genitalia

Summary

Summary: The external and internal organs related to reproduction.

Top Publications

  1. pmc Tissue-specific requirements of beta-catenin in external genitalia development
    Congxing Lin
    Division of Dermatology, Department of Medicine, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Development 135:2815-25. 2008
  2. ncbi Evolution of genitalia: theories, evidence, and new directions
    William G Eberhard
    Smithsonian Tropical Research Institute, and Escuela de Biología, Universidad de Costa Rica, Ciudad Universitaria, San Pedro, Costa Rica
    Genetica 138:5-18. 2010
  3. pmc Sonic hedgehog controls growth of external genitalia by regulating cell cycle kinetics
    Ashley W Seifert
    Department of Biology, University of Florida, Gainesville, FL 32611, USA
    Nat Commun 1:23. 2010
  4. pmc Genetic interactions of the androgen and Wnt/beta-catenin pathways for the masculinization of external genitalia
    Shinichi Miyagawa
    Center for Animal Resources and Development and Institute of Molecular Embryology and Genetics, Kumamoto University, Japan
    Mol Endocrinol 23:871-80. 2009
  5. ncbi Evolution of male and female genitalia following release from sexual selection
    Luis Cayetano
    Evolution and Ecology Research Centre and School of Biological, Earth and Environmental Sciences, University of New South Wales, Sydney, New South Wales, Australia
    Evolution 65:2171-83. 2011
  6. ncbi An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
    Karina A Issekutz
    Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:309-17. 2005
  7. ncbi Evidence for stabilizing selection and slow divergent evolution of male genitalia in a millipede (Antichiropus variabilis)
    Janine M Wojcieszek
    University of Western Australia, Western Australia, Australia
    Evolution 66:1138-53. 2012
  8. pmc Functional and phylogenetic analysis shows that Fgf8 is a marker of genital induction in mammals but is not required for external genital development
    Ashley W Seifert
    Department of Zoology, UF Genetics Institute, University of Florida, Gainesville, FL 32611, USA
    Development 136:2643-51. 2009
  9. ncbi Unique functions of Sonic hedgehog signaling during external genitalia development
    R Haraguchi
    Center for Animal Resources and Development CARD and Graduate School of Molecular and Genomic Pharmacy, Kumamoto University, Honjo 2 2 1, Kumamoto 860 0811, Japan
    Development 128:4241-50. 2001
  10. pmc Multiphasic and tissue-specific roles of sonic hedgehog in cloacal septation and external genitalia development
    Ashley W Seifert
    Department of Biology, University of Florida, Cancer Genetics Research Complex, PO Box 103610, Gainesville, FL 32610 3610, USA
    Development 136:3949-57. 2009

Detail Information

Publications253 found, 100 shown here

  1. pmc Tissue-specific requirements of beta-catenin in external genitalia development
    Congxing Lin
    Division of Dermatology, Department of Medicine, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Development 135:2815-25. 2008
    External genitalia are body appendages specialized for internal fertilization. Their development can be divided into two phases, an early androgen-independent phase and a late androgen-dependent sexual differentiation phase...
  2. ncbi Evolution of genitalia: theories, evidence, and new directions
    William G Eberhard
    Smithsonian Tropical Research Institute, and Escuela de Biología, Universidad de Costa Rica, Ciudad Universitaria, San Pedro, Costa Rica
    Genetica 138:5-18. 2010
    Many hypotheses have been proposed to explain why male intromittent genitalia consistently tend to diverge more rapidly than other body traits of the same individuals in a wide range of animal taxa...
  3. pmc Sonic hedgehog controls growth of external genitalia by regulating cell cycle kinetics
    Ashley W Seifert
    Department of Biology, University of Florida, Gainesville, FL 32611, USA
    Nat Commun 1:23. 2010
    ..In this study, we show that inactivation of Shh in external genitalia extends the cell cycle from 8.5 to 14.4 h, and genital growth is reduced by ∼75%...
  4. pmc Genetic interactions of the androgen and Wnt/beta-catenin pathways for the masculinization of external genitalia
    Shinichi Miyagawa
    Center for Animal Resources and Development and Institute of Molecular Embryology and Genetics, Kumamoto University, Japan
    Mol Endocrinol 23:871-80. 2009
    ..the sexually dimorphic development of embryos is typically achieved by the differentiation of the external genitalia. Hence, the sexual distinction of mammalian newborns is based on the external genital structure...
  5. ncbi Evolution of male and female genitalia following release from sexual selection
    Luis Cayetano
    Evolution and Ecology Research Centre and School of Biological, Earth and Environmental Sciences, University of New South Wales, Sydney, New South Wales, Australia
    Evolution 65:2171-83. 2011
    Despite the key functions of the genitalia in sexual interactions and fertilization, the role of sexual selection and conflict in shaping genital traits remains poorly understood...
  6. ncbi An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
    Karina A Issekutz
    Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:309-17. 2005
    ....
  7. ncbi Evidence for stabilizing selection and slow divergent evolution of male genitalia in a millipede (Antichiropus variabilis)
    Janine M Wojcieszek
    University of Western Australia, Western Australia, Australia
    Evolution 66:1138-53. 2012
    ..The mode of selection operating upon genitalia can be explored by comparing patterns of population divergence in genetic and genitalic traits...
  8. pmc Functional and phylogenetic analysis shows that Fgf8 is a marker of genital induction in mammals but is not required for external genital development
    Ashley W Seifert
    Department of Zoology, UF Genetics Institute, University of Florida, Gainesville, FL 32611, USA
    Development 136:2643-51. 2009
    In mammalian embryos, male and female external genitalia develop from the genital tubercle. Outgrowth of the genital tubercle is maintained by the urethral epithelium, and it has been reported that Fgf8 mediates this activity...
  9. ncbi Unique functions of Sonic hedgehog signaling during external genitalia development
    R Haraguchi
    Center for Animal Resources and Development CARD and Graduate School of Molecular and Genomic Pharmacy, Kumamoto University, Honjo 2 2 1, Kumamoto 860 0811, Japan
    Development 128:4241-50. 2001
    Coordinated growth and differentiation of external genitalia generates a proximodistally elongated structure suitable for copulation and efficient fertilization. The differentiation of external genitalia incorporates a unique process, i...
  10. pmc Multiphasic and tissue-specific roles of sonic hedgehog in cloacal septation and external genitalia development
    Ashley W Seifert
    Department of Biology, University of Florida, Cancer Genetics Research Complex, PO Box 103610, Gainesville, FL 32610 3610, USA
    Development 136:3949-57. 2009
    Malformations of the external genitalia are among the most common congenital anomalies in humans. The urogenital and anorectal sinuses develop from the embryonic cloaca, and the penis and clitoris develop from the genital tubercle...
  11. pmc Dosage-dependent hedgehog signals integrated with Wnt/beta-catenin signaling regulate external genitalia formation as an appendicular program
    Shinichi Miyagawa
    Institute of Molecular Embryology and Genetics, Global COE Cell Fate Regulation Research and Education Unit, Kumamoto University, Kumamoto 860 0811, Japan
    Development 136:3969-78. 2009
    Embryonic appendicular structures, such as the limb buds and the developing external genitalia, are suitable models with which to analyze the reciprocal interactions of growth factors in the regulation of outgrowth...
