Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies

Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T. Y., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J. L., Saraga, M., Saraga-Babic, M., Westland, R., Bodria, M., Piaggio, G., Bendapudi, P. K., … Sanna-Cherchi, S. (2023). Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Genetics in Medicine, 25(12), 100983. https://doi.org/10.1016/j.gim.2023.100983
Authors:
Jeremiah Martino
Qingxue Liu
Katarina Vukojevic
Juntao Ke
Tze Y. Lim
Atlas Khan
Yask Gupta
Alejandra Perez
Zonghai Yan
Hila Milo Rasouly
Natalie Vena
Natalie Lippa
Jessica L. Giordano
Marijan Saraga
Mirna Saraga-Babic
Rik Westland
Monica Bodria
Giorgio Piaggio
Pavan K. Bendapudi
Alejandro D. Iglesias
Ronald J. Wapner
Velibor Tasic
Fan Wang
Iuliana Ionita-Laza
Gian Marco Ghiggeri
Krzysztof Kiryluk
Rosemary V. Sampogna
Cathy L. Mendelsohn
Vivette D. D'Agati
Ali G. Gharavi
Simone Sanna-Cherchi
Affiliated Authors:
Jeremiah Martino
Qingxue Liu
Katarina Vukojevic
Juntao Ke
Tze Y. Lim
Atlas Khan
Yask Gupta
Alejandra Perez
Zonghai Yan
Hila Milo Rasouly
Natalie Vena
Natalie Lippa
Jessica L. Giordano
Alejandro D. Iglesias
Ronald J. Wapner
Fan Wang
Iuliana Ionita-Laza
Krzysztof Kiryluk
Rosemary V. Sampogna
Cathy L. Mendelsohn
Vivette D. D'Agati
Ali G. Gharavi
Simone Sanna-Cherchi
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Kidney Development and Disease (OpenAlex Topic)
Genomic Imprinting and Parental Gene Expression Control (OpenAlex Topic)
Epigenetic Modifications and Their Functional Implications (OpenAlex Topic)
Urinary Tract (MeSH)
Urogenital Abnormalities (MeSH)
Epilepsy (MeSH)
Author Keywords:
congenital anomalies of the kidney and urinary tract
congenital obstructive uropathy
dstyk
developmental kidney disease
mouse models of kidney disease
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100983
PMID:
37746849
DOI:
10.1016/j.gim.2023.100983
Journal:
Genetics in Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View OpenAlex Record

Record Created: