LEADER 03391nam 2200673Ia 450 001 9910458807603321 005 20200520144314.0 010 $a0-19-756272-8 010 $a0-19-045282-X 010 $a1-282-50095-3 010 $a9786612500954 010 $a0-19-974191-3 035 $a(CKB)2670000000012848 035 $a(EBL)497638 035 $a(OCoLC)593240219 035 $a(SSID)ssj0000334712 035 $a(PQKBManifestationID)12091760 035 $a(PQKBTitleCode)TC0000334712 035 $a(PQKBWorkID)10270859 035 $a(PQKB)10783649 035 $a(MiAaPQ)EBC497638 035 $a(StDuBDS)EDZ0002341768 035 $a(Au-PeEL)EBL497638 035 $a(CaPaEBR)ebr10376686 035 $a(CaONFJC)MIL250095 035 $a(EXLCZ)992670000000012848 100 $a20090724d2010 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aAniridia and WAGR syndrome$b[electronic resource] $ea guide for patients and families /$fedited by Jill Ann Nerby and Jessica J. Otis 210 $aOxford ;$aNew York $cOxford University Press$dc2010 215 $a1 online resource (208 p.) 225 1 $aOxford scholarship online 300 $aPreviously issued in print: 2010. 311 $a0-19-538930-1 320 $aIncludes bibliographical references and index. 327 $aPreface; Contents; About the Authors; 1. Aniridia, WAGR Syndrome, and Associated Conditions; 2. Inspirations; 3. Aniridia-Epidemiology and Genetics; 4. Personal Experiences of Individuals with Aniridia; 5. Glaucoma Problems Associated with Aniridia; 6. Cornea and Lens Problems in Aniridia; 7. Low Vision and Aniridia; 8. Psychological Support; 9. Parents' Experiences; 10. Parents' and Families' Guide; 11. Teachers' and School Administrators' Guide; 12. Jill Nerby and Aniridia Foundation International; 13. Other Support Services; Appendix; Glossary; Index 330 8 $aWhen a child is born without a complete iris, it is usually a symptom of a broader condition. Known as aniridia, this condition can also be a sign other parts of the eye are underdeveloped as well. Moreover, recent research shows that the gene involved can also affect the kidneys, pancreas and forebrain, so aniridia can coincide with a range of symptoms known as WAGR syndrome. Until recently, however, there was very little information available on aniridia and WAGR Syndrome. Even now, not all of the available information is current or correct, so that when a child is diagnosed with aniridia, the parents often find or are given information that is confusing and even frightening. Our hope is to enlighten and encourage those affected by aniridia and WAGR Syndrome by providing patient support and medical information. 410 0$aOxford scholarship online. 606 $aIris (Eye)$xDiseases$vPopular works 606 $aGenetic disorders$vPopular works 606 $aSyndromes$vPopular works 608 $aElectronic books. 615 0$aIris (Eye)$xDiseases 615 0$aGenetic disorders 615 0$aSyndromes 676 $a617.7/2 701 $aNerby$b Jill Ann$0893169 701 $aOtis$b Jessica J$0893170 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910458807603321 996 $aAniridia and WAGR syndrome$91994914 997 $aUNINA LEADER 05147nam 2200613Ia 450 001 9910144557803321 005 20170816123759.0 010 $a1-280-51969-X 010 $a9786610519699 010 $a3-527-60380-8 010 $a3-527-60434-0 035 $a(CKB)1000000000377162 035 $a(EBL)482201 035 $a(OCoLC)68571579 035 $a(SSID)ssj0000119363 035 $a(PQKBManifestationID)11132325 035 $a(PQKBTitleCode)TC0000119363 035 $a(PQKBWorkID)10072798 035 $a(PQKB)10527648 035 $a(MiAaPQ)EBC482201 035 $a(PPN)250325381 035 $a(EXLCZ)991000000000377162 100 $a20041011d2004 fy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aCentrosomes in development and disease$b[electronic resource] /$fedited by Erich A. Nigg 210 $aWeinheim ;$a[Great Britain] $cWiley-VCH$dc2004 215 $a1 online resource (475 p.) 300 $aDescription based upon print version of record. 311 $a3-527-30980-2 320 $aIncludes bibliographical references and index. 