  12. ncbi A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo
    T P Yamaguchi
    Department of Molecular and Cellular Biology, Biological Laboratories, Harvard University, Cambridge, MA 02138, USA
    Development 126:1211-23. 1999
    ..The reduced number of proliferating cells in both the progress zone and the primitive streak mesoderm suggests that one function of Wnt5a is to regulate the proliferation of progenitor cells...
  13. ncbi The evolution of asymmetric genitalia in spiders and insects
    Bernhard A Huber
    Alexander Koenig Research Museum of Zoology, Adenauerallee 160, 53113 Bonn, Germany
    Biol Rev Camb Philos Soc 82:647-98. 2007
    ..One character system that is particularly promising in this respect is animal genitalia because (1) asymmetries in genitalia have evolved many times convergently, and (2) the taxonomic literature ..
  14. ncbi Occurrence of phantom genitalia after gender reassignment surgery
    V S Ramachandran
    Center for Brain and Cognition, UCSD, La Jolla, CA 92093, USA
    Med Hypotheses 69:1001-3. 2007
    ..We would emphasise here that transsexuality should not be regarded as "abnormal" but instead as part of the spectrum of human behaviour...
  15. ncbi Development of the external genitalia: conserved and divergent mechanisms of appendage patterning
    Martin J Cohn
    Howard Hughes Medical Institute, Department of Molecular Genetics and Microbiology, Department of Biology, University of Florida, Gainesville, Florida, USA
    Dev Dyn 240:1108-15. 2011
    ..Male and female external genitalia develop from the genital tubercle...
  16. ncbi Requirement of Abdominal-A and Abdominal-B in the developing genitalia of Drosophila breaks the posterior downregulation rule
    David Foronda
    Centro de Biología Molecular Severo Ochoa C S I C U A M Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain
    Development 133:117-27. 2006
    The genitalia of Drosophila derive from the genital disc and require the activity of the Abdominal-B (Abd-B) Hox gene. This gene encodes two different proteins, Abd-B M and Abd-B R...
  17. ncbi Associations among hypospadias, cryptorchidism, anogenital distance, and endocrine disruption
    Michael H Hsieh
    Scott Department of Urology, Texas Children s Hospital, Clinical Care Center, Baylor College of Medicine, Suite 660, 6621 Fannin Street, Houston, TX 77030, USA
    Curr Urol Rep 9:137-42. 2008
    ..Hence, human hypospadias and cryptorchidism may be associated with reduced anogenital distance as a result of endocrine disruption...
  18. ncbi Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation
    R Haraguchi
    Center for Animal Resources and Development CARD, Kumamoto University, Honjo 2 2 1, Kumamoto 860 0811, Japan
    Development 127:2471-9. 2000
    The molecular mechanisms underlying the development of the external genitalia in mammals have been very little examined...
  19. pmc Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
    Ningwu Huang
    Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143 0978, USA
    Am J Hum Genet 76:729-49. 2005
    ..Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been attributed to fibroblast growth factor receptor 2 (FGFR2) ..
  20. ncbi Molecular genetic cascades for external genitalia formation: an emerging organogenesis program
    G Yamada
    Center for Animal Resources and Development CARD, Graduate School of Medical and Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan
    Dev Dyn 235:1738-52. 2006
    External genitalia are anatomical structures located at the posterior embryonic region as part of several urogenital/reproductive organs...
  21. ncbi CHARGE syndrome: report of 47 cases and review
    A L Tellier
    Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant, INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 76:402-9. 1998
    ....
  22. ncbi Mating positions and the evolution of asymmetric insect genitalia
    Bernhard A Huber
    Alexander Koenig Research Museum of Zoology, 53113 Bonn, Germany
    Genetica 138:19-25. 2010
    ..Others require in-depth analyses of the function of asymmetric genital structures, targeted comparative analyses (e.g., of taxa with sex-role reversal, taxa with reversal to symmetry, etc.), and of female genital neuroanatomy...
  23. ncbi Growth and development in rats given recombinant human epidermal growth factor(1-48) as neonates
    J W Henck
    Department of Pathology and Experimental Toxicology, Parke Davis Pharmaceutical Research Division, Warner Lambert Company, Ann Arbor, Michigan 48105, USA
    Toxicol Sci 62:80-91. 2001
    ..These results demonstrate that a 48-amino acid fragment of human EGF produced by recombinant technology also induces such effects...
  24. ncbi Starting from fins: parallelism in the evolution of limbs and genitalia. The fin-to-limb transition
    Ann Campbell Burke
    Department of Biology, Wesleyan University, Middletown, CT 06459 0170, USA
    Evol Dev 4:375-7. 2002
    ..focused on three presentations made at the Starting from Fins: Parallelism in the Evolution of Limbs and Genitalia symposium held as part of the 2001 Chicago meeting of the Society of Integrative and Comparative Biology...
  25. ncbi Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    Kunio Kitamura
    Mitsubishi Kagaku Institute of Life Sciences, 11 Minamiooya, Machida, Tokyo 194 8511, Japan
    Nat Genet 32:359-69. 2002
    ..These characteristics recapitulate some of the clinical features of X-linked lissencephaly with abnormal genitalia (XLAG) in humans...
  26. pmc Coordinated activity of Spry1 and Spry2 is required for normal development of the external genitalia
    Saunders T Ching
    Department of Orofacial Sciences, University of California, San Francisco, United States Department of Urology, University of California, San Francisco, United States
    Dev Biol 386:1-11. 2014
    Development of the mammalian external genitalia is controlled by a network of signaling molecules and transcription factors...
  27. ncbi Behavior in CHARGE syndrome: introduction to the special topic
    Timothy S Hartshorne
    Psychology Department, Central Michigan University, Mount Pleasant, MI 48859, USA
    Am J Med Genet A 133:228-31. 2005
    ..And, finally, all papers point to behavior as communication, especially within relationships, where it is essential for maximizing intellectual and social outcomes...
  28. ncbi Sonic hedgehog signaling from the urethral epithelium controls external genital development
    Claire L Perriton
    Division of Zoology, University of Reading, Whiteknights, United Kingdom
    Dev Biol 247:26-46. 2002
    ..In mice with a targeted deletion of Shh, external genitalia are absent. Genital swellings are initiated, but outgrowth is not maintained...
  29. ncbi Functional analysis of ectodermal β-catenin during external genitalia formation
    Ahmad Reza Mazahery
    Department of Developmental Genetics, Institute of Advanced Medicine, Wakayama Medical University, Wakayama, Japan
    Congenit Anom (Kyoto) 53:34-41. 2013
    ..catenin during the development of the mouse genital tubercle, a mammalian anlage of the external genitalia. For this purpose, the conditional loss of function mouse mutant Wnt7a-Cre;β-cat(f/f) was utilized...
  30. ncbi Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome
    John M Graham
    Department of Pediatrics, Medical Genetics Birth Defects Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 133:240-7. 2005
    ....
