, SH Cho - Developmental Dynamics, 2018 - Wiley Online Library
ABSTRACT The Hippo‐Yes associated protein (Yap) pathway plays an important role in
organ size control by regulating cell proliferation, apoptosis, and stem cell renewal. Hippo …

Safety considerations in the development of hippo pathway inhibitors in cancers

S Kakiuchi-Kiyota, MM Schutten, Y Zhong… - Frontiers in cell and …, 2019 - frontiersin.org
The Hippo pathway is a critical regulator of cell and organ growth and has emerged as a
target for therapeutic intervention in cancers. Its signaling is thought to play an important role …

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

LM Reis, N Chassaing, T Bardakjian… - European Journal of …, 2023 - nature.com
ARHGAP35 has known roles in cell migration, invasion and division, neuronal
morphogenesis, and gene/mRNA regulation; prior studies indicate a role in cancer in …

Routine diagnostics confirm novel neurodevelopmental disorders

RT Jauss, S Schließke, R Abou Jamra - Genes, 2022 - mdpi.com
Routine diagnostics is biased towards genes and variants with satisfactory evidence, but
rare disorders with only little confirmation of their pathogenicity might be missed. Many of …

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina

N Owen, M Toms, Y Tian, L Toualbi… - The Journal of …, 2023 - Wiley Online Library
The crumbs cell polarity complex plays a crucial role in apical–basal epithelial polarity,
cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in …