Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

The molecular basis of oral-facial-digital syndrome, type 1

(2009) Marina Macca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Bicaudal C, a novel regulator of Dvl signaling abutting RNA-processing bodies, controls cilia orientation and leftward flow

(2009) C. Maisonneuve et al.   DEVELOPMENT

Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1

(2009) Jing Zhou et al.   HUMAN MOLECULAR GENETICS

Long-term rapamycin therapy in the Han:SPRD rat model of polycystic kidney disease (PKD)

(2009) I. Zafar et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

(2009) Y. Hasumi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men

(2008) Jonathan M. Lehman et al.   DEVELOPMENTAL DYNAMICS

Identification and characterization of a novel folliculin-interacting protein FNIP2

(2008) Hisashi Hasumi et al.   GENE

Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway

(2008) Linda M. DiBella et al.   HUMAN MOLECULAR GENETICS

The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway

(2008) Tiffiney R. Hartman et al.   HUMAN MOLECULAR GENETICS

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1

(2008) Sekiya Shibazaki et al.   HUMAN MOLECULAR GENETICS

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

(2008) Clelia Prattichizzo et al.   HUMAN MUTATION

Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia

(2008) Jindong Chen et al.   PLoS One

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

(2007) Georg C. Schwabe et al.   HUMAN MUTATION