  31. pmc Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    Jan Idkowiak
    Centre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom
    J Clin Endocrinol Metab 96:E453-62. 2011
    ..P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency...
  32. ncbi Ultrasonographic patterns of reproductive organs in infants fed soy formula: comparisons to infants fed breast milk and milk formula
    Janet M Gilchrist
    Arkansas Children s Nutrition Center, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA
    J Pediatr 156:215-20. 2010
    ..To determine if differences exist in hormone-sensitive organ size between infants who were fed soy formula (SF), milk formula (MF), or breast milk (BF)...
  33. ncbi CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years
    Lisa C Searle
    Medical Student, Dalhousie University, Nova Scotia, Canada
    Am J Med Genet A 133:344-9. 2005
    ..At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density...
  34. ncbi Etiology, clinical profile, gender identity and long-term follow up of patients with ambiguous genitalia in India
    A C Ammini
    Department of Endocrinology, All India Institute of Medical Sciences, New Delhi
    J Pediatr Endocrinol Metab 15:423-30. 2002
    There is little information on the profile of children with ambiguous genitalia in India. Presented here is an analysis of patients with ambiguous genitalia registered in a general endocrine clinic during the last 2 decades...
  35. ncbi Topical tacrolimus for the treatment of psoriasis on the face, genitalia, intertriginous areas and corporal plaques
    G Martin Ezquerra
    Psoriasis and Phototherapy Centre, Department of Dermatology, Hospital Universitari Sagrat Cor, Barcelona, Spain
    J Drugs Dermatol 5:334-6. 2006
    ..Topically, it seems only useful in thin psoriasis plaques located on the face, genitalia, and intertriginous areas. We present an open-label clinical trial to test the efficacy of 0...
  36. ncbi Genotype × environment interaction is weaker in genitalia than in mating signals and body traits in Enchenopa treehoppers (Hemiptera: Membracidae)
    Rafael L Rodríguez
    Behavioral and Molecular Ecology Group, Department of Biological Sciences, University of Wisconsin Milwaukee, Lapham Hall, 3209 N Maryland Ave, Milwaukee, WI 53201, USA
    Genetica 139:871-84. 2011
    ..types expected to differ in canalization and condition-dependence: mating signals, body size-related traits, and genitalia. Because genitalia are expected to show the least condition-dependence and the most canalization, they should ..
  37. ncbi Sex-specific gene interactions in the patterning of insect genitalia
    Ariel C Aspiras
    American University, Department of Biology, Hurst Hall 101, 4400 Massachusetts Ave NW, Washington, DC 20016 8007, USA
    Dev Biol 360:369-80. 2011
    b>Genitalia play an important role in the life histories of insects, as in other animals. These sexually dimorphic structures evolve rapidly and derive from multiple body segments...
  38. ncbi Adolescent and adult issues in CHARGE syndrome
    Kim D Blake
    Department of Pediatrics, IWK Health Centre, Dalhousie University, NS, Canada
    Clin Pediatr (Phila) 44:151-9. 2005
    ..The resulting body of information provides important insights into the prognosis and special needs of individuals with CHARGE, as well as further research questions...
  39. ncbi Development of the genital ducts and external genitalia in the early human embryo
    Yasmin Sajjad
    Reproductive Medicine Unit, St Mary s Hospital Manchester, UK
    J Obstet Gynaecol Res 36:929-37. 2010
    ..Normal differentiation of the bipotential external genitalia and reproductive ducts are dependent upon the presence or absence of certain hormones...
  40. ncbi A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia
    Oded Breuer
    Division of Pediatric Endocrinology, Department of Pediatrics, Hadassah Hebrew University Medical Center, Mount Scopus, PO Box 24035, Jerusalem 91240, Israel
    Eur J Endocrinol 167:209-16. 2012
    ..Kisspeptin 1 receptor (KISS1R) gene mutations are rare but have recently become an important etiology of normosmic isolated hypogonadotropic hypogonadism (IHH)...
  41. pmc Rapidly cleared episodes of herpes simplex virus reactivation in immunocompetent adults
    Karen E Mark
    Department of Medicine, University of Washington, Seattle, Washington 98122, USA
    J Infect Dis 198:1141-9. 2008
    ..Recent in situ data show the localization of HSV-specific CD8(+) T cells at the dermal epidermal junction next to peripheral sensory nerve endings, suggesting that viral reactivation may occur more frequently than previously appreciated...
  42. ncbi Alternative techniques to study characters of the genitalia in Lepidoptera
    Fernando M S Dias
    Depto de Zoologia, Univ Federal do Paraná, Curitiba, PR, Brasil
    Neotrop Entomol 39:1044-5. 2010
    The present note aims to describe two alternative methods for observing genitalia in Lepidoptera...
  43. ncbi Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency
    L Williamson
    University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
    Am J Med Genet A 140:1797-803. 2006
    ..attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency...
  44. ncbi Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome
    Masanori Adachi
    Department of Endocrinology and Metabolism, Clinical Research Institute, Kanagawa Children s Medical Center, Yokohama, Japan
    Am J Med Genet A 128:333-9. 2004
    ..Our results demonstrate that mutations in POR cause the ABS phenotype with autosomal recessive inheritance and with characteristic abnormalities in steroidogenesis...
  45. ncbi Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation
    Elena Colombo
    Stem Cell Research Department, San Raffaele Scientific Institute, 20132 Milan, Italy
    J Neurosci 27:4786-98. 2007
    ARX loss-of-function mutations cause X-linked lissencephaly with ambiguous genitalia (XLAG), a severe neurological condition that results in profound brain malformations, including microcephaly, absence of corpus callosum, and impairment ..
  46. pmc Measurement and correlates of ano-genital distance in healthy, newborn infants
    S Sathyanarayana
    Center for Child Health, Behavior, and Development, Seattle Children s Hospital, Seattle, WA, USA
    Int J Androl 33:317-23. 2010
    ..We confirmed previous findings that AGD is a sexually dimorphic measurement that is most strongly predicted by infant weight. The application of this measurement to clinically relevant outcomes remains to be explored in further depth...
  47. ncbi Regulation of outgrowth and apoptosis for the terminal appendage: external genitalia development by concerted actions of BMP signaling [corrected]
    Kentaro Suzuki
    Center for Animal Resources and Development, Graduate School of Medical and Pharmaceutical Sciences, Kumamoto University, Honjo 2 2 1, Kumamoto 860 0811, Japan
    Development 130:6209-20. 2003
    Extra-corporal fertilization depends on the formation of copulatory organs: the external genitalia. Coordinated growth and differentiation of the genital tubercle (GT), an embryonic anlage of external genitalia, generates a ..
  48. pmc Intersex and gender assignment; the third way?
    S F Ahmed
    Scottish Genital Anomaly Network, Scotland, UK
    Arch Dis Child 89:847-50. 2004
    ..It is no wonder that the birth of a child with complex genital anomalies where the sex of rearing is uncertain at birth, presents difficult clinical and ethical issues...
  49. ncbi Ambiguous genitalia
    Ricardo Gonzalez
    Division of Urology, Alfred I duPont Hospital for Children, Nemours Children s Clinic, Wilmington, Delaware 19899, USA
    Curr Opin Urol 16:273-6. 2006
    ..Current controversies exist regarding the timing and technical aspects of female genital reconstruction and indeed the wisdom of performing these procedures in childhood...
  50. ncbi Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome
    Deborah L Cragun
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 129:1-7. 2004
    ..The brother had ambiguous genitalia and increased serum levels of progesterone and 17-alpha-hydroxyprogesterone...
  51. pmc Identity and fate of Tbx4-expressing cells reveal developmental cell fate decisions in the allantois, limb, and external genitalia
    L A Naiche
    Cancer and Developmental Biology Lab, National Cancer Institute Frederick, Frederick, Maryland, USA
    Dev Dyn 240:2290-300. 2011
    ..expression and lineage reveal that various distinct appendages, such as the allantois, hindlimb, and external genitalia, all arise from a single mesenchymal expression domain...
  52. ncbi Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
    J Amiel
    , , Paris, France
    Am J Med Genet 99:124-7. 2001
    ....
  53. ncbi Imaging of ambiguous genitalia: classification and diagnostic approach
    Govind B Chavhan
    Department of Diagnostic Imaging, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada
    Radiographics 28:1891-904. 2008
    ..complex tracts; and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of ..
  54. ncbi Consensus statement on terminology and management: disorders of sex development
    C P Houk
    Department of Pediatrics, Backus Children s Hospital, Mercer University School of Medicine, Savannah, GA, USA
    Sex Dev 2:172-80. 2008
    ..Also, blatantly lacking are adequate data concerning the impact of prenatal androgen on the fetal central nervous system regarding subsequent development of gender and sexual issues...
  55. ncbi Valacyclovir and acyclovir for suppression of shedding of herpes simplex virus in the genital tract
    Rachna Gupta
    Department of Medicine, University of Washington, Seattle, Washington 98122, USA
    J Infect Dis 190:1374-81. 2004
    ..The efficacy of valacyclovir and acyclovir on genital herpes simplex virus (HSV) shedding was assessed in a double-blind, 3-period crossover trial...
  56. ncbi An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects
    Birgit Kohler
    Service d Hormonologie and Institut National de la Santé et de la Recherche Médicale U540, CHU Montpellier, France
    Eur J Endocrinol 150:825-30. 2004
    ..This study reports the clinical and molecular data of an XY patient with a very unusual phenotype due to a Wilms' tumor-suppressor (WT1) gene mutation. The genotype-phenotype relationship of different WT1 mutations is then discussed...
  57. ncbi Experiments with genitalia: a commentary
    William G Eberhard
    Smithsonian Tropical Research Institute and Escuela de Biologia, Universidad de Costa Rica, Ciudad Universitaria, Costa Rica
    Trends Ecol Evol 26:17-21. 2011
    There has been a recent burst of studies of the function of genitalia, many of which share several important shortcomings...
  58. ncbi Of fingers, toes and penises
    T Kondo
    Nature 390:29. 1997
  59. ncbi Investigation and initial management of ambiguous genitalia
    S Faisal Ahmed
    Department of Child Health, Royal Hospital for Sick Children, University of Glasgow, Yorkhill, Glasgow G3 8SJ, United Kingdom
    Best Pract Res Clin Endocrinol Metab 24:197-218. 2010
    Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and ..
  60. ncbi Intersexual arms race? Genital coevolution in nephilid spiders (Araneae, Nephilidae)
    Matjaz Kuntner
    Institute of Biology, Scientific Research Centre, Slovenian Academy of Sciences and Arts, Novi trg 2, P O Box 306, SI 1001 Ljubljana, Slovenia
    Evolution 63:1451-63. 2009
    ..male monogamy) via opportunistic mating, pre- and postcopulatory mate guarding, and/or plugging of female genitalia to exclude subsequent suitors...
  61. ncbi Securing paternity in spiders? A review on occurrence and effects of mating plugs and male genital mutilation
    Gabriele Uhl
    Department of General and Systematic Zoology, Zoological Institute and Museum, University of Greifswald, 14787 Greifswald, Germany
    Genetica 138:75-104. 2010
    ..In order to understand plug evolution and function we need to explore the morphological, behavioural and biochemical aspects involved and extend our approach to interactions between the sexes...
  62. pmc Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients
    Taninee Sahakitrungruang
    Department of Pediatrics, University of California San Francisco, San Francisco, California 94143, USA
    J Clin Endocrinol Metab 94:4992-5000. 2009
    ..P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility...
  63. ncbi Parents' narratives about their experiences of their child's reconstructive genital surgeries for ambiguous genitalia
    Caroline Sanders
    Royal Liverpool Children s Hospital, Liverpool, UK
    J Clin Nurs 17:3187-95. 2008
    The aim of this study was to initiate an exploration of parents' understanding and experiences of their child's reconstructive genital surgeries for ambiguous genitalia.
  64. ncbi Development of the genitalia in Drosophila melanogaster
    Beatriz Estrada
    Division of Genetics, HHMI Brigham and Women s Hospital, 20 Shattuck Street, Boston, MA 02115, USA
    Differentiation 71:299-310. 2003
    ..This disc, whose growth and shape are sexually dimorphic, gives rise to the genitalia and analia, the more posterior structures of the fruit fly...
  65. ncbi Pagetoid squamous cell carcinoma in situ (pagetoid Bowen's disease) of the external genitalia
    Rajeeva R Raju
    Department of Anatomic Pathology, Division of Pathology and Laboratory Medicine, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Int J Gynecol Pathol 22:127-35. 2003
    ..This growth pattern may simulate extramammary Paget's disease (EPD) when the external genitalia are involved. We report two cases of genital pagetoid SCCIS, including the first example affecting the vulva...
  66. ncbi Surgical options in disorders of sex development (dsd) with ambiguous genitalia
    Isabelle Vidal
    Department of Paediatric Urology and Surgery, Hôpital Mère Enfants, and Claude Bernard University, 69677 Bron, France
    Best Pract Res Clin Endocrinol Metab 24:311-24. 2010
    ..e., genes, hormones and target tissues); (2) the outside sex (i.e., anatomy of genitalia including size of the genital tubercle, mullerian cavity and potential adult height of the patient); (3) the ..
  67. ncbi Practical management of the intersex infant
    Justin Brown
    Department of Endocrinology and Diabetes, Royal Children s Hospital, Parkville, Victoria, Australia
    J Pediatr Endocrinol Metab 18:3-23. 2005
    Intersex occurs when the appearance of the internal or external genitalia is at variance with normal development for either sex...
  68. ncbi Genital ambiguity with a Y chromosome: does gender assignment matter?
    Christopher P Houk
    Division of Pediatric Endocrinology, Department of Pediatrics, Penn State College of Medicine, Milton S Hershey Medical Center, Hershey, PA 17033 0850, USA
    J Pediatr Endocrinol Metab 17:825-39. 2004
    ....
  69. ncbi Compartmental organization of the Drosophila genital imaginal discs
    E H Chen
    Department of Developmental Biology, Stanford University, CA 94305, USA
    Development 124:205-18. 1997
    ..phenotypes of protein kinase A and engrailed-invected mutants also provide a more detailed map of the adult genitalia and analia with respect to the anterior/posterior compartmental subdivision...
