Human Genetics

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Fig A: Because the brain is particularly sensitive to changes in cholesterol metabolism, researchers focused on understanding the mechanisms behind enzyme deficiencies. These images show how neural progenitor and differentiated neuron populations are altered in the Hsd17b7 rudolph mutant mouse brain cortex. Images (A) and (B) show Pax6 apical progenitors at E11.5, and (C) and (D) show Tbr2 intermediate progenitors at E12.5. Post-mitotic populations are shown in the control and mutant at both E12.5 (E and F) and E14.5 (G and H). Scientists used double-immunostaining for EdU (K and O) and Tbr2 (L and P) at E11.5 to show increased double-positive cells in the mutant (Q and R) compared to the control (M and N). This indicates a premature differentiation program in the mutant brain.

Human Genetics

Featured Research

Fate of Neural Cells in Developing Mammalian Forebrain Could Hinge on Cholesterol Biosynthesis Enzyme

Research into the developing forebrain of mice shows for the first time that loss of proper cholesterol biosynthetic enzyme function can alter the very fate of the neural cell.

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Research and Training Details

Faculty	28
Joint Appointment Faculty	5
Research Fellows and Post Docs	5
Research Graduate Students	5
Total Annual Grant Award Dollars	$4,536,233
Total Annual Industry Award Dollars	$430,694
Total Publications	103

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Clinical Fellows	5
Inpatient Encounters	680
Outpatient Encounters	6,224

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Human Genetics

Human Genetics

Human Genetics

Featured Research

Fate of Neural Cells in Developing Mammalian Forebrain Could Hinge on Cholesterol Biosynthesis Enzyme

Research and Training Details

Clinical Activities and Training

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