Regulation of masculinization: androgen signalling for external genitalia development

S Matsushita, K Suzuki, A Murashima, D Kajioka… - Nature Reviews …, 2018 - nature.com
The biology of masculinization is fundamentally important for understanding the embryonic
developmental processes that are involved in the development of the male reproductive …

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract

DM Connaughton, F Hildebrandt - American Journal of Medical …, 2022 - Wiley Online Library
Abstract Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is a developmental
disorder of the kidney and/or genito‐urinary tract that results in end stage kidney disease …

Exome sequencing and identification of phenocopies in patients with clinically presumed hereditary nephropathies

KM Riedhammer, MC Braunisch, R Günthner… - American journal of …, 2020 - Elsevier
Rationale & Objective Hereditary nephropathies are clinically and genetically
heterogeneous disorders. For some patients, the clinical phenotype corresponds to a …

A SHH-FOXF1-BMP4 signaling axis regulating growth and differentiation of epithelial and mesenchymal tissues in ureter development

T Bohnenpoll, AB Wittern, TM Mamo, AC Weiss… - PLoS …, 2017 - journals.plos.org
The differentiated cell types of the epithelial and mesenchymal tissue compartments of the
mature ureter of the mouse arise in a precise temporal and spatial sequence from …

[HTML][HTML] Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome

L Li, C Chu, S Li, D Lu, P Zheng, J Sheng, LJ Luo… - Fertility and …, 2021 - Elsevier
Objective To explore the genetic causes of Herlyn-Werner-Wunderlich syndrome (HWWS)
using whole-exome sequencing. Design Retrospective genetic study. Setting Academic …

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

ET Allred, EA Perens, NG Coufal… - Frontiers in …, 2023 - frontiersin.org
Background Congenital heart defects (CHD) and congenital anomalies of the kidney and
urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of …

Impact of next generation sequencing on our understanding of CAKUT

A Nigam, NVAM Knoers, KY Renkema - Seminars in Cell & Developmental …, 2019 - Elsevier
Congenital abnormalities of the kidney and urinary tract (CAKUT) form the leading cause of
pediatric end-stage renal disease. Knowledge on the molecular mechanisms that underlie …

Congenital heart defects and ciliopathies associated with renal phenotypes

GC Gabriel, GJ Pazour, CW Lo - Frontiers in pediatrics, 2018 - frontiersin.org
Congenital heart disease (CHD) is one of the most common birth defects, and recent studies
indicate cilia-related mutations play a central role in the genetic etiology of CHD. As cilia are …

The genetic etiologies of bilateral renal agenesis

GW Kirschen, K Blakemore, HB Al‐Kouatly… - Prenatal …, 2024 - Wiley Online Library
Objective The goal of this study was to review and analyze the medical literature for cases of
prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a …

Modeling podocyte ontogeny and podocytopathies with the zebrafish

BE Drummond, WS Ercanbrack… - Journal of Developmental …, 2023 - mdpi.com
Podocytes are exquisitely fashioned kidney cells that serve an essential role in the process
of blood filtration. Congenital malformation or damage to podocytes has dire consequences …