  70. ncbi Mutations of the 5alpha-steroid reductase type 2 gene in six Turkish patients from unrelated families and a large pedigree of an isolated Turkish village
    G Ocal
    Division of Pediatric Endocrinology and Pediatric Molecular Genetics, Ankara University, Faculty of Medicine, Turkey
    J Pediatr Endocrinol Metab 15:411-21. 2002
    ..Homozygous asymptomatic female carriers must be taken into consideration in this clinical entity, especially in a closed population, because of the risk of transmitting the disease to their offspring...
  71. ncbi Trade-offs during the development of primary and secondary sexual traits in a horned beetle
    Armin P Moczek
    Department of Biology, Duke University, Durham, North Carolina 27708, USA
    Am Nat 163:184-91. 2004
    ..examine the nature and magnitude of developmental trade-offs between two very distant body parts: head horns and genitalia of males of the horned scarab beetle Onthophagus taurus...
  72. ncbi Allocation and specification of the genital disc precursor cells in Drosophila
    Elizabeth H Chen
    Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA
    Dev Biol 281:270-85. 2005
    ..originate from the embryonic tail segments A8, A9, and A10, respectively, and produce the sexually dimorphic genitalia and analia...
  73. ncbi Safety of soy-based infant formulas containing isoflavones: the clinical evidence
    Russell J Merritt
    Ross Products Division, Abbott Laboratories, Columbus, OH 43215, USA
    J Nutr 134:1220S-1224S. 2004
    ..Available evidence from adult human and infant populations indicates that dietary isoflavones in soy infant formulas do not adversely affect human growth, development, or reproduction...
  74. ncbi Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 3 35 31 Taishido, Setagaya, Tokyo 154 8567, Japan
    J Clin Endocrinol Metab 90:414-26. 2005
    ..families (two pairs of siblings and six isolated cases) with Antley-Bixler syndrome accompanied by abnormal genitalia and/or impaired steroidogenesis...
  75. ncbi Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype
    Cedric Shackleton
    Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
    Am J Med Genet A 129:105-12. 2004
    ..The male baby born of this pregnancy had normal genitalia but showed a urinary steroid profile indicating partial deficiencies of P450c17 and P450c21...
  76. pmc Gender identity and sex-of-rearing in children with disorders of sexual differentiation
    William G Reiner
    Department of Urology Pediatric Urology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
    J Pediatr Endocrinol Metab 18:549-53. 2005
    ..To compare declared sexual identity to sex-of-rearing in individuals with disorders of sexual differentiation...
  77. pmc Early assessment of ambiguous genitalia
    A L Ogilvy-Stuart
    Neonatal Unit, Rosie Hospital, Addenbrooke s NHS Trust, Cambridge CB2 2SW, UK
    Arch Dis Child 89:401-7. 2004
  78. pmc A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia
    M Ellaithi
    Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
    BMC Pediatr 6:11. 2006
    ..gene responsible of gonadal differentiation in the male and it is essential for the regular development of male genitalia. Translocations involving the human sex chromosomes are rarely reported, however here we are reporting a very ..
  79. ncbi Male-female conflict and genitalia: failure to confirm predictions in insects and spiders
    William G Eberhard
    Smithsonian Tropical Research Institute, and Escuela de Biología, Universidad de Costa Rica Ciudad Universitaria, Costa Rica
    Biol Rev Camb Philos Soc 79:121-86. 2004
    ..new models of arms races between males and females have been responsible for rapid divergent evolution of male genitalia. The test revolves around the prediction that 'new arms races' are less likely to occur in species in which ..
  80. ncbi X-linked lissencephaly with absent corpus callosum and ambiguous genitalia
    W B Dobyns
    Departments of Human Genetics, Neurology, and Pediatrics, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet 86:331-7. 1999
    ..neonatal-onset epilepsy, hypothalamic dysfunction including deficient temperature regulation, and ambiguous genitalia in genotypic males...
  81. ncbi Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia
    Richard I Kelley
    Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet 110:95-102. 2002
    ..fusion of the calvarial sutures, severe midface hypoplasia, proptosis, choanal atresia, and, in some, ambiguous genitalia. Of fewer than 40 patients described to date, most have been sporadic, although reports of parental ..
  82. ncbi A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines
    G Gimelli
    Laboratorio di Citogenetica, Istituto G Gaslini, Largo G Gaslini 5, 16148 Genova, Italy
    Eur J Med Genet 50:264-73. 2007
    ..in fibroblasts but not in lymphocytes, found in a child with malformations, mental retardation and ambiguous genitalia. Cytogenetic and molecular analysis showed that the supernumerary invdup(3)(q22...
  83. pmc Surgical management of ambiguous genitalia
    L Rangecroft
    Department of Paediatric Surgery, The Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK
    Arch Dis Child 88:799-801. 2003
    The surgical management of children born with ambiguous genitalia has always been difficult, subject to evolving attitudes and techniques, and at times controversial...
  84. ncbi The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study
    Catherine L Minto
    Elizabeth Garrett Anderson Hospital, Department of Obstetrics and Gynaecology, University College London Hospitals NHS Trust, London, UK
    Lancet 361:1252-7. 2003
    ..For infants with intersex conditions and ambiguous genitalia being raised female, this surgery is often undertaken in early childhood...
  85. ncbi Epidemiology and initial management of ambiguous genitalia at birth in Germany
    Ute Thyen
    Department of Pediatrics, University Medical Centre Schleswig Holstein, Campus Lubeck, Lubeck, Germany
    Horm Res 66:195-203. 2006
    In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies.
  86. ncbi Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data
    Isabel M Smith
    Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:248-56. 2005
    ..Results are discussed with reference to the challenges inherent in the diagnosis of autism in individuals with sensory impairments, and to the implications for understanding the etiology of CHARGE syndrome and of ASD...
  87. ncbi Exclusion of PITX2 mutations as a major cause of CHARGE association
    Donna M Martin
    Department of Pediatrics, The University of Michigan Medical School, Ann Arbor 48109 0688, USA
    Am J Med Genet 111:27-30. 2002
    ..Together, these data indicate that PITX2 mutations are unlikely to be a major contributing cause of the multiple anomalies present in individuals with CHARGE...
  88. ncbi Prenatal sexing and sex determination in infants with ambiguous genitalia by polymerase chain reaction
    L Caenazzo
    Institute of Legal Medicine, University of Padua, Italy
    Genet Test 1:289-91. 1997
    Sex determination in both fetuses and infants with ambiguous external genitalia usually necessitates time-consuming and costly karyotyping...
  89. ncbi Autistic-like behavior in CHARGE syndrome
    Timothy S Hartshorne
    Psychology Department, Central Michigan University, Mount Pleasant, Michigan 48859, USA
    Am J Med Genet A 133:257-61. 2005
    ..However, the variance for CHARGE was larger than for the normative groups, and 27.5% of those with CHARGE could be classified as autistic. The pattern of subscale scores for those with CHARGE differed from the other normative groups...
