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  1. Book ; Thesis: Definition des Mutationsspektrums in seltenen hereditären Erkrankungen

    Jahić, Amir / Deufel, Thomas / Hübner, Christian / Clemen, Christoph Stephan

    2021  

    Institution Friedrich-Schiller-Universität Jena
    Author's details von Dr. med. Dr. med. univ. Amir Jahić
    Keywords Erbkrankheit ; Mutation
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten
    Language German
    Size circa 100 Seiten, Illustrationen, Diagramme, 30 cm
    Publishing place Jena
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Habilitationsschrift, Friedrich-Schiller-Universität Jena, 2021
    Note Kumulative Habilitationsschrift, enthält Zeitschriftenaufsätze. - Tag der Verteidigung: 17.06.2021
    HBZ-ID HT021156162
    Database Catalogue ZB MED Medicine, Health

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    2021 E 1409 order for loan Magazin

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  2. Article ; Online: SPAST

    Elert-Dobkowska, Ewelina / Stepniak, Iwona / Radziwonik-Fraczyk, Wiktoria / Jahic, Amir / Beetz, Christian / Sulek, Anna

    International journal of molecular sciences

    2024  Volume 25, Issue 9

    Abstract: The most common form of hereditary spastic paraplegia (HSP), SPG4 is caused by single nucleotide variants and microrearrangements in ... ...

    Abstract The most common form of hereditary spastic paraplegia (HSP), SPG4 is caused by single nucleotide variants and microrearrangements in the
    MeSH term(s) Humans ; Spastin/genetics ; Spastic Paraplegia, Hereditary/genetics ; Male ; Female ; Haploinsufficiency/genetics ; Pedigree ; DNA Copy Number Variations ; Adult ; Alu Elements/genetics ; Middle Aged ; Adolescent ; Young Adult ; Nonsense Mediated mRNA Decay
    Chemical Substances Spastin (EC 3.6.4.3) ; SPAST protein, human (EC 5.6.1.1)
    Language English
    Publishing date 2024-05-03
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms25095008
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  3. Article ; Online: Comprehensive analysis and mathematical modelling of hemolysis impacting on potassium levels in patients with and without renal impairment.

    Jahic, Amir / Prpic, Monika / Neuwinger, Nick / Kappert, Kai

    Clinical biochemistry

    2022  Volume 102, Page(s) 65–66

    MeSH term(s) Hematologic Tests ; Hemolysis ; Humans ; Potassium ; Renal Insufficiency
    Chemical Substances Potassium (RWP5GA015D)
    Language English
    Publishing date 2022-01-10
    Publishing country United States
    Document type Letter
    ZDB-ID 390372-2
    ISSN 1873-2933 ; 0009-9120
    ISSN (online) 1873-2933
    ISSN 0009-9120
    DOI 10.1016/j.clinbiochem.2022.01.002
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  4. Article: Aufklärung der pathobiochemischen Grundlagen für erbliche Axonopathien: Generierung und Analyse von genetischen Mausmodellen

    Jahic, Amir

    Klinische Chemie

    2016  Volume 47, Issue Beil. Juni "HJ. Staudinger Symp., Page(s) 23

    Language German
    Document type Article
    ZDB-ID 841078-1
    ISSN 0173-6647
    Database Current Contents Medicine

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  5. Article ; Online: Assessment of serum ferritin as a biomarker in COVID-19: bystander or participant? Insights by comparison with other infectious and non-infectious diseases.

    Kappert, Kai / Jahić, Amir / Tauber, Rudolf

    Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals

    2020  Volume 25, Issue 8, Page(s) 616–625

    Abstract: Background: The 2019 coronavirus disease (COVID-19) caused by the SARS-CoV-2 virus has an impact on all aspects of patient care. Serum ferritin generally represents a biomarker of choice when iron deficiency is suspected. However, ferritin is also an ... ...

    Abstract Background: The 2019 coronavirus disease (COVID-19) caused by the SARS-CoV-2 virus has an impact on all aspects of patient care. Serum ferritin generally represents a biomarker of choice when iron deficiency is suspected. However, ferritin is also an acute-phase-protein exhibiting elevated serum concentration in various inflammatory diseases. Here we focus on the role of serum ferritin for diagnostic and clinical management of patients with COVID-19 in comparison with other infectious and non-infectious diseases.
    Methods: We examined scientific articles listed in PubMed reporting on ferritin in various infectious and non-infectious diseases. We then compared these results with nine current COVID-19 ferritin reports published in 2020.
    Results: Several non-infectious, as well as non-COVID-19 infectious diseases, are characterised by a partly dramatic elevation of serum ferritin levels. All COVID-19 studies published between February and May 2020, which documented laboratory serum ferritin, indicate ferritin as a biomarker of COVID-19 severity in hospitalised patients.
    Conclusions: Serum ferritin may be considered both a prognostic and stratifying biomarker that can also contribute to therapeutic decision-making concerning patients with COVID-19. It should be emphasised, however, that most scientific reports refer to cohorts in the Asian region. Further validation in other cohorts is urgently required.
    MeSH term(s) Biomarkers/blood ; COVID-19/blood ; COVID-19/epidemiology ; COVID-19/virology ; Communicable Diseases/blood ; Communicable Diseases/diagnosis ; Female ; Ferritins/blood ; Humans ; Inflammation/blood ; Inflammation/diagnosis ; Male ; Pandemics ; Prognosis ; SARS-CoV-2/physiology ; Sensitivity and Specificity
    Chemical Substances Biomarkers ; Ferritins (9007-73-2)
    Keywords covid19
    Language English
    Publishing date 2020-11-24
    Publishing country England
    Document type Comparative Study ; Journal Article
    ZDB-ID 1324372-x
    ISSN 1366-5804 ; 1354-750X
    ISSN (online) 1366-5804
    ISSN 1354-750X
    DOI 10.1080/1354750X.2020.1797880
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  6. Article: Assessment of serum ferritin as a biomarker in COVID-19: bystander or participant? Insights by comparison with other infectious and non-infectious diseases

