Journal Article Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers Get access Callum J.Bell, Callum J.Bell * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Marcia L.Budarf, Marcia L.Budarf Search for other works by this author on: Oxford Academic PubMed Google Scholar Bart W.Nieuwenhuijsen, Bart W.Nieuwenhuijsen 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Barry L.Barnoski, Barry L.Barnoski Search for other works by this author on: Oxford Academic PubMed Google Scholar Kenneth H.Buetow, Kenneth H.Buetow 2Fox Chase Cancer Center 7701 Burholme Avenue, Philadelphia, PA 19111–2412 Search for other works by this author on: Oxford Academic PubMed Google Scholar Keely Campbell, Keely Campbell Search for other works by this author on: Oxford Academic PubMed Google Scholar Angela M.E.Colbert, Angela M.E.Colbert 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Joelle Collins, Joelle Collins Search for other works by this author on: Oxford Academic PubMed Google Scholar Mark Daly, Mark Daly 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Philippe R.Desjardins, Philippe R.Desjardins 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar ... Show more Todd DeZwaan, Todd DeZwaan 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Barbara Eckman, Barbara Eckman 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Simon Foote, Simon Foote 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Kyle Hart, Kyle Hart 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Kevin Hiester, Kevin Hiester 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Marius J.Van Het Hoog, Marius J.Van Het Hoog 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Elizabeth Hopper, Elizabeth Hopper Search for other works by this author on: Oxford Academic PubMed Google Scholar Alan Kaufman, Alan Kaufman 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Heather E.McDermid, Heather E.McDermid 4Department of Biological Sciences, University of Alberta Edmonton, Alberta T6G 2E9, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar G.Christian Overton, G.Christian Overton 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Mary Pat Reeve, Mary Pat Reeve 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar David B.Searls, David B.Searls 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Lincoln Stein, Lincoln Stein 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Vinay H.Valmiki, Vinay H.Valmiki 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Edward Watson, Edward Watson Search for other works by this author on: Oxford Academic PubMed Google Scholar Sloan Williams, Sloan Williams Search for other works by this author on: Oxford Academic PubMed Google Scholar Rachel Winston, Rachel Winston 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Robert L. Nussbaum, Robert L. Nussbaum 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Eric S.Lander, Eric S.Lander 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Kenneth H.Fischbeck, Kenneth H.Fischbeck 1University of Pennsylvania School of Medicine, 415 Curie Boulevard Philadelphia, PA 19104–6146 Search for other works by this author on: Oxford Academic PubMed Google Scholar Beverly S.Emanuel, Beverly S.Emanuel Search for other works by this author on: Oxford Academic PubMed Google Scholar Thomas J.Hudson Thomas J.Hudson 3Center for Genome Research, Whitehead Institute for Biological Sciences/Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 1, January 1995, Pages 59–69, https://doi.org/10.1093/hmg/4.1.59 Published: 01 January 1995 Article history Received: 02 November 1994 Revision received: 02 November 1994 Accepted: 02 November 1994 Published: 01 January 1995
ABSTRACT A primary monolayer cell culture system was developed to investigate human corpus luteum (CL) function in vitro . Steroidogenic cells were isolated by collagenase dispersal and Percoll density-gradient fractionation from CLs enucleated at progressive stages of the luteal phase (tubal surgery patients). 'Pure' granulosa-lutein cells were aspirated from ovulatory follicles at mid-cycle (in-vitro fertilization patients). The steroidogenic capacity (progesterone/20α-dihydroprogesterone biosynthesis and aromatase activity) of isolated luteal cells was assessed in relation to CL development. Basal luteal cell steroidogenesis was maximal at around the expected time of ovulation and declined with CL age during the luteal phase. Conversely, human chorionic gonadotrophin (hCG)-responsive steroidogenesis was initially undetectable but developed as the luteal phase progressed. These results show that luteal cell steroidogenesis becomes increasingly dependent upon gonadotrophic support with CL age. This is evidence that functional luteolysis in human ovaries (1) is pre-programmed to occur at the cellular level, (2) is initiated automatically at the time of ovulation and (3) is reversed at the time of CL 'rescue' in early pregnancy by the direct action of trophoblastic hCG on steroidogenic luteal cells. The culture system described should be of value in further defining the control of human CL form and function at the cellular level. Journal of Endocrinology (1989) 122, 303–311
Mutations of splice sites, auxiliary splicing elements and the splicing machinery cause a wide range of genetic disease. Here we report that many of the complex effects of splicing mutations can be predicted from background splicing information, with emphasis on BRCA1, BRCA2 and DMD. Background splicing arises from very low level splicing between rarely used background splice sites and from low-level exon skipping between intron splice sites. We show how this information can be downloaded from the Snaptron database of spliced RNA, which we then compared with databases of human splice site mutations. We report that inactivating mutations of intron splice sites typically caused the non-mutated partner splice site to splice to a known background splice site in over 90% of cases and to the strongest background splice site in the large majority of cases. Consequently, background splicing information can usefully predict the effects of splice site mutations, which include cryptic splice activation and single or multiple exon skipping. In addition, de novo splice sites and splice sites involved in pseudoexon formation, recursive splicing and aberrant splicing in cancer show a 90% match to background splice sites, so establishing that the enhancement of background splicing causes a wide range of splicing aberrations. We also discuss how background splicing information can identify cryptic splice sites that might be usefully targeted by antisense oligonucleotides (ASOs) and how it might indicate possible multiple exon skipping side effects of ASOs designed to induce single exon skipping.
Human chorionic gonadotropin (HCG) may be injected to time ovulation and plan oocyte retrieval for clinical in vitro fertilization (IVF). Neither clinical nor experimental data on effects of subtle alterations in timing of the HCG injection on oocyte fertilizability in vitro were available. We induced follicular development in immature hybrid mice with an injection (4 IU) of pregnant mare serum gonadotropin (PMSG). In the first series of experiments, HCG was given 42, 46 or 50 hours later. We collected cumulus-enclosed, oviducal oocytes for IVF using capacitated mouse sperm 13 hours after the last HCG injection. The fertilization incidence (mean, three experiments) fell as the PMSG-HCG interval was reduced (50 hours, 64%; 46 hours, 40%; 42 hours 24%), but this could be explained by a corresponding increase in spontaneous oocyte activation caused by prolonging the HCG-oocyte collection interval. In the second series of experiments, the latter was fixed at 13 hours; the PMSG interval was altered by staggering the initial PMSG injection. No spontaneous activation occurred, but oocytes collected after "early" HCG injection still showed significantly lower fertilization incidences (42 hours, 36%; 46 hours, 46%) compared with the 50-hour injection (66%). The possible clinical implication of this finding is discussed.
This study tests the hypothesis that there is a different response after gonadotrophin-releasing hormone and human menopausal gonadotrophins (GnRH/HMG) stimulation for in-vitro fertilization (IVF) in patients with either a right or left ovary. A total of 56 cycles in 44 women after left oophorectomy (group A) was compared with 42 cycles in 29 women following right oophorectomy (group B). Tubal disease was the sole cause of infertility in all cases. The two groups were similar in age. There was no difference in total amount or days of HMG required for ovulation induction, peak oestradiol concentrations, number of oocytes retrieved and fertilization rate. The pregnancy rate was identical in the two groups (20.0 and 20.9% respectively). Our results indicate that with GnRH/HMG ovulation induction protocol for IVF there is no predilection of one ovary over the other.
The attitudes of 234 anonymous couples undergoing in vitro fertilization toward sperm and oocyte donation were explored by questionnaire. All the questionnaires were returned of which 222 (95%) were complete and analysed. A high proportion of couples found the use of donor sperm acceptable for therapeutic, diagnostic and treatment purposes (77%, 90% and 97% respectively) and 72%, 84% and 90% respectively were willing to donate oocytes for these purposes. Of potential oocyte donors 41% would agree to nonanonymous donation, 12% would wish to meet the recipient couple and although only 4% wanted to choose the recipient, a quarter of the couples would prefer a relative or friend as the recipient. Provision of nonidentifying information about the donor to the recipient couple was acceptable to almost 70% whereas 40% found giving the same information to the child acceptable.
Journal Article Results of IVF in patients with endometriosis: the severity of the disease does not affect outcome, or the incidence of miscarriage Get access S. Geber, S. Geber 1 Hammersmith Hospital, Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical SchoolLondon W12 ONN, UK 1To whom correspondence should be addressed at: Centro de Tecnologia em Genética e Reprodução Humana, R. dos Otoni 881/15°, CEP 30100 000 Belo Horizonte - MG, Brazil Search for other works by this author on: Oxford Academic PubMed Google Scholar T. Paraschos, T. Paraschos Hammersmith Hospital, Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical SchoolLondon W12 ONN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar G. Atkinson, G. Atkinson Hammersmith Hospital, Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical SchoolLondon W12 ONN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar R. Margara, R. Margara Hammersmith Hospital, Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical SchoolLondon W12 ONN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar R.M.L. Winston R.M.L. Winston Hammersmith Hospital, Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical SchoolLondon W12 ONN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Reproduction, Volume 10, Issue 6, 1 June 1995, Pages 1507–1511, https://doi.org/10.1093/HUMREP/10.6.1507 Published: 01 June 1995 Article history Received: 30 June 1994 Accepted: 18 April 1995 Published: 01 June 1995
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