327 $aCentrosomes in Development and Disease; Contents; Preface; List of Contributors; Color Plates; Part I Microtubule Organization and Dynamics; 1 Early Studies on Centrioles and Centrosomes; 1.1 Introduction; 1.2 Pioneering Studies; 1.3 Self-replication versus De Novo Formation; 1.4 Centrioles and Basal Bodies; 1.5 Blepharoplasts; 1.6 The Search for DNA; 1.7 On to Self-assembly; References; 2 The Tubulin Superfamily; 2.1 History; 2.2 Family Relations; 2.3 Localization and Function; 2.4 ?-Tubulin; 2.5 ?-Tubulin; 2.6 ?-Tubulin; 2.7 Other Members of the Fold; References; 3 Microtubule Nucleation 327 $a3.1 Introduction3.1.1 The Nucleation of Microtubules can occur Spontaneously In Vitro, but Requires ?-Tubulin In Vivo; 3.1.2 Models for the Mechanism of ?-TuRC/Tub4 Complex-mediated Microtubule Nucleation; 3.2 Kinetic Models of the Mechanism of Microtubule Nucleation; 3.3 The Involvement of Non-?-TuRC Proteins in Microtubule Nucleation; 3.4 Future Directions; Acknowledgments; References; 4 The Budding Yeast Spindle Pole Body: A Centrosome Analog; 4.1 Introduction; 4.2 Molecular Composition of the Spindle Pole Body; 4.2.1 The Central Plaque; 4.2.2 The Inner Plaque; 4.2.3 The Outer Plaque 327 $a4.2.4 Nuclear Membrane Factors4.2.5 The Halfbridge; 4.2.6 Structure Summary; 4.3 Microtubule Nucleation; 4.4 Assembly/Duplication of SPBs and Centrosomes; 4.4.1 Electron Microscopic Description of Duplication; 4.4.2 Cell Cycle Regulation of Duplication; 4.4.3 Genetic Analysis of Duplication; 4.5 Signaling Platform; 4.6 Developmental Alteration of SPB Function; 4.7 Parting Thoughts; Acknowledgments; References; 5 Dissection of Basal Body and Centriole Function in the Unicellular Green Alga Chlamydomonas reinhardtii; 5.1 Introduction 327 $a5.2 Why Study a Green Alga to Learn about Centrioles and Basal Bodies?5.3 Structure of the Basal Body and Centriole in Chlamydomonas; 5.4 Additional Fibers that Connect Basal Bodies and Centrioles; 5.4.1 Contractile Fibers; 5.4.2 Rootlet Microtubules; 5.4.3 Non-contractile Fibers; 5.5 Overview of the Cell Cycle of Chlamydomonas; 5.6 Duplication of Basal Bodies in Chlamydomonas; 5.7 Role of Tubulin Isoforms in Basal Body Duplication; 5.8 Timing of Basal Body/Centriole Duplication in Chlamydomonas; 5.9 Function of Basal Bodies and Centrioles in Chlamydomonas 327 $a5.10 What Makes a Basal Body Different from a Centriole?5.10.1 Transition Zone and Docking; 5.10.2 Transition Zone and Autonomy; 5.10.3 Maturation of Basal Bodies; 5.11 Conclusion; Acknowledgments; References; 6 The Centrosome in Evolution; 6.1 Introduction; 6.2 The Centriole/Basal Body Structure is a Derived Characteristic of Eukaryotes; 6.3 The Basal Body/Axoneme is the Ancestral Structure; 6.4 Functions Associated with the Flagellar Apparatus; 6.4.1 Cell Locomotion; 6.4.2 Sensory Reception; 6.4.3 Cell Division 327 $a6.5 The Conservative Mode of Duplication of the Basal Body/Centriole/SPB: An Essential Clue for Cell Morphogenesis 330 $aDiscovered over a century ago, the centrosome is the major microtubule organizing center of the animal cell. It is a tiny organelle of surprising structural complexity. Over the last few years our understanding of the structure and composition of centrosomes has greatly advanced, and the demonstration of frequent centrosome anomalies in most common human tumors has sparked additional interest in the role of this organelle in a broader scientific community.The centrosome controls the number and distribution of microtubules - a major element of the cell cytoskeleton - and hence influence 606 $aCentrosomes 606 $aCytology 615 0$aCentrosomes. 615 0$aCytology. 676 $a571.65 701 $aNigg$b Erich A$0916475 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910144557803321 996 $aCentrosomes in development and disease$92054468 997 $aUNINA