Figure 13-7 The molecular treatment of inherited disease. Each molecular therapy is discussed in the text. ADA, Adenosine deaminase; ASO, antisense oligonucleotide; ERT, enzyme replacement therapy; Hb F, fetal hemoglobin; mRNA, messenger…
Figure 15-5 Schematic diagram of the function of the Ret receptor, the product of the RET proto-oncogene. Upon binding of a ligand (L), such as glial-derived growth factor or neurturin, to the…
Figure 14-8 The clinical consequences of dysregulated growth in a child with Proteus syndrome, a congenital segmental overgrowth disorder affecting his face, abdomen, and right leg. Affected children are usually normal-appearing at…
GenotypesPhenotypesMalesHemizygous XHUnaffectedHemizygous XhAffectedFemalesHomozygous XH/XHUnaffectedHeterozygous XH/XhCarrier (may or may not be affected)Homozygous (or compound heterozygous) Xh/XhAffected X Inactivation, Dosage Compensation, and the Expression of X-Linked Genes As introduced in Chapters 3…
Figure 12-2 The biochemical pathways affected in the hyperphenylalaninemias. BH4, tetrahydrobiopterin; 4αOHBH4, 4α-hydroxytetrahydrobiopterin; qBH2, quinonoid dihydrobiopterin, the oxidized product of the hydroxylation reactions, which is reduced to BH4 by dihydropteridine reductase (DHPR);…
Figure 14-16 General transcription factors, shown in blue, and RNA polymerase bind to cis-acting sequences closely adjacent to the messenger RNA (mRNA) transcriptional start site; these cis-acting sequences are collectively referred…
Figure 5-8 Incidence of chromosome abnormalities in newborn surveys, based on chromosome analysis of over 68,000 newborns. See Sources & Acknowledgments. Chromosome abnormalities are described by a standard set of abbreviations…
*Principally in individuals of European descent. †Principally in individuals of Italian and Middle Eastern descent. LDL, Low-density lipoprotein. Partly modified from Goldstein JL, Brown MS: The cholesterol quartet. Science 292:1310–1312,…
