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  1. Article ; Online: Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

    Boysen, Kirstine Bolette / Tümer, Zeynep / Bach-Holm, Daniella / Bisgaard, Anne-Marie / Kessel, Line

    Ophthalmic genetics

    2024  , Page(s) 1–6

    Abstract: Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, ...

    Abstract Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL. With this case report, we broaden the clinical spectrum of the phenotype.
    Materials and methods: Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES).
    Results: A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in COL11A1 in both affected individuals.
    Conclusions: We report a previously undescribed phenotype associated with a COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.
    Language English
    Publishing date 2024-02-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2024.2309700
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1708: Show issues Location:
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  2. Article: Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?

    Tümer, Zeynep

    Case reports in neurological medicine

    2015  Volume 2015, Page(s) 358605

    Language English
    Publishing date 2015-06-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2629909-4
    ISSN 2090-6676 ; 2090-6668
    ISSN (online) 2090-6676
    ISSN 2090-6668
    DOI 10.1155/2015/358605
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  3. Article ; Online: Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners.

    Levy, Amanda M / Gomez-Puertas, Paulino / Tümer, Zeynep

    International journal of molecular sciences

    2022  Volume 23, Issue 8

    Abstract: The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role as it organizes key PSD components essential for synaptic ... ...

    Abstract The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role as it organizes key PSD components essential for synaptic signaling, development, and survival. Recently, variants in
    MeSH term(s) Disks Large Homolog 4 Protein/genetics ; Disks Large Homolog 4 Protein/metabolism ; Humans ; Intellectual Disability/metabolism ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/metabolism ; Phenotype ; Post-Synaptic Density/metabolism ; Synapses/metabolism
    Chemical Substances DLG4 protein, human ; Disks Large Homolog 4 Protein
    Language English
    Publishing date 2022-04-15
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms23084390
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  4. Article ; Online: A deep intronic DLG4 variant resulting in DLG4-related synaptopathy.

    Levy, Amanda M / Ganapathi, Mythily / Chung, Wendy K / Tümer, Zeynep

    Clinical genetics

    2023  Volume 105, Issue 1, Page(s) 77–80

    Abstract: The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), the majority of which are predicted to be protein-truncating. In addition to splice site variants, a number of synonymous and ... ...

    Abstract The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), the majority of which are predicted to be protein-truncating. In addition to splice site variants, a number of synonymous and missense DLG4 variants are predicted to exert their effect through altered RNA splicing, although the pathogenicity of these variants is uncertain without functional RNA studies. Here, we describe a young boy with a deep intronic DLG4 variant (c.2105+235C>T) identified using whole genome sequencing. By using reverse-transcription PCR on RNA derived from peripheral blood, we demonstrate that DLG4 mRNA expression is detectable in blood and the deep intronic variant gives rise to two alternative DLG4 transcripts, one of which includes a pseudoexon. Both alternative transcripts are out-of-frame and predicted to result in protein-truncation, thereby establishing the genetic diagnosis for the proband. This adds to the evidence concerning the pathogenic potential of deep intronic variants and underlines the importance of functional studies, even in cases where reported tissue-specific gene expression might suggest otherwise.
    MeSH term(s) Male ; Humans ; Introns/genetics ; Mutation ; RNA Splicing/genetics ; Mutation, Missense ; RNA ; Disks Large Homolog 4 Protein/genetics
    Chemical Substances RNA (63231-63-0) ; DLG4 protein, human ; Disks Large Homolog 4 Protein
    Language English
    Publishing date 2023-08-01
    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.14411
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 413: Show issues Location:
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  5. Article: Current Advances and Future Prospects in Cancer Immunotherapeutics.

    Dede, Zeynep / Tumer, Kader / Kan, Tugce / Yucel, Burcu

    Medeniyet medical journal

    2023  Volume 38, Issue 1, Page(s) 88–94

    Abstract: Cancer is a disease that results from the uncontrolled proliferation and growth of cells. Due to early detection methods, there is a decrease in death rates in many types of cancer. However, among the causes of death worldwide, cancer still ranks second ... ...

    Abstract Cancer is a disease that results from the uncontrolled proliferation and growth of cells. Due to early detection methods, there is a decrease in death rates in many types of cancer. However, among the causes of death worldwide, cancer still ranks second after cardiovascular diseases. Therefore, cancer research has focused mainly on developing more effective treatments to reduce deaths from cancer. With a better understanding of the molecular mechanisms in cancer cells, advances in cancer treatment have evolved and changed. The main priority of research is to develop treatment modalities with the highest response rate and less side effects. In this context, immunotherapies have started a new era in cancer treatments. In this review, an overview of the future of next-generation treatment methods is presented by including the most preferred immunotherapy methods.
    Language English
    Publishing date 2023-03-28
    Publishing country Turkey
    Document type Journal Article
    ZDB-ID 3035195-9
    ISSN 2149-4606 ; 2149-2042
    ISSN (online) 2149-4606
    ISSN 2149-2042
    DOI 10.4274/MMJ.galenos.2023.29599
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  6. Article ; Online: Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners

    Amanda M. Levy / Paulino Gomez-Puertas / Zeynep Tümer

    International Journal of Molecular Sciences, Vol 23, Iss 4390, p

    2022  Volume 4390

    Abstract: The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role as it organizes key PSD components essential for synaptic ... ...

    Abstract The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role as it organizes key PSD components essential for synaptic signaling, development, and survival. Recently, variants in DLG4 encoding PSD-95 were found to cause a neurodevelopmental disorder with a variety of clinical features including intellectual disability, developmental delay, and epilepsy. Genetