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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
pediatric end-stage renal disease. Knowledge on the molecular mechanisms that underlie …
Congenital heart defects and ciliopathies associated with renal phenotypes
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 …
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 …
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 …
of blood filtration. Congenital malformation or damage to podocytes has dire consequences …