Harriet M. Jackson

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Leslie P. Molina‐Ramírez, Claire Kyle, Jamie M. Ellingford, Ronnie Wright et autres

PURPOSE: The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand imposed by the …

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A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Abstract Background The complement cascade is increasingly implicated in development of a variety of diseases with strong immune contributions such as Alzheimer’s disease and Systemic Lupus Erythematosus. Mouse models have been used to determine function of central components of the complement cascade …

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Staging Alzheimer’s Disease in the Brain and Retina of B6.APP/PS1 Mice by Transcriptional Profiling

Sumana R. Chintapaludi, Aslı Uyar, Harriet M. Jackson, Casey J. Acklin et autres

Alzheimer's disease (AD) is a common form of dementia characterized by amyloid plaque deposition, tau pathology, neuroinflammation, and neurodegeneration. Mouse models recapitulate some key features of AD. For instance, the B6.APP/PS1 model (carrying human transgenes for mutant forms of APP and PSEN1) …

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Additional file 8 of A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Additional file 8.

Additional file 9 of A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Additional file 9.

Additional file 6 of A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Additional file 6.

Additional file 4 of A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Additional file 4.

Additional file 5 of A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Additional file 5.

Additional file 3 of A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Additional file 3.

Additional file 7 of A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M. Stearns et autres

Additional file 7.

A novel mouse model expressing human forms for complement receptors CR1 and CR2

Harriet M. Jackson, Kate E. Foley, Rita O’Rourke, Timothy M Stearns et autres

Abstract The complement cascade is increasingly implicated in development of a variety of diseases with strong immune contributions such as Alzheimer’s disease and Systemic Lupus Erythematosus. Mouse models have been used to determine function of central components of the complement cascade such …

us, gb (code pays fourni par la source)

Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C

Larisa Kavetsky, Kayla K. Green, Bridget R. Boyle, Fawad A. K. Yousufzai et autres

Abstract Niemann Pick Type-C disease (NPC) is an inherited lysosomal storage disease (LSD) caused by pathogenic variants in theNpc1orNpc2genes that lead to the accumulation of cholesterol and lipids in lysosomes. NPC1 deficiency causes neurodegeneration, dementia and early death. Cerebellar Purkinje cells (PCs) …

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