SNPs in microRNA target sites and their potential role in human disease

A Moszyńska, M Gebert, JF Collawn… - Open …, 2017 - royalsocietypublishing.org
In the post-genomic era, the goal of personalized medicine is to determine the correlation
between genotype and phenotype. Developing high-throughput genotyping technologies …

The genetics and pathogenesis of CAKUT

CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …

Developmental genetics of the female reproductive tract in mammals

A Kobayashi, RR Behringer - Nature Reviews Genetics, 2003 - nature.com
The female reproductive tract receives the oocytes for fertilization, supports the development
of the fetus and provides the passage for birth. Although abnormalities of this organ system …

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

A Vivante, S Kohl, DY Hwang, GC Dworschak… - Pediatric …, 2014 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of
structural malformations that result from defects in the morphogenesis of the kidney and/or …

Differentiation of embryonic stem cells is induced by GATA factors

J Fujikura, E Yamato, S Yonemura… - Genes & …, 2002 - genesdev.cshlp.org
Extraembryonic endoderm (ExE) is differentiated from the inner cell mass of the late
blastocyst-stage embryo to form visceral and parietal endoderm, both of which have an …

Genetics of congenital anomalies of the kidney and urinary tract: the current state of play

VP Capone, W Morello, F Taroni, G Montini - International journal of …, 2017 - mdpi.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of
malformation at birth and represent the cause of 40–50% of pediatric and 7% of adult end …

Mutations in hepatocyte nuclear factor-1β and their related phenotypes

EL Edghill, C Bingham, S Ellard… - Journal of medical …, 2006 - jmg.bmj.com
Background: Hepatocyte nuclear factor-1 beta (HNF-1β) is a widely distributed transcription
factor which plays a critical role in embryonic development of the kidney, pancreas, liver …

Molecular genetics of Müllerian duct formation, regression and differentiation

RD Mullen, RR Behringer - Sexual Development, 2014 - karger.com
The Müllerian duct (MD) forms the female reproductive tract (FRT) consisting of the oviducts,
uterus, cervix, and upper vagina. FRT function is vital to fertility, providing the site of …

Monogenic diabetes: what it teaches us on the common forms of type 1 and type 2 diabetes

Y Yang, L Chan - Endocrine reviews, 2016 - academic.oup.com
To date, more than 30 genes have been linked to monogenic diabetes. Candidate gene and
genome-wide association studies have identified> 50 susceptibility loci for common type 1 …

On the origin of the β cell

JM Oliver-Krasinski, DA Stoffers - Genes & development, 2008 - genesdev.cshlp.org
The major forms of diabetes are characterized by pancreatic islet β-cell dysfunction and
decreased β-cell numbers, raising hope for cell replacement therapy. Although human islet …