  90. ncbi Scoliosis in CHARGE: a prospective survey and two case reports
    Crystal Doyle
    IWK Health Centre, Halifax, Nova Scotia
    Am J Med Genet A 133:340-3. 2005
    ....
  91. ncbi Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association
    Cammon B Arrington
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 133:326-30. 2005
    ..Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association...
  92. ncbi Factors related to the development of communication in CHARGE syndrome
    James W Thelin
    Department of Audiology and Speech Pathology, University of Tennessee, Knoxville, Tennessee 37996 0740, USA
    Am J Med Genet A 133:282-90. 2005
    ..Other factors that may be related to the development of symbolic language are also discussed...
  93. ncbi CHARGE syndrome "behaviors": challenges or adaptations?
    David Brown
    California Deaf Blind Services, San Francisco, California 94112, USA
    Am J Med Genet A 133:268-72. 2005
  94. ncbi Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome
    Jan P M van Dijk
    Am J Med Genet A 133:273-7. 2005
  95. ncbi Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options
    Veronika Bernstein
    Deafblind Program, Perkins School for the Blind, Watertown, Massachusetts 02742, USA
    Am J Med Genet A 133:232-9. 2005
    ..The student, now 19 years old, has made progress in her educational program and has been able to experience more community integration...
  96. ncbi Ambiguous genitalia in neonates: a 4-year prospective study in a localized area
    A N Al-Mulhim
    Department of Paediatrics, Maternity and Children Hospital, Hofuf, Saudi Arabia
    East Mediterr Health J 16:214-7. 2010
    This study aimed to determine the possible etiology ot ambiguous genitalia in 41 newborn intants at a referral hospital in Hofuf city, Saudi Arabia...
  97. ncbi Feeding difficulties in children with CHARGE syndrome: prevalence, risk factors, and prognosis
    Cindy Dobbelsteyn
    School of Human Communication Disorders, Dalhousie University, 5599 Fenwick Street, Halifax, Nova Scotia, Canada B3H 1R2
    Dysphagia 23:127-35. 2008
    ..The presence of these conditions in infancy suggests the likelihood of long-term feeding difficulty and warrants the ongoing attention of feeding specialists...
  98. ncbi Can specific deficits in executive functioning explain the behavioral characteristics of CHARGE syndrome: a case study
    Jude Nicholas
    Vestlandet Resource Center, Bergen, Norway
    Am J Med Genet A 133:300-5. 2005
    ..This case also highlights the importance of evaluating executive function in children with CHARGE, which is particularly useful in efficiently identifying needs for direct intervention...
  99. ncbi Adaptive behavior in children with CHARGE syndrome
    Nancy Salem-Hartshorne
    Department of Psychology, Central Michigan University, Mount Pleasant, Michigan 48858, USA
    Am J Med Genet A 133:262-7. 2005
    ..Adaptive behavior scores from both studies revealed a much broader and higher-reaching range of ability for this population than has been previously reported in the literature...
  100. ncbi [CHARGE syndrome]
    Tadashi Matsumoto
    Department of Nursing, Nagasaki University School of Medicine
    Nihon Rinsho . 2006
  101. ncbi Behavioral features of CHARGE syndrome: parents' perspectives of three children with CHARGE syndrome
    Kimberly Lauger
    Arizona Deafblind Project, Tucson, Arizona 85754, USA
    Am J Med Genet A 133:291-9. 2005
    ..We remain hopeful that answers can be found that will help our children and our families cope with this very debilitating feature of CHARGE...

Research Grants64

  1. MALE UROGENITAL FUNCTION AND CHRONIC SPINAL CORD INJURY
    Charles Hubscher; Fiscal Year: 2009
    ..circuits mediating perineal muscle function and (iii) loss of ascending and descending connections between the genitalia/pelvic organs and the medullary reticular formation...
  2. Feto-maternal DNA/RNA Trafficking: Biology and Application
    Diana W Bianchi; Fiscal Year: 2013
    ..in X-linked conditions, in fetuses at risk for congenital adrenal hyperplasia, and in fetuses with ambiguous genitalia. We will also examine the significance of levels of total cell-free DNA as a noninvasive marker of tissue ..
  3. Transcriptional mechanisms of lower urinary tract development
    Gerald Mingin; Fiscal Year: 2013
    ..by applicant): Congenital abnormalities of the upper (kidney) and lower (ureter, bladder, urethra and external genitalia) urinary tracts are diagnosed at a rate of 1 in 500 prenatal ultrasounds...
  4. A Developmental And Molecular Investigation Of How Vitamin E Ameliorates Endocrin
    Krista McCoy; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): In the last 30 years, the incidence of birth defects affecting external genitalia has more than doubled...
  5. The role of Sprouty genes in development of mammalian external genitalia
    Ophir D Klein; Fiscal Year: 2012
    ..with will be critical to understanding the cellular mechanisms underlying malformations of the external genitalia. Sprouty (Spry) genes are important inhibitors of RTK signaling molecules, including FGFs...
  6. Gene Dosage in Mammalian Sexual Development
    ERIC J VILAIN; Fiscal Year: 2013
    ..cause defects in gonadal function and can result in a spectrum of abnormalities in the internal and external genitalia, ranging from mild sexual ambiguities to complete sex reversal...
  7. Lymphatic Filariasis Transmission and Elimination in Papua New Guinea
    Daniel J Tisch; Fiscal Year: 2013
    ..bore parasitic worm "Neglected Tropical Disease" (NTD) that causes elephantiasis, disfigurement of the male genitalia and painful swelling of the extremities...
  8. Human Papillomavirus Infection in Perinatally HIV-infected Adolescents in Asia
    Annette H Sohn; Fiscal Year: 2013
    ..Detecting HPV infection in the cervix, vagina, anus, oral cavity, and male genitalia soon after sexual debut and monitoring virus clearance and cervical intraepithelial neoplasia over time will ..
  9. Prenatal androgen exposure: adverse effects and novel treatment strategies.
    FARAH H MORGAN; Fiscal Year: 2010
    ..Treated and untreated control and PNA mice will be evaluated for hormone levels, altered external genitalia, pubertal onset, altered estrous cyclicity, fertility, and glucose tolerance...
  10. Role of T-box Genes in Mouse Development
    Virginia E Papaioannou; Fiscal Year: 2013
    ..Interesting expression patterns of T-box genes have been uncovered in the gonads and external genitalia and also in the pancreas during islet development...
  11. Molecular Mechanism of Human Fetal Testis Susceptibility to Endocrine Disruption
    Kim Boekelheide; Fiscal Year: 2013
    ..According to this hypothesis, the observed abnormalities-including malformed external genitalia (hypospadias), undescended testis (cryptorchidism), spermatogenic defects, and testis germ cell cancer-result ..
  12. Targets of Endocrine Disruptors in External Genitalia
    Martin J Cohn; Fiscal Year: 2013
    ..The most common anomaly of the genitourinary system is hypospadias, a malformation of the external genitalia that is characterized by failure of urethral tube closure and incomplete formation of the prepuce (foreskin) and ..
  13. Hypospadias: Morphogenesis of the Proximal Urethra
    Christine E Larkins; Fiscal Year: 2013
    ..However, in spite of recent progress in understanding external genitalia development it is still not clear exactly how genetic or environmental signals are influencing external ..
  14. Improving Outcomes in DSD
    Amy B Wisniewski; Fiscal Year: 2012
    ..of sex development (DSD) have been assigned a sex of rearing based largely on the appearance of their external genitalia because;(1) this dictated what surgical procedures were optimal for cosmetic reconstruction, and (2) the genital ..
  15. MIS Regulation of Leydig Cell Development
    MARY MIN CHIN LEE; Fiscal Year: 2010
    ..concept that testosterone-dependent differentiation of male reproductive structures (internal and external genitalia) and Mullerian Inhibiting substance (MlS)-mediated regression of the female anlagen (Mullerian ducts) are ..
  16. 3D imaging and deep sequencing of gene expression in the genital tubercle
    Martin J Cohn; Fiscal Year: 2013
    ..applicant): The most common anomaly of the genitourinary system is hypospadias, a malformation of the external genitalia that is characterized by failure of urethral tube closure and incomplete formation of the prepuce (foreskin) and ..
  17. Hypospadias Differentiation and Endocrine Disrupters
    Laurence Baskin; Fiscal Year: 2013
    ..Furthermore, male external genitalia (ExG) differentiation may not be solely a function of androgens but also influenced by estrogens...
  18. Acquisition of Bacterial Vaginosis in Lesbians
    Jeanne M Marrazzo; Fiscal Year: 2010
    ..sexual behavior and failure of BV to resolve in women, supporting the hypothesis that BVAB colonization of male genitalia may serve as a reservoir for re-infection of female partners...
  19. Characterizing the role of male circumcision in HIV sexual transmission
    MINH HIEN TRUONG DINH; Fiscal Year: 2013
    ..Circumcised and uncircumcised male macaque genitalia will be inoculated with photoactivatable HIV-1 to study initial interactions in a living model...
  20. 2010 REPRODUCTIVE TRACT BIOLOGY GORDON RESEARCH CONFERENCE
    Richard R Behringer; Fiscal Year: 2010
    ..genital ducts and associated organs (oviduct, uterus, and vagina, epididymis, vas deferens, prostate), external genitalia, and the organ of fetal-maternal interaction, the placenta...
  21. EXTERNAL GENITALIA DEVELOPMENT AND HYPOSPADIAS
    Liang Ma; Fiscal Year: 2013
    ..pathways, Shh and Wnt in both early androgen-independent and late sexually dimorphic phases of external genitalia development...
  22. CONSEQUENCES OF MALE LH RECEPTOR GENE KNOCKOUT
    Zhenmin Lei; Fiscal Year: 2002
    ..The external and internal genitalia of homozygous males were grossly underdeveloped and spermatogenesis was arrested at the spermatocytes...
  23. A Genomic Analysis of Sexual Trait Variation Within and Between Species
    STUART JOHN MACDONALD; Fiscal Year: 2013
    ..Rapid evolution is a general feature of male genitalia in animals, and the posterior lobe also exhibits significant within-species variation...
  24. ACCEPTABILITY AND SAFETY STUDY OF JANESWAY FEMALE CONDOM
    Ron Frezieres; Fiscal Year: 2000
    ..The underwear anchors the condom liner during intercourse completely shielding the external genitalia. This prospective crossover study will enroll thirty-five couples not at-risk of pregnancy to use three condoms ..
  25. Clinical Basis Investigations into MLS/Leopard Syndrome
    Theresa Pacheco; Fiscal Year: 2007
    ..ECG abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness...
  26. Cytotoxic T-Cell Responses to HSV in HIV-Infected Persons
    Jia Zhu; Fiscal Year: 2013
    ..developed rigorous and specific sampling methods to precisely pinpoint the sites of HSV-2 reactivation in the genitalia in time and space...
  27. ETIOLOGY, HORMONAL CRITERIA OF 3 BETA HSD DEFICIENCY
    Songya Pang; Fiscal Year: 2002
    ..3b-HSD) deficiency (def) congenital adrenal hyperplasia (CAH) ranges from the severe form manifesting ambiguous genitalia, salt-wasting, and hypogonadism to the less severe form manifesting premature pubarche (PP), pubertal onset ..
  28. Novel therapy for female sexual dysfunction
    Garry Southan; Fiscal Year: 2001
    ..Topical application of traditional nitric oxide donors to the female genitalia, however, produces profound systemic side effects, including headache and hypotension...
  29. Hypospadias: Interactions of Sex Steroids and Fgfr2
    Martin Cohn; Fiscal Year: 2006
    Hypospadias is a congenital malformation of the external genitalia that is characterized by a failure of urethral tube closure and incomplete formation of the prepuce and ventral penis...
  30. IN SITU HYBRIDIZATION IN PRENATAL DIAGNOSIS
    Kenneth Castleman; Fiscal Year: 1993
    ..sex determination will also assist situations involving newborns with multiple congenital anomalies or ambiguous genitalia, suggesting possible trisomy...
  31. PATTERNS OF BEHAVIORAL AND HORMONAL DEVELOPMENT
    STEPHEN GLICKMAN; Fiscal Year: 2006
    ..the brain, is designed to examine the following hypotheses: (1) Differentiation and development of the external genitalia of the spotted hyena are driven, either by an androgen-independent process, or by "unusual" steroids (e.g...
  32. AGREEMENT AND POSSIBLE BIAS IN SEXUAL ABUSE EXAMINATIONS
    JAN PARADISE; Fiscal Year: 1993
    ..genital abnormalities in 14 cases each consisting of a brief history and a colposcopic photograph of a girl's genitalia, and to rate in each case the consistency of the findings with a diagnosis of sexual abuse...
  33. GENE REGULATION IN MAMMALIAN SEX DETERMINATION
    Holly Ingraham; Fiscal Year: 2000
    ..secretion of MIS results in the regression or "cell death" of the Mullerian duct, the anlagen of internal female genitalia. Thus, regulation of MIS gene expression is directly coupled to the differentiation of the Sertoli cell and the ..
  34. The role of FoxA1 and FoxA2 in development of the anogenital system
    SARA ELIZABETH PATTERSON; Fiscal Year: 2009
    ..2)Test the hypothesis that late FoxAl and FoxA2 are required for patterning the external genitalia. We will delete FoxA2 in the developing genitalia during later patterning stages to determine temporal role of ..
  35. Transcriptional regulation of bladder-ureter development
    H Stadler; Fiscal Year: 2007
    ..dominant disorders that profoundly affect the development of the limb, bladder, ureter, uterus, and external genitalia. In mice, the GU function(s) of Hoxa 13 are conserved, as mutations in Hoxa 13 also cause malformations of the ..
  36. GENE INVOLVED IN SEX REVERSAL MAPS TO CHROMOSOME 9P
    WENDY FLEIJTER; Fiscal Year: 1999
    ..with a number of congenital malformations, including various degrees of sex reversal ranging from ambiguous genitalia to complete sex reversal...
  37. Cell Signaling and Lineage During Penile Development
    Martin Cohn; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Development of external genitalia requires tight coordination of proximodistal outgrowth, three-dimensional patterning and tubular morphogenesis...
  38. Medical anthropological approaches to gender confusion
    SHERINE HAMDY; Fiscal Year: 2004
    ..specific to confusion over one?s gender identity) and intersexuality (a condition in which sex chromosomes, genitalia, and/or secondary sex characteristics are neither clearly male nor female)...
  39. Short-term outcomes of interventions for reproductive dysfunction
    Amy B Wisniewski; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Whether or not to surgically correct ambiguous genitalia to be more female- or male-typical with genitoplasty is an area of pediatric medicine that is highly controversial...
  40. PRENATAL EXPOSURE TO HORMONES IN MAN AND ANIMAL
    JUNE REINISCH; Fiscal Year: 1980
    ..19NET), the most androgenic and potent of the synthetic progestins causing masculinization of the external genitalia in approximately 18 percent of exposed female offspring...
  41. PHTHALATE-INDUCED MURINE TESTICULAR DYSGENESIS AND P53
    Kim Boekelheide; Fiscal Year: 2007
    ..According to Skakkebaek, the observed abnormalities-including malformed external genitalia (hypospadias), undesecended testis (cryptorchidism), spermatogenic defects, and testis germ cell cancer- result ..
  42. AMBIGUOUS GENITALIA CONFERENCE
    Maria New; Fiscal Year: 2002
    ..the applicant): The scientific conference scheduled for the first week of September 2001 is titled, "Ambiguous Genitalia In The Newborn: Genetics, Pathophysiology, Management, and Outcome," will be held in Gubbio, Italy...
  43. The Role of Ppk23 in Drosophila salt taste
    Peter Cameron; Fiscal Year: 2009
    ..gustatory neurons housed in sensory bristles that reside on the proboscis, legs, wings, internal mouthparts, and genitalia. There are 68 candidate Drosophila gustatory receptor genes that encode putative seven transmembrane domain G-..
  44. SEGMENTAL DIFFERENTIATION IN THE NERVOUS SYSTEM
    Eduardo Macagno; Fiscal Year: 1993
    ..It comprises the study of an interaction between the male genitalia and the two central ganglia that innervate it...
  45. HORMONE & PROSTAGLANDIN REGULATION OF STAR IN THE OVARY
    MARK MC LEAN; Fiscal Year: 2006
    ..disruptions of the StAR gene in mice cause all affected mice (male and female) to present with female external genitalia and exhibit premature death...
  46. MOLECULAR ANALYSIS OF ANDROGEN INSENSITIVITY
    Stuart Kupfer; Fiscal Year: 1993
    ..insensitivity syndrome, the clinical manifestations of which include either the female phenotype, ambiguous genitalia, or phenotypically normal male with infertility...
  47. Assessment of Penile Autonomic Innervation
    Claire Yang; Fiscal Year: 2007
    ..in the corpus cavernosum using standard clinical electrophysiological equipment modified for use in the male genitalia. The presence of electrical impulses, stimulated by activation of sympathetic fibers, will indicate the ..
  48. Genomic analysis of doublesex regulation in development of Drosophila genitalia
    JOHN PAUL MASLY; Fiscal Year: 2010
    ..The genital imaginal disc of Drosophila, from which the external genitalia and analia develop, offers a unique opportunity to investigate both how transcriptional networks direct gene ..
  49. Cognition, Androgens and Sexual Dimorphism
    Julianne Imperato McGinley; Fiscal Year: 2007
    ..Without androgens prenatally, the external genitalia will develop as female...
  50. Predictors of Quality of Life Following Vulvar Excision
    Wendy Likes; Fiscal Year: 2009
    ..The standard treatment, surgical excision of the affected area, physically alters the genitalia and potentially impairs QOL, particularly sexual function as a QOL domain...
  51. BIOCHEMICAL MECHANISM OF SEXUAL DIFFERENTIATION
    CHHANDA GUPTA; Fiscal Year: 1993
    ..e. disruption of the differentiation of internal genitalia, which was not observed with the indirect in vivo exposure; (2) to investigate whether PGE2 modulates ornithine ..
  52. REGULATION OF HUMAN ALDOSTERONE SYNTHASE
    Perrin White; Fiscal Year: 2002
    ..These studies should provide insight into mechanisms underlying a genetic risk factor for cardiovascular disease. ..
  53. MOLECULAR GENETICS OF LOW RENIN HYPERTENSION
    Perrin White; Fiscal Year: 2001
    ..The investigators will determine the role of 11-HSD K in the development of essential hypertension, using both linkage and association studies. ..
  54. Biochemical Basis of Cortisone Reductase Deficiency
    Perrin White; Fiscal Year: 2007
    ..Subsets of the genotyping data will be analyzed as an association study, as an affected sib pair study, and by transmission disequilibrium testing. Additional polymorphisms in these genes will be sought in PCOS subjects. ..
  55. Functions of Very Large G-protein Coupled Receptor-1
    Perrin White; Fiscal Year: 2008
    ..We are specifically interested in the other proteins with very large ectodomains, protocadherin- 15 and cadherin-23. These studies should shed new light on mechanisms controlling development of the retina and inner ear. ..
  56. Insulin Producing Cells from Amniotic Stem Cells for Diabetes Therapy
    Anthony Atala; Fiscal Year: 2009
    ..Successful development of an abundant source of transplantable insulin producing cells potentially would have a profound impact on the treatment of a major public health problem. ..
  57. PERIODONTAL DISEASE:ROLE OF ABERRANT Ig GLYCOSYLATION
    Jiri Mestecky; Fiscal Year: 2006
    ..Results of these studies will generate information concerning previously unexplored inflammatory pathways that participate in the development of PD. ..
  58. Familial IgA Nephropathy: Genetic and Metabolic Studies
    Jiri Mestecky; Fiscal Year: 2006
    ..abstract_text> ..
  59. BIOENGINEERING OF BLADDER TISSUES
    Anthony Atala; Fiscal Year: 2003
    ..In this aim we will attempt to determine the phenotypic and functional characteristics, over time, of the bioengineered bladder tissues, as compared to controls. ..
  60. Symposium on Challenging Behavior in CHARGE Syndrome
    TIMOTHY HARTSHORNE; Fiscal Year: 2003
    ..abstract_text> ..
  61. Androgenic And Antiandorgenic Interactions Of PC-SPES
    CHARLES ROSELLI; Fiscal Year: 2002
    ..Specific Aim 3: To evaluate the effect of PCSPES on Cytochrome P450-mediated metabolism of androgenic and antiandrogenic drugs by the liver, in order to identify possible interactions of PC-SPES with other hormone therapies. ..
  62. Injury from Sexual Assault: Addressing Health Disparity
    Marilyn S Sommers; Fiscal Year: 2010
    ..Public Health Relevance: Violence against women is a silent epidemic. The forensic exam used to collect evidence after rape needs to be equally sensitive for females with dark skin as well as females with light skin. ..
  63. Calorie Restriction Effects on Chromosomal Aberrations
    CHARLEEN MOORE; Fiscal Year: 2003
    ..The results will be essential in identifying potential mechanisms by which CR acts in cancer prevention and delay of the aging process in long-lived species such as the rhesus monkey and humans. ..