The prognostic significance of altered cyclin-dependent kinase inhibitors in human cancer. Annu Rev Med. 1999;50:401-23. Review. PubMed PMID: 10073286. Wolf FI, Cittadini A. Magnesium in cell proliferation and differentiation.
Annals of Neurology, 25(6):607-13. Kordower, J. H. et.al. 1991. Putative chromaffin cell survival and enhanced host-derived TH-fiber innervation following a functional adrenal medulla autograft for Parkinson’s disease. Annals of Neurology, 29(4):405-12.
The HD gene is present at birth, but doesn't usually develop until a persons thirties or forties. Though this is the most common time for symptoms to develop, there have been cases were symptoms developed as young as 2 and as old as 80. Symptoms begin gradually and increase over time. Huntington's disease affects three main areas of function: motor (physical), mood (emotional), and cognition (psychological). Motor function disturbances can fall into too much movement and too little movement.
Presenilin Mediated Disruption of Intracellular Calcium Homeostasis in the Pathogenesis of Familial Alzheimer’s Disease. Introduction Alzheimer’s Disease (AD) is a neurodegenerative disorder characterized by a progressive cognitive decline resulting in memory and language deficits, personality changes, and gradual loss of independence. AD is the most common form of age related dementia, effecting over 5.2 million Americans age 65 years and older[1, 2]. Most cases of AD are idiopathic in nature, however a rare variant, Familial Alzheimer’s Disease (FAD), is related to autosomal dominant mutations in one of three genes: amyloid precursor protein (APP), Presenilin-1 (PS1) or Presenilin-2 (PS2). Representing less than 5% of all AD, FAD is characterized by an early age of onset (<65), and accelerated progression.
1.4 Bivalent promoters Several specific genomic regions (domains) in ESCs studies, have been conferred presenting different histone modifications, like H3K4me3 (active) and H3K27me3 (silenced) in promoters or H3K4me1 and H3K27ac in active enhancers (Zhou et al. 2011). The observed distinct activating (H3K4me3) and repressing (H3K27me3) chromatin signals shown in promoters of several developmentally regulated genes, were given the name “bivalent” marks and they seemed to correlate more with developmental gene promoters in ESCs (B. Bernstein et al. 2006). The key point in the study of Bernstein et al.
18. Tuveson DA, Shaw AT, Willis NA, Silver DP, Jackson EL, Chang S, Mercer KL, Grochow R, Hock H, Crowley D, Hingorani SR, Zaks T, King C, Jacobetz MA, Wang L, Bronson RT, Orkin SH, DePinho RA, Jacks T.2004. Endogenous oncogenic K-ras (G12D) stimulates proliferation and widespread neoplastic and developmental defects. Cancer Cell 5:375–387. 19.
Alzheimer and Down's Syndrome Down?s Syndrome, Trisomy 21, or Mongolism is one of the most common causes of mental retardation. The majority of Down?s Syndrome patients have a moderate retardation although it can range from mild to severe. Trisomy 21 occurs in about 1 in 800 live births. This incidence increases markedly as the age of the mother increases over 35. The prevalence in children born to young mothers is 1 in 1000, while it increases to almost 1 in 40 in children born to mothers over 40.
"A Review of the Molecular Basis of Hypoxanthine-guanine Phosphoribosyltransferase (HPRT) Deficiency." Human Genetics (1992): 195-207. Print. 5. Guibinga, Ghiabe-Henri, Fiona Murray, and Nikki Barron.
Blood. ;76:2520–2528 Hancock WW, Bach FH. (1997)Immunobiology and therapeutic applications of protein C/protein S/thrombomodulin in human and experimental allo-transplantation and xenotransplantation. Trends Cardiovasc Med. ;7:174–183.
11(2): p. 141-51. 3. Cho, H., et al., Pericyte-specific expression of Rgs5: implications for PDGF and EDG receptor signaling during vascular maturation. FASEB J, 2003. 17(3): p. 440-2.