Gene Regulatory Sequences and Human Disease

In Gene Regulatory Sequences and Human Disease , the Editor will introduce the different technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases.

List of contents

Gene regulatory elements.- The Hemoglobin regulatory regions.- Regulatory polymorphisms and osteoporosis.- Gene regulation in Van Buchem disease.- Cis -regulatory enhancer mutations are a cause of human limb malformations.- Regulatory mutations leading to cleft lip and palate.- Cis -regulatory disruption at the SOX9 locus as a cause of Pierre Robin Sequence.- Regulatory mutations in human hereditary deafness.- The contributions of RET non-coding variation to Hirschprung disease.- Cis -regulatory variation and cancer.- Cohesin and human diseases.- Epigenetics and human disease.- Index.

Summary

In Gene Regulatory Sequences and Human Disease, the Editor will introduce the different technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases.

Product details

• Assisted by: Nada Ahituv (Editor), Nadav Ahituv (Editor)
• Publisher: Springer, Berlin
• Languages: English
• Product format: Paperback / Softback
• Released: 16.06.2014
• EAN: 9781489987853
• ISBN: 978-1-4899-8785-3
• No. of pages: 286
• Dimensions: 158 mm x 236 mm x 16 mm
• Weight: 453 g
• Illustrations: X, 286 p.
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine; B, Life Sciences, bioinformatics, Life sciences: general issues, Human Genetics, Biomedical and Life Sciences, Medical Genetics, Systems Biology, Developmental biology, Computational biology / bioinformatics