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  1. Article: Interpretation of Bone Mineral Density Z-Scores by Dual-Energy X-Ray Absorptiometry in Transgender and Gender Diverse Youth Prior to Gender-Affirming Medical Therapy.

    Lee, Janet Y / Fan, Bo / Montenegro, Gabrielle / Long, Roger K / Sanda, Srinath / Capodanno, Gina / Schafer, Anne L / Burghardt, Andrew J / Rosenthal, Stephen M / Fung, Ellen B

    Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry

    2022  Volume 25, Issue 4, Page(s) 559–568

    MeSH term(s) Adolescent ; Humans ; Absorptiometry, Photon ; Transgender Persons ; Bone Density ; Osteoporosis/diagnostic imaging ; Osteoporosis/drug therapy ; Lumbar Vertebrae
    Language English
    Publishing date 2022-07-13
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2040951-5
    ISSN 1094-6950
    ISSN 1094-6950
    DOI 10.1016/j.jocd.2022.07.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5425: Show issues Location:
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  2. Article ; Online: Humanin (HN) and glucose transporter 8 (GLUT8) in pregnancies complicated by intrauterine growth restriction.

    Janzen, Carla / Lei, Margarida Y Y / Jeong, Il Seok D / Ganguly, Amit / Sullivan, Peggy / Paharkova, Vladislava / Capodanno, Gina / Nakamura, Hiromi / Perry, Alix / Shin, Bo-Chul / Lee, Kuk-Wha / Devaskar, Sherin U

    PloS one

    2018  Volume 13, Issue 3, Page(s) e0193583

    Abstract: Background: Intrauterine growth restriction (IUGR) results from a lack of nutrients transferred to the developing fetus, particularly oxygen and glucose. Increased expression of the cytoprotective mitochondrial peptide, humanin (HN), and the glucose ... ...

    Abstract Background: Intrauterine growth restriction (IUGR) results from a lack of nutrients transferred to the developing fetus, particularly oxygen and glucose. Increased expression of the cytoprotective mitochondrial peptide, humanin (HN), and the glucose transporter 8, GLUT8, has been reported under conditions of hypoxic stress. However, the presence and cellular localization of HN and GLUT8 in IUGR-related placental pathology remain unexplored. Thus, we undertook this study to investigate placental expression of HN and GLUT8 in IUGR-affected versus normal pregnancies.
    Results: We found 1) increased HN expression in human IUGR-affected pregnancies on the maternal aspect of the placenta (extravillous trophoblastic (EVT) cytoplasm) compared to control (i.e. appropriate for gestational age) pregnancies, and a concomitant increase in GLUT8 expression in the same compartment, 2) HN and GLUT8 showed a protein-protein interaction by co-immunoprecipitation, 3) elevated HN and GLUT8 levels in vitro under simulated hypoxia in human EVT cells, HTR8/SVneo, and 4) increased HN expression but attenuated GLUT8 expression in vitro under serum deprivation in HTR8/SVneo cells.
    Conclusions: There was elevated HN expression with cytoplasmic localization to EVTs on the maternal aspect of the human placenta affected by IUGR, also associated with increased GLUT8 expression. We found that while hypoxia increased both HN and GLUT8, serum deprivation increased HN expression alone. Also, a protein-protein interaction between HN and GLUT8 suggests that their interaction may fulfill a biologic role that requires interdependency. Future investigations delineating molecular interactions between these proteins are required to fully uncover their role in IUGR-affected pregnancies.
    MeSH term(s) Adult ; Cytoplasm/metabolism ; Female ; Fetal Growth Retardation/genetics ; Fetal Growth Retardation/metabolism ; Fetal Growth Retardation/pathology ; Glucose Transport Proteins, Facilitative/genetics ; Glucose Transport Proteins, Facilitative/metabolism ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Male ; Placenta/metabolism ; Placenta/pathology ; Pregnancy ; Protein Transport ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Trophoblasts/pathology ; Up-Regulation
    Chemical Substances Glucose Transport Proteins, Facilitative ; Intracellular Signaling Peptides and Proteins ; RNA, Messenger ; SLC2A8 protein, human ; humanin
    Language English
    Publishing date 2018-03-28
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0193583
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.

    Mendelsohn, Bryce A / Beleford, Daniah T / Abu-El-Haija, Aya / Alsaleh, Norah S / Rahbeeni, Zuhair / Martin, Pierre-Marie / Rego, Shannon / Huang, Alyssa / Capodanno, Gina / Shieh, Joseph T / Van Ziffle, Jessica / Risch, Neil / Alkuraya, Fowzan S / Slavotinek, Anne M

    American journal of medical genetics. Part A

    2019  Volume 182, Issue 3, Page(s) 513–520

    Abstract: We describe an 11-year old boy with severe global developmental delays, failure to thrive and growth retardation, refractory seizures with recurrent status epilepticus, hypogammaglobulinemia, hypergonadotropic hypogonadism, and duodenal strictures. He ... ...

    Abstract We describe an 11-year old boy with severe global developmental delays, failure to thrive and growth retardation, refractory seizures with recurrent status epilepticus, hypogammaglobulinemia, hypergonadotropic hypogonadism, and duodenal strictures. He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, and dry skin. Exome sequencing showed a hemizygous, truncating variant in RNF113A, c.903_910delGCAGACCA, predicting p.(Gln302fs*12), that was inherited from his mother. Although his clinical features overlap closely with features described in the two previously reported male first cousins with RNF113A loss of function mutations, the duodenal strictures seen in this patient have not been reported. Interestingly, the patient's mother had short stature and 100% skewed X-inactivation as seen in other obligate female carriers. A second male with developmental delays, microcephaly, seizures, ambiguous genitalia, and facial anomalies that included sparse and brittle hair, thin eyebrows and dry skin was recently reported to have c.897_898delTG, predicting p.(Cys299*) in RNF113A and we provide additional clinical details for this patient. This report further supports deleterious variants in RNF113A as a cause of a novel trichothiodystrophy syndrome.
    MeSH term(s) Child ; Child, Preschool ; DNA-Binding Proteins/genetics ; Female ; Genetic Association Studies ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology ; Genetic Predisposition to Disease ; Humans ; Male ; Mutation/genetics ; Trichothiodystrophy Syndromes/diagnosis ; Trichothiodystrophy Syndromes/genetics ; Trichothiodystrophy Syndromes/pathology ; X Chromosome Inactivation/genetics
    Chemical Substances DNA-Binding Proteins ; RNF113A protein, human
    Language English
    Publishing date 2019-12-27
    Publishing country United States
    Document type Case Reports ; Research Support, N.I.H., Extramural
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61450
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/A: Show issues Location:
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