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 …

Sprouty1 is a broad mediator of cellular senescence

C Anerillas, A Perramon-Güell, G Altés, S Cuesta… - Cell Death & …, 2024 - nature.com
Genes of the Sprouty family (Spry1-4) restrain signaling by certain receptor tyrosine kinases.
Consequently, these genes participate in several developmental processes and function as …

A dominant negative mutation uncovers cooperative control of caudal Wolffian duct development by Sprouty genes

G Altés, M Vaquero, S Cuesta, C Anerillas… - Cellular and Molecular …, 2022 - Springer
The Wolffian ducts (WD) are paired epithelial tubules central to the development of the
mammalian genitourinary tract. Outgrowths from the WD known as the ureteric buds (UB) …

Sprouty3, but Not Sprouty1, Expression Is Beneficial for the Malignant Potential of Osteosarcoma Cells

AZM Kamptner, CE Mayer, H Sutterlüty - International Journal of …, 2021 - mdpi.com
Sprouty proteins are widely accepted modulators of receptor tyrosine kinase-associated
pathways and fulfill diversified roles in cancerogenesis dependent on the originating cells. In …

Structural Development of the Kidney

M Anslow, J Ho - Pediatric Kidney Disease, 2023 - Springer
The kidney presents in the highest degree the phenomenon of sensibility; the power of
reacting to various stimuli in a direction which is appropriate for the survival of the organism; …

Identification and functional validation of pathogenic small nucleotide variants in patients with craniosynostosis

RS Tooze - 2023 - ora.ox.ac.uk
Craniosynostosis, the premature fusion of the cranial sutures, affects~ 1 in 2,000 live births. It
is a heterogenous disorder with documented monogenic, polygenic, chromosomal, and …