[HTML][HTML] The genetics of autosomal recessive polycystic kidney disease (ARPKD)

P Goggolidou, T Richards - Biochimica et Biophysica Acta (BBA)-Molecular …, 2022 - Elsevier
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of
cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying …

Ciliogenesis and the DNA damage response: a stressful relationship

CA Johnson, SJ Collis - Cilia, 2016 - Springer
Both inherited and sporadic mutations can give rise to a plethora of human diseases.
Through myriad diverse cellular processes, sporadic mutations can arise through a failure to …

Multivalency regulates activity in an intrinsically disordered transcription factor

S Clark, JB Myers, A King, R Fiala, J Novacek… - Elife, 2018 - elifesciences.org
The transcription factor ASCIZ (ATMIN, ZNF822) has an unusually high number of
recognition motifs for the product of its main target gene, the hub protein LC8 (DYNLL1) …

[HTML][HTML] Whole-genome resequencing identifies candidate genes associated with heat adaptation in chickens

H Bai, N Zhao, X Li, Y Ding, Q Guo, G Chen, G Chang - Poultry Science, 2024 - Elsevier
The wide distribution and diverse varieties of chickens make them important models for
studying genetic adaptation. The aim of this study was to identify genes that alter heat …

The role of Wnt signalling in chronic kidney disease (CKD)

SA Malik, K Modarage, P Goggolidou - Genes, 2020 - mdpi.com
Chronic kidney disease (CKD) encompasses a group of diverse diseases that are
associated with accumulating kidney damage and a decline in glomerular filtration rate …

[HTML][HTML] Atmin modulates Pkhd1 expression and may mediate autosomal recessive polycystic kidney disease (ARPKD) through altered non-canonical Wnt/Planar cell …

T Richards, K Modarage, C Dean… - … et Biophysica Acta (BBA …, 2019 - Elsevier
Abstract Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder
with an incidence of~ 1: 20,000 that manifests in a wide range of renal and liver disease …

The biological significance and implications of planar cell polarity for nephrology

E Papakrivopoulou, DJ Jafree, CH Dean… - Frontiers in …, 2021 - frontiersin.org
The orientation of cells in two-dimensional and three-dimensional space underpins how the
kidney develops and responds to disease. The process by which cells orientate themselves …

[HTML][HTML] Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling

A Kocere, E Chiavacci, C Soneson, HH Wells… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Defects in blood development frequently occur among syndromic congenital anomalies.
Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital condition with …

Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling

A Kocere, E Chiavacci, C Soneson, HH Wells… - bioRxiv, 2023 - biorxiv.org
Defects in blood development frequently occur among syndromic congenital anomalies.
Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital condition with …

Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease

P Goggolidou, PD Wilson - Biochemical Society Transactions, 2016 - portlandpress.com
Biomarkers, the measurable indicators of biological conditions, are fast becoming a popular
approach in providing information to track disease processes that could lead to novel …