UID:
almahu_9949479967702882
Format:
1 online resource (930 pages)
Edition:
Second edition.
ISBN:
0-323-91381-4
Content:
Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications.
Note:
Intro -- Human Reproductive and Prenatal Genetics -- Copyright -- Contents -- Contributors -- Preface -- Part I: Reproductive tract development and gametogenesis -- Chapter 1: Developmental genetics of the male reproductive system -- Introduction -- Gonadal development -- Early testicular development -- Testicular descent -- Transabdominal phase -- Inguinoscrotal phase -- Genetic control of testicular descent -- Insulin like 3 (INSL3) -- Androgen receptor (AR) -- Calcitonin gene-related peptide (CGRP) -- E2F transcription factor 1 (E2F1) -- Anti-Müllerian hormone (AMH) -- Fibroblast growth factors (FGF), Homeobox (Hox), wingless (Wnt), Notch -- Development of the external genitalia -- Formation of the genital tubercle -- Formation of the male urethra -- Differentiation of the male and female genitalia -- Genetic control of external genitalia ontogeny -- Homeobox 13 (Hox13) -- Fibroblast growth factors (Fgfs) -- Wingless (Wnt) signaling -- Sonic hedgehog (Shh) -- Androgen receptor (AR) -- Birth defects -- Hypospadias -- Cryptorchidism -- Conclusion -- Glossary -- Funding -- References -- Chapter 2: Developmental genetics of the female reproductive tract -- Introduction -- Embryogenesis of the female reproductive tract -- Development of ovaries -- Development of the Müllerian ducts -- Formation -- Initiation -- Invagination -- Elongation -- Sex determination and regression of the Wolffian duct -- Development of uterus, fallopian tubes, and upper vagina from Müllerian ducts -- Fusion -- Canalization -- Septal resorption -- Development of the vagina -- Ovarian anomalies -- Fallopian tube anomalies -- Uterine anomalies -- Classification of Mullerian duct anomalies -- Class I-Mullerian agenesis/hypoplasia -- Class II-Cervical agenesis -- Class III-Unicornuate -- Class IV-Didelphys -- Class V-Bicornuate -- Class VI-Septate.
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Class VII-Longitudinal vaginal septum and Class VIII-Tranverse vaginal septum -- Class IX-Complex anomalies -- Other Mullerian duct anomalies -- Diethylstilbestrol (DES)-related anomalies -- Hand-foot-genital syndrome (HFGS) -- Klippel Feil syndrome -- Holt-Oram syndrome (HOS) -- Evaluation of Müllerian duct anomalies -- Transvaginal ultrasonography and saline infusion sonohysterography (TVUS with SIS) -- Hysterosalpingography (HSG) -- Magnetic resonance imaging (MRI) -- Hysteroscopy -- 3D ultrasound -- Medical 3D printing -- Imaging conclusion -- Isolated vaginal anomalies -- Conclusion -- References -- Chapter 3: Genetics and genomics of early gonad development -- Introduction -- Molecular physiology in gonad development -- Essential transcription factors in gonad development -- Transcription factors required for steroidogenesis -- SF1-The transcription factor for steroidogenic enzymes -- GATA4-Its presence is crucial for the development of genital ridge after AGP split -- DAX1-A negative regulator for steroidogenesis -- Transcription factors required for the maintenance of gonad identity -- WT1-The regulator for gonad precursor cell differentiation -- CBX2-Amplifier for gonad development and male-specific differentiation -- Transcription factors essential for sex determination -- SRY-The testis-determining factor, a key to unlocking male sex determination -- SOX9-The initiator for the male-specific differentiation program -- Homeodomain proteins in early gonad development -- LHX9-A likely regulator of cell stemness -- EMX2-Its presence ensures that the genital ridge could bulge in for cell ingression -- PBX1-Essential early expression of this gene for the induction of SF1 -- SIX1/SIX4-Redundant gene pair to finetune cell proliferation and differentiation -- HOX genes-A family of genes governing spatiotemporal reproductive development.
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Chromatin accessibilities of transcription factors among gonadal somatic cells -- Conclusions -- Acknowledgments -- References -- Chapter 4: Effects of aging on sperm chromatin -- Introduction -- Transformations of the nucleus during spermatogenesis -- Nuclear protein dynamics from spermatogonia to spermatozoa -- Spermatogenesis and the nuclear matrix -- Sperm chromatin organization -- Epigenetic changes occurring during spermatogenesis -- DNA methylation -- Histone variants and histone post-translational modifications in the germline -- Noncoding RNAs in the germline -- Cooperation of epigenetic mechanisms -- DNA damage/repair in germ cells during spermatogenesis -- Aging and male germ cells -- Consequences of advanced paternal age -- Effects of aging on DNA damage/repair in male germ cells -- Aging affects epigenetic marks in male germ cells -- Sperm DNA methylation with advanced paternal age -- Histone modifications with advanced paternal age -- Noncoding RNAs in sperm with advanced paternal age -- Telomeres in sperm with advanced paternal age -- Conclusion -- Acknowledgments -- References -- Chapter 5: In vitro spermatogenesis from pluripotent stem cells -- Introduction -- Induction of spermatogenesis in mice -- Induction of mPGCLCs from mESCs -- Process of mPGC development in vivo -- Regulatory network of mPGC specification -- Epigenetic reprogramming during mPGC development -- Early studies of PGC induction in vitro -- Strategy for mPGC induction -- Induction of mature germ cells and gametes from mPGCLCs -- Important genes functioning in the pathway -- Induction of spermatogenesis in human -- Induction of hPGCLCs -- Important factors involved in the pathway -- Discussion -- References -- Chapter 6: The molecular genetics of oogenesis -- Introduction -- Oogenesis: An overview -- Nuclear DNA (nDNA) inheritance -- Mitotic division.
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Meiosis division -- Nuclear mechanics during gametogenesis: chromosome replication and interactions -- Nuclear polarization and the chromosomal bouquet -- Genetic recombination -- Chromosome alignment and segregation -- Spindle assembly and checkpoint (SAC) -- Mitochondrial inheritance -- The role of mitochondria in oogenesis -- Mitochondrial DNA (mtDNA) -- Transmission of mtDNA in the female germ line -- MtDNA replication and transcription -- Mitochondrial distribution and dynamics -- Mitochondrial aberrations leading to disease -- Summary -- Acknowledgments -- References -- Chapter 7: Growth of the mammalian oocyte: Focus on intercellular contact and communication -- Introduction -- The starting pool of oocytes -- Post-natal oocyte development-An overview -- Initiation of oocyte growth -- Molecular and morphological aspects of oocyte growth -- Interaction between the growing oocytes and the follicular granulosa cells -- Support for the growing oocyte provided by the granulosa cells -- Support for the granulosa cells provided by the growing oocyte -- Maintaining meiotic arrest in growing oocytes -- Release from meiotic arrest at the time of ovulation -- Conclusion -- References -- Chapter 8: In vitro activation of ovarian follicles -- Introduction -- The major signaling pathways in activation of ovarian follicles -- The scientific evidence of IVA -- Evidence supporting the roles of PI3K-Akt-FOXO3 pathway in activation of PFs -- Evidence supporting the roles of hippo signaling pathway in activation of PFs -- IVA procedure in clinical perspective -- IVA and drug-free IVA in POI and POR-DOR patients -- Other potential indications of IVA and drug-free IVA -- References -- Part II: Embryo implantation, placenta development and pregnancy -- Chapter 9: Interaction of sperm and embryo with the female reproductive tract -- Introduction.
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Selection of spermatozoa for fertilization in FRT -- Vagina and cervix -- Uterus -- Uterotubal junction -- Fallopian tubes -- Cumulus mass -- Embryo-fallopian tube interaction during preimplantation development -- Early embryo transport in fallopian tube -- Fallopian tube embryotrophic factors -- Demilune cell and parotid protein -- Oviductin -- Osteopontin -- Human complement protein 3 -- Phospholipid transfer protein -- Embryo-uterine interaction -- Development of a competent blastocyst -- Blastocyst orientation during implantation -- Regulation of embryo orientation -- Zona hatching of blastocyst -- Endometrial receptivity acquisition -- Hormonal control of menstrual cycle -- Implantation window -- Role of progesterone on endometrium-embryo interaction -- Endometrial gland and uterine fluid in endometrium-embryo interaction -- Endometrial glands -- Uterine fluid -- Functional components in uterine fluid involved in embryo uterine cross talk -- Leukemia inhibitory factor -- Interleukin (IL)-1β -- Vascular endothelial growth factor (VEGF) -- Epidermal growth factor (EGF) -- Transforming growth factor-β (TGF-β) -- Implantation processes -- Blastocyst apposition and adhesion -- L-selectin -- Pinopodes -- Mucin-1 (MUC-1) -- Cell adhesion molecules involved in endometrial receptivity -- Integrins -- Cadherins -- Blastocyst invasion -- Regulation of blastocyst invasion -- Decidua as a biosensor of embryo quality -- The emergent roles of extracellular vesicles (EV) -- Uterine and embryonic EV exchange -- Actions of tubal or uterine EV on sperm function -- Actions of tubal or uterine EV on embryo development -- Actions of embryo-derived EV on embryo development and endometrial receptivity -- The components in EV -- Extracellular vesicles as biomarkers in reproductive medicine -- Biomarkers for embryo quality -- Biomarkers for endometrial receptivity.
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Concluding remarks.
Additional Edition:
Print version: Leung, Peter C. K. Human Reproductive and Prenatal Genetics San Diego : Elsevier Science & Technology,c2023 ISBN 9780323913805
Language:
English
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