    Kappert, Kai / Jahic, Amir / Tauber, Rudolf

    Biomarkers

    Abstract: BACKGROUND: The 2019 coronavirus disease (COVID-19) caused by the SARS-CoV-2 virus has an impact on all aspects of patient care. Serum ferritin generally represents a biomarker of choice when iron deficiency is suspected. However, ferritin is also an ... ...

    Abstract BACKGROUND: The 2019 coronavirus disease (COVID-19) caused by the SARS-CoV-2 virus has an impact on all aspects of patient care. Serum ferritin generally represents a biomarker of choice when iron deficiency is suspected. However, ferritin is also an acute-phase-protein exhibiting elevated serum concentrations in various inflammatory diseases. Here we focus on the role of serum ferritin for diagnostic and clinical management of patients with COVID-19 in comparison with other infectious and non-infectious diseases.METHODS: We examined scientific articles listed in PubMed reporting on ferritin in various infectious and non-infectious diseases. We then compared these results with nine current COVID-19 ferritin reports published in 2020.RESULTS: Several non-infectious as well as non-COVID-19 infectious diseases are characterized by a partly dramatic elevation of serum ferritin levels. All COVID-19 studies published between February and May 2020, which documented laboratory serum ferritin, indicate ferritin as a diagnostic biomarker of COVID-19 severity in hospitalized patients.CONCLUSIONS: Serum ferritin may be considered both a prognostic and stratifying biomarker that can also contribute to therapeutic decision-making concerning patients with COVID-19. It should be emphasized, however, that most scientific reports refer to cohorts in the Asian region. Further validation in other cohorts is urgently required.
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #670713
    Database COVID19

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  7. Article ; Online: Assessment of serum ferritin as a biomarker in COVID-19

    Kappert, Kai / Jahić, Amir / Tauber, Rudolf

    Biomarkers

    bystander or participant? Insights by comparison with other infectious and non-infectious diseases

    2020  , Page(s) 1–36

    Keywords Clinical Biochemistry ; Biochemistry ; Health, Toxicology and Mutagenesis ; covid19
    Language English
    Publisher Informa UK Limited
    Publishing country uk
    Document type Article ; Online
    ZDB-ID 1324372-x
    ISSN 1354-750X
    ISSN 1354-750X
    DOI 10.1080/1354750x.2020.1797880
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.

    Jahic, Amir / Hinreiner, Sophie / Emberger, Werner / Hehr, Ute / Zuchner, Stephan / Beetz, Christian

    Human mutation

    2017  Volume 38, Issue 3, Page(s) 275–278

    Abstract: Deletions and duplications of genomic DNA contribute to evolution, phenotypic diversity, and human disease. The underlying mechanisms are incompletely understood. We identified deletions of exon 10 of the SPAST gene in two unrelated families with ... ...

    Abstract Deletions and duplications of genomic DNA contribute to evolution, phenotypic diversity, and human disease. The underlying mechanisms are incompletely understood. We identified deletions of exon 10 of the SPAST gene in two unrelated families with hereditary spastic paraplegia. We excluded a founder event, but observed that the breakpoints map to identical repeat regions. These regions likely represent an intragenic "doublet," that is, an enigmatic class of local duplications. The fusion sequences for both deletions are compatible with recombination-based as well as with replication-based mechanisms. Searching the literature, we identified a partial SLC24A4 deletion that involved two copies of another doublet, and was likely formed in an analogous way. Comparing the SPAST and the SLC24A4 doublets with doublets identified previously suggested that many additional doublets have a high potential for triggering rearrangements. Considering that doublets are still being formed in the human genome, and that they likely create high local instability, we suggest that a two-step mechanism consisting of doublet generation and subsequent doublet-mediated deletion/duplication may underlie certain copy-number changes for which other mechanisms are currently assumed. Further studies are necessary to delineate the significance of the thus-far understudied doublets for the formation of copy-number variation.
    MeSH term(s) Alleles ; Antiporters/genetics ; Base Sequence ; Chromosome Breakpoints ; DNA Copy Number Variations ; Exons ; Gene Rearrangement ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Sequence Deletion ; Spastin/genetics
    Chemical Substances Antiporters ; SLC24A4 protein, human ; Spastin (EC 3.6.4.3) ; SPAST protein, human (EC 5.6.1.1)
    Language English
    Publishing date 2017-01-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.23162
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    Zs.A 3586: Show issues Location:
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  9. Article ; Online: A polymorphic Alu insertion that mediates distinct disease-associated deletions.

    Jahic, Amir / Erichsen, Anne K / Deufel, Thomas / Tallaksen, Chantal M / Beetz, Christian

    European journal of human genetics : EJHG

    2016  Volume 24, Issue 9, Page(s) 1371–1374

    Abstract: Large deletions that are associated with insertions of Alu-derived sequence represent a rare, but potentially unique class of alterations. Whether they form by a one-step mechanism or by a primary insertion step followed by an independent secondary ... ...

    Abstract Large deletions that are associated with insertions of Alu-derived sequence represent a rare, but potentially unique class of alterations. Whether they form by a one-step mechanism or by a primary insertion step followed by an independent secondary deletion step is not clear. We resolved two disease-associated SPAST deletions, which involve distinct exons by long range PCR. Alu-derived sequence was observed between the breakpoints in both cases. The intronic regions that represent the targets of potentially involved Alu retrotransposition events overlapped. Microsatellite- and SNP-based haplotyping indicated that both deletions originated on one and the same founder allele. Our data suggest that the deletions are best explained by two-step insertion-deletion scenarios for which a single Alu retrotransposition event represents the shared primary step. This Alu then mediated one of the deletions by non-homologous end joining and the other by non-allelic homologous recombination. Our findings thus strongly argue for temporal separation of insertion and deletion in Alu insertion-associated deletions. They also suggest that certain Alu integrations confer a general increase in local genomic instability, and that this explains why they are usually not detected during the probably short time that precedes the rearrangements they mediate.
    MeSH term(s) Adenosine Triphosphatases/genetics ; Alleles ; Alu Elements/genetics ; Chromosome Breakpoints ; Exons ; Gene Deletion ; Homologous Recombination ; Humans ; Mutagenesis, Insertional ; Paraplegia/diagnosis ; Paraplegia/genetics ; Polymorphism, Genetic ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/genetics ; Spastin
    Chemical Substances Adenosine Triphosphatases (EC 3.6.1.-) ; Spastin (EC 3.6.4.3) ; SPAST protein, human (EC 5.6.1.1)
    Language English
    Publishing date 2016-03-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2016.20
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    Zs.A 3589: Show issues Location:
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  10. Article ; Online: Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts.

    Jahic, Amir / Bock, Andrea / Duca, Franz / Bonderman, Diana / Mascherbauer, Julia / Windhager, Reinhard / Auer-Grumbach, Michaela / Beetz, Christian

    Molecular and cellular probes

    2018  Volume 41, Page(s) 61–63

    Abstract: TTR amyloidosis (ATTR) is a fatal condition caused by extracellular deposits of misfolded transthyretin. Patients often present with cardiac disease, but manifestations may also involve other organs including the peripheral nervous system. ATTR is ... ...

    Abstract TTR amyloidosis (ATTR) is a fatal condition caused by extracellular deposits of misfolded transthyretin. Patients often present with cardiac disease, but manifestations may also involve other organs including the peripheral nervous system. ATTR is considered familial when heterozygous mutations in the TTR gene are present (ATTRmutant or ATTRm), or acquired when no TTR aberrations are detected (ATTRwildtype or ATTRwt). We hypothesized that TTR copy number variants (CNVs), which would escape the standard diagnostic approaches, contribute to ATTR-related phenotypes, and developed a multiplex ligation-dependent probe amplification-based (MLPA-based), TTR-specific copy number screening tool. High inter-sample and intra-sample homogeneity of MLPA signals and the expected drop in signal intensity for restriction digest-based positive controls validated this tool. Subsequent application to 13 patients diagnosed with ATTRwt, and to 93 patients presenting with late onset and presumably inherited polyneuropathy did not identify TTR CNVs. We discuss insufficient sensitivity of the assay as well as non-existence and non-pathogenicity of TTR CNVs as potentially underlying our negative finding, but suggest size and composition of our cohorts as more likely explanations. Our CNV-screening tool will be made available to initiatives interested in screening additional and potentially more appropriate patient samples.
    MeSH term(s) Aged ; Aged, 80 and over ; Cohort Studies ; Female ; Gene Dosage ; Humans ; Male ; Middle Aged ; Prealbumin/genetics ; Real-Time Polymerase Chain Reaction/methods
    Chemical Substances Prealbumin
    Language English
    Publishing date 2018-08-21
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Validation Study
    ZDB-ID 639082-1
    ISSN 1096-1194 ; 0890-8508
    ISSN (online) 1096-1194
    ISSN 0890-8508
    DOI 10.1016/j.mcp.2018.08.005
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