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American Journal of Human Genetics|December 1, 2009
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsNiki Tomas Loges, Heike Olbrich, Anita Becker-Heck, et al.Human Genetics|November 18, 2015
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)Anne Kosfeld, Martin Kreuzer, Christoph Daniel, et al.Journal of the American Society of Nephrology : JASN|April 12, 2014
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signalingRannar Airik, Gisela G Slaats, Zhi Guo, et al.European Journal of Human Genetics : EJHG|October 17, 2024
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tractEsra Kesdiren, Helge Martens, Frank Brand, et al.Human Molecular Genetics|March 24, 2017
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformationsAnne Kosfeld, Frank Brand, Anna-Carina Weiss, et al.Human Genetics|September 6, 2022
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2Anne Christians, Esra Kesdiren, Imke Hennies, et al.Nature Genetics|January 15, 2002
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetryHeike Olbrich, Karsten Häffner, Andreas Kispert, et al.Gut|November 27, 2019
Growth differentiation factor 11 attenuates liver fibrosis via expansion of liver progenitor cellsZhen Dai, Guangqi Song, Asha Balakrishnan, et al.The Journal of Clinical Investigation|July 13, 2021
WNT6/ACC2-induced storage of triacylglycerols in macrophages is exploited by Mycobacterium tuberculosisJulius Brandenburg, Sebastian Marwitz, Simone C Tazoll, et al.Nature Genetics|July 23, 2003
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationEdgar A Otto, Bernhard Schermer, Tomoko Obara, et al.Pageof 16