Titlebook: Gene Regulatory Sequences and Human Disease; Nadav Ahituv Book 2012 Springer Science+Business Media, LLC 2012 Systems Biology

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,-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations,le it is known that some limb malformations are the result of coding mutations that disrupt genes, identifying the causal mutation in a patient with an isolated limb malformation is often difficult. This may be due in part to the growing number of cases with isolated limb malformations that are show

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Regulatory Mutations Leading to Cleft Lip and Palate,cted individual, their families, and society provides strong motivation to understand the causes. Initial genetic studies focused on coding regions of genes that are required for normal development of the lip and palate. However, many individuals with cleft lip and palate do not have mutations in th

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The Contributions of , Noncoding Variation to Hirschsprung Disease,he absence of variable length of the submucous (Meissner’s) and myenteric (Auerbach’s) plexuses in the distal gut. As a defect in neural crest-derived cell population, Hirschsprung disease is considered a neurocristopathy. While HSCR was originally observed in sporadic cases, the advent of lifesavin

Infelicity

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Cohesin and Human Diseases,ys essential cellular functions in sister chromatid cohesion during mitosis and meiosis, DNA repair, gene expression, and maintaining 3-D genome organization. Cohesin is required for cell division, maintaining pluripotency of stem cells and ensuring normal organ development. Defective cohesin genes

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