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  1. Article ; Online: Kidney failure in Bardet-Biedl syndrome.

    Meyer, Jennifer R / Krentz, Anthony D / Berg, Richard L / Richardson, Jesse G / Pomeroy, Jeremy / Hebbring, Scott J / Haws, Robert M

    Clinical genetics

    2022  Volume 101, Issue 4, Page(s) 429–441

    Abstract: The aim of this study was to explore kidney failure (KF) in Bardet-Biedl syndrome (BBS), focusing on high-risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with ...

    Abstract The aim of this study was to explore kidney failure (KF) in Bardet-Biedl syndrome (BBS), focusing on high-risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with KF out of 607 subjects. Molecularly confirmed BBS was identified in 37 KF subjects and 364 CRIBBS registrants. KF was concomitant with recessive causal variants in 12 genes, with BBS10 the most predominant causal gene (26.6%), while disease penetrance was highest in SDCCAG8 (100%). Two truncating variants were present in 67.6% of KF cases. KF incidence was increased in genes not belonging to the BBSome or chaperonin-like genes (p < 0.001), including TTC21B, a new candidate BBS gene. Median age of KF was 12.5 years, with the vast majority of KF occurring by 30 years (86.3%). Females were disproportionately affected (77.3%). Diverse uropathies were identified, but were not more common in the KF group (p = 0.672). Kidney failure was evident in 11 of 15 (73.3%) deaths outside infancy. We conclude that KF poses a significant risk for premature morbidity in BBS. Risk factors for KF include female sex, truncating variants, and genes other than BBSome/chaperonin-like genes highlighting the value of comprehensive genetic investigation.
    MeSH term(s) Bardet-Biedl Syndrome/complications ; Bardet-Biedl Syndrome/genetics ; Chaperonins/genetics ; Child ; Female ; Humans ; Male ; Mutation ; Penetrance ; Renal Insufficiency/genetics
    Chemical Substances Chaperonins (EC 3.6.1.-)
    Language English
    Publishing date 2022-02-02
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14119
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 413: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: A network of allosterically coupled residues in the bacteriophage T4 Mre11-Rad50 complex.

    Gao, Yang / Meyer, Jennifer R / Nelson, Scott W

    Protein science : a publication of the Protein Society

    2016  Volume 25, Issue 11, Page(s) 2054–2065

    Abstract: The Mre11-Rad50 (MR) protein complex, made up of a nuclease and ATPase, respectively, is involved in the processing of double-strand breaks as part of an intricate mechanism for their repair. Although it is clear that the MR complex is subject to ... ...

    Abstract The Mre11-Rad50 (MR) protein complex, made up of a nuclease and ATPase, respectively, is involved in the processing of double-strand breaks as part of an intricate mechanism for their repair. Although it is clear that the MR complex is subject to allosteric regulation and that there is communication between the nuclease and ATPase active sites, the underlying mechanisms are poorly understood. We performed statistical coupling analysis on Mre11 and Rad50 to predict linked residues based on their evolutionary correlation. This analysis predicted a coevolving sector of six residues that may be allosterically coupled. The prediction was tested using double-mutant cycle analysis of nuclease and ATPase activity. The results indicate that a tyrosine residue located near the active site of Mre11 is allosterically coupled to several Rad50 residues located over 40 Å away. This allosteric coupling may be the basis for the reciprocal regulation of the ATPase and nuclease activities of the complex.
    MeSH term(s) Allosteric Regulation ; Bacteriophage T4/chemistry ; Bacteriophage T4/genetics ; Bacteriophage T4/metabolism ; Multiprotein Complexes/chemistry ; Multiprotein Complexes/genetics ; Multiprotein Complexes/metabolism ; Viral Proteins/chemistry ; Viral Proteins/genetics ; Viral Proteins/metabolism
    Chemical Substances Multiprotein Complexes ; Viral Proteins
    Language English
    Publishing date 2016-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1106283-6
    ISSN 1469-896X ; 0961-8368
    ISSN (online) 1469-896X
    ISSN 0961-8368
    DOI 10.1002/pro.3028
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3407: Show issues Location:
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    Zs.MO 1: Show issues

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  3. Article ; Online: Differentiation of Francisella tularensis Subspecies and Subtypes.

    Larson, Marilynn A / Sayood, Khalid / Bartling, Amanda M / Meyer, Jennifer R / Starr, Clarise / Baldwin, James / Dempsey, Michael P

    Journal of clinical microbiology

    2020  Volume 58, Issue 4

    Abstract: The highly infectious and zoonotic ... ...

    Abstract The highly infectious and zoonotic pathogen
    MeSH term(s) Francisella ; Francisella tularensis/genetics ; Humans ; Tularemia/diagnosis
    Language English
    Publishing date 2020-03-25
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 390499-4
    ISSN 1098-660X ; 0095-1137
    ISSN (online) 1098-660X
    ISSN 0095-1137
    DOI 10.1128/JCM.01495-19
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1188: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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