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  1. Article: Q Camps.

    Franklin, Marjorie E

    Mental welfare

    2017  Volume 17, Issue 4, Page(s) 97–103

    Language English
    Publishing date 2017-09-14
    Publishing country England
    Document type Journal Article
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Metabolic responses of Vaccinium corymbosum L. cultivars to Al3+ toxicity and gypsum amendment

    Alarcón-Poblete, Edith / González-Villagra, Jorge / de Oliveira Silva, Franklin Magnum / Nunes-Nesi, Adriano / Inostroza-Blancheteau, Claudio / Alberdi, Miren / Reyes-Díaz, Marjorie

    Environmental and experimental botany. 2020 Aug., v. 176

    2020  

    Abstract: Highbush blueberry (Vaccinium corymbosum L.) is an important crop well adapted to acid soils, but sensitive to Al³⁺ toxicity. Gypsum amendments are frequently used to reduce Al³⁺ toxicity in V. corymbosum. However, little is known about the physiological ...

    Abstract Highbush blueberry (Vaccinium corymbosum L.) is an important crop well adapted to acid soils, but sensitive to Al³⁺ toxicity. Gypsum amendments are frequently used to reduce Al³⁺ toxicity in V. corymbosum. However, little is known about the physiological and metabolic responses to gypsum application in plants growing in the presence of Al³⁺ toxicity. Thus, we evaluated the mechanisms displayed by gypsum application at the metabolite levels in V. corymbosum cultivars growing under Al³⁺ toxicity. We characterized three cultivars (Brigitta, Legacy, and Bluegold) with different response mechanisms to Al³⁺ toxicity. Furthermore, four treatments were applied: (i) Acid substrate without Al (Control), (ii) Acid substrate + 1.4 g CaSO₄ kg⁻¹, (iii) Acid substrate + 0.9 g AlCl₃ kg⁻¹ and (iv) Acid substrate + 0.9 g AlCl₃ kg⁻¹ + 1.4 g CaSO₄ kg⁻¹. After ten days of treatment exposition, leaves, and roots were harvested for metabolite profiling analyses. Starch and amino acid concentrations in leaves and roots decreased in all cultivars growing under toxic Al³⁺ levels. However, gypsum amendment reduced Al concentration in leaves and roots, as well as increased Ca concentrations in leaves, and recovered amino acid and starch levels. In addition, metabolite profiling and multivariate analyses indicated that in roots, gamma-aminobutyric acid (GABA) might be a metabolite related to Al³⁺ toxicity. Taken together that gypsum amendment ameliorates the Al³⁺ toxicity, mainly in the cultivar Al-sensitive, Bluegold. The two Al-resistant cultivars (Legacy and Brigitta) showed distinct Al mechanisms (tolerance and exclusion, respectively).
    Keywords Vaccinium corymbosum ; acid soils ; aluminum ; aluminum chloride ; amino acid composition ; biochemical pathways ; calcium ; calcium sulfate ; cultivars ; gamma-aminobutyric acid ; gypsum ; leaves ; metabolites ; multivariate analysis ; roots ; starch ; toxicity
    Language English
    Dates of publication 2020-08
    Publishing place Elsevier B.V.
    Document type Article
    ZDB-ID 195968-2
    ISSN 0098-8472
    ISSN 0098-8472
    DOI 10.1016/j.envexpbot.2020.104119
    Database NAL-Catalogue (AGRICOLA)

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  3. Book: The foetal circulation and cardiovascular system, and the changes that they undergo at birth

    Barclay, Alfred E. / Franklin, Kenneth J. / Prichard, Marjorie M. L.

    1944  

    Author's details by Alfred E. Barclay ; Kenneth J. Franklin and Marjorie M. L. Prichard
    Language English
    Size xvi, 275 Seiten, Illustrationen
    Publisher Blackwell Scientific Publicatiions
    Publishing place Oxford
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT007870125
    Database Catalogue ZB MED Medicine, Health

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  4. Article ; Online: NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

    Nistala, Harikiran / Dronzek, John / Gonzaga-Jauregui, Claudia / Chim, Shek Man / Rajamani, Saathyaki / Nuwayhid, Samer / Delgado, Dennis / Burke, Elizabeth / Karaca, Ender / Franklin, Matthew C / Sarangapani, Prasad / Podgorski, Michael / Tang, Yajun / Dominguez, Melissa G / Withers, Marjorie / Deckelbaum, Ron A / Scheonherr, Christopher J / Gahl, William A / Malicdan, May C /
    Zambrowicz, Brian / Gale, Nicholas W / Gibbs, Richard A / Chung, Wendy K / Lupski, James R / Economides, Aris N

    Human molecular genetics

    2020  Volume 29, Issue 21, Page(s) 3516–3531

    Abstract: Neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability. ... ...

    Abstract Neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability. Microcephaly, progressive cortical atrophy, cerebellar hypoplasia and delayed myelination are neurological hallmarks in affected individuals. NMIHBA is caused by biallelic variants in PRUNE1 encoding prune exopolyphosphatase 1. We provide in-depth clinical description of two affected siblings harboring compound heterozygous variant alleles, c.383G > A (p.Arg128Gln), c.520G > T (p.Gly174*) in PRUNE1. To gain insights into disease biology, we biochemically characterized missense variants within the conserved N-terminal aspartic acid-histidine-histidine (DHH) motif and provide evidence that they result in the destabilization of protein structure and/or loss of exopolyphosphatase activity. Genetic ablation of Prune1 results in midgestational lethality in mice, associated with perturbations to embryonic growth and vascular development. Our findings suggest that NMIHBA results from hypomorphic variant alleles in humans and underscore the potential key role of PRUNE1 exopolyphoshatase activity in neurodevelopment.
    MeSH term(s) Acid Anhydride Hydrolases/deficiency ; Alleles ; Animals ; Child, Preschool ; Female ; Humans ; Infant ; Intellectual Disability/etiology ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Male ; Mice ; Microcephaly/etiology ; Microcephaly/metabolism ; Microcephaly/pathology ; Muscle Hypotonia/etiology ; Muscle Hypotonia/metabolism ; Muscle Hypotonia/pathology ; Mutation ; Neurodevelopmental Disorders/etiology ; Neurodevelopmental Disorders/metabolism ; Neurodevelopmental Disorders/pathology ; Pedigree ; Phenotype ; Phosphoric Monoester Hydrolases/genetics
    Chemical Substances PRUNE1 protein, human (EC 3.1.3.2) ; Phosphoric Monoester Hydrolases (EC 3.1.3.2) ; Acid Anhydride Hydrolases (EC 3.6.-) ; exopolyphosphatase (EC 3.6.1.11)
    Language English
    Publishing date 2020-10-25
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddaa237
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Book: Solid waste management and the paper industry

    Franklin, William E / Franklin, Marjorie A / Weber, Mary Ellen

    executive summary and overview

    1979  

    Institution Solid Waste Council of the Paper Industry
    Author's details by William E. Franklin, Marjorie A. Franklin, and Mary Ellen Weber. --
    Keywords Paper industry/Waste disposal. ; Factory and trade waste.
    Language English
    Size xiv, 279 p. :, ill.
    Publisher Franklin Associates
    Publishing place Prairie Village, Kan
    Document type Book
    Note "The study was sponsored by the Solid Waste Council of the Paper Industry."
    Database NAL-Catalogue (AGRICOLA)

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