Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Nature Communications
Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD
Publication Date: 2016-01
Variant appearance in text: NPC1: 1901A>G; Y634C; rs202140203
Endoplasmic reticulum-associated degradation of Niemann-Pick C1: evidence for the role of heat shock proteins and identification of lysine residues that accept ubiquitin.
The Journal Of Biological Chemistry
Nakasone, Naoe N; Nakamura, Yuko S YS; Higaki, Katsumi K; Oumi, Nao N; Ohno, Kousaku K; Ninomiya, Haruaki H