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 …
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 …
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 …
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 …
Urogenital system development in mammals requires the coordinated differentiation of two distinct tissues, the ductal epithelium and the nephrogenic mesenchyme, both derived from …
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 …
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 …
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 …
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 …