[HTML][HTML] Cell fate decisions, transcription factors and signaling during early retinal development

R Diacou, P Nandigrami, A Fiser, W Liu… - Progress in retinal and …, 2022 - Elsevier
The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …

Genetic, environmental, and epigenetic factors involved in CAKUT

N Nicolaou, KY Renkema, EMHF Bongers… - Nature Reviews …, 2015 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of
structural renal malformations and are the leading cause of end-stage renal disease in …

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu… - Nature …, 2019 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues

J Ernst, M Kellis - Nature biotechnology, 2015 - nature.com
With hundreds of epigenomic maps, the opportunity arises to exploit the correlated nature of
epigenetic signals, across both marks and samples, for large-scale prediction of additional …

Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract

AT Van Der Ven, DM Connaughton, H Ityel… - Journal of the …, 2018 - journals.lww.com
Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …

Pax-2 controls multiple steps of urogenital development

M Torres, E Gómez-Pardo, GR Dressler… - …, 1995 - journals.biologists.com
Urogenital system development in mammals requires the coordinated differentiation of two
distinct tissues, the ductal epithelium and the nephrogenic mesenchyme, both derived from …

A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye.

AT Dudley, KM Lyons, EJ Robertson - Genes & development, 1995 - genesdev.cshlp.org
BMP-7/OP-1, a member of the transforming growth factor-beta (TGF-beta) family of secreted
growth factors, is expressed during mouse embryogenesis in a pattern suggesting potential …

Waardenburg syndrome.

AP Read, VE Newton - Journal of medical genetics, 1997 - jmg.bmj.com
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the
skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with …

Early eye development in vertebrates

RL Chow, RA Lang - Annual review of cell and developmental …, 2001 - annualreviews.org
▪ Abstract This review provides a synthesis that combines data from classical
experimentation and recent advances in our understanding of early eye development …

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

EV Semina, R Reiter, NJ Leysens, WLM Alward… - Nature …, 1996 - nature.com
Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies
of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report …