Disease: Persistent Mullerian duct syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.030 Biomarker disease BEFREE To investigate possible underlying mechanisms, we generated enterocytes from PMDS patient-derived induced pluripotent stem cells and used Caco-2 cells with knockdown of SHANK3. 28345660 2017
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.030 Biomarker disease BEFREE Pharmacological and genetic activation of Akt or inhibition of CLK2 relieved synaptic deficits in Shank3-deficient and PMDS patient-derived neurons. 26847545 2016
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.030 AlteredExpression disease BEFREE Excitatory synaptic transmission in PMDS neurons can be corrected by restoring SHANK3 expression or by treating neurons with insulin-like growth factor 1 (IGF1). 24132240 2013