000 02956nam a22004935i 4500
001 978-0-387-28672-3
003 DE-He213
005 20250710083942.0
007 cr nn 008mamaa
008 100301s2005 xxu| s |||| 0|eng d
020 _a9780387286723
_a99780387286723
024 7 _a10.1007/0-387-28672-1
_2doi
082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
100 1 _aAmendt, Brad A.
_eauthor.
245 1 4 _aThe Molecular Mechanisms of Axenfeld-Rieger Syndrome
_h[recurso electrónico] /
_cby Brad A. Amendt.
264 1 _aBoston, MA :
_bSpringer US,
_c2005.
300 _aX, 106 p.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _arecurso en línea
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aMedical Intelligence Unit
505 0 _aIdentification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2 -- Winged Helix/Forkhead Transcription Factors and Rieger Syndrome -- Rieger Syndrome and PAX6 Deletion -- The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome -- Role of PITX2 in the Pituitary Gland -- Expression and Function of Pitx2 in Chick Heart Looping -- The Multiple Roles of Pitx2 in Heart Development -- The Role of PITX2 in Tooth Development -- PITX Genes and Ocular Development -- An Overview of Axenfeld-Rieger Syndrome and the Anterior Segment Developmental Disorders.
520 _aThe Molecular Mechanisms of Axenfeld-Rieger Syndrome describes the current research and clinical findings of the heterogeneous disorder termed Axenfeld-Rieger Syndrome (ARS). The book provides an in-depth analysis of this phenotypic diverse disorder and is designed to detail the current molecular and biochemical research involved in studying genetic defects. This book brings together the complete analysis of a human genetic defect using humans, mouse and chick epigenetic and genetic studies, combined with cell culture and in vitro analyses. It is a comprehensive study of a unique set of genes and their mutant activities. A molecular basis for the genetic and phenotypic anomalies observed in ARS patients is provided, with especially detailed descriptions of eye, tooth, and heart development.
650 0 _aMEDICINE.
650 0 _aHUMAN GENETICS.
650 0 _aCYTOLOGY.
650 0 _aDEVELOPMENTAL BIOLOGY.
650 1 4 _aBIOMEDICINE.
650 2 4 _aHUMAN GENETICS.
650 2 4 _aDEVELOPMENTAL BIOLOGY.
650 2 4 _aMOLECULAR MEDICINE.
650 2 4 _aCELL BIOLOGY.
650 2 4 _aMEDICINE/PUBLIC HEALTH, GENERAL.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9780387262222
830 0 _aMedical Intelligence Unit
856 4 0 _uhttp://dx.doi.org/10.1007/0-387-28672-1
_zVer el texto completo en las instalaciones del CICY
912 _aZDB-2-SBL
942 _2ddc
_cER
999 _c56846
_d56846