000			02992nam a22004815i 4500
001			978-1-4614-1683-8
003			DE-He213
005			20140220083243.0
007			cr nn 008mamaa
008			120530s2012 xxu| s |||| 0|eng d
020			_a9781461416838 _9978-1-4614-1683-8
024	7		_a10.1007/978-1-4614-1683-8 _2doi
050		4	_aRB155-155.8
050		4	_aQH431
072		7	_aMFN _2bicssc
072		7	_aMED107000 _2bisacsh
082	0	4	_a611.01816 _223
082	0	4	_a599.935 _223
100	1		_aAhituv, Nadav. _eeditor.
245	1	0	_aGene Regulatory Sequences and Human Disease _h[electronic resource] / _cedited by Nadav Ahituv.
264		1	_aNew York, NY : _bSpringer New York : _bImprint: Springer, _c2012.
300			_aX, 283 p. 29 illus., 24 illus. in color. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aGene 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.
520			_aGenes make up less than 2% of our DNA and within the remaining 98% lie other extremely important sequences that function as gene regulatory elements, instructing genes when, where and at what levels to turn on or off. In this book, we introduce the different types of gene regulatory elements and how to identify and functionally characterize them. In addition, we describe several pioneering examples of how mutations in these elements have been found to cause human disease.With advances in DNA sequencing, the ability to identify disease-associated mutations in these regulatory elements is rapidly increasing. This book provides a great starting point for clinicians, geneticists, genomicists, developmental biologists and computational biologists to understand how to identify gene regulatory elements and associate nucleotide variation within them to human disease.
650		0	_aMedicine.
650		0	_aHuman genetics.
650		0	_aBiological models.
650		0	_aDevelopmental biology.
650	1	4	_aBiomedicine.
650	2	4	_aHuman Genetics.
650	2	4	_aDevelopmental Biology.
650	2	4	_aSystems Biology.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9781461416821
856	4	0	_uhttp://dx.doi.org/10.1007/978-1-4614-1683-8
912			_aZDB-2-SBL
999			_c101116 _d101116