John J. Mitchell

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley, Hans C. Andersson, Kevin M. Antshel et al. · Genetics in Medicine · 2014 · 692 citations · Full text

Medicine, Clinical Nutrition, Pathology +4

Rfx6 directs islet formation and insulin production in mice and humans

Stuart B. Smith, Hui‐Qi Qu, Nadine Taleb et al. · Nature · 2010 · 359 citations · Full text

Metabolic Syndrome, Insulin Production, Insulin Signaling +10

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 263 citations

Translational Medicine, Chronic Kidney Disease, Renal Pathology +5

Insulin-induced insulin receptor substrate-1 degradation is mediated by the proteasome degradation pathway.

Xiao‐Jian Sun, Jonathan Goldberg, Li‐Ya Qiao et al. · Diabetes · 1999 · 219 citations

Proteasome Degradation, Proteasome, Insulin Signaling +16

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta

Dustin Baldridge, Ulrike Schwarze, Roy Morello et al. · Human Mutation · 2008 · 207 citations · Full text

Sclerostin, Genetics, Unfolded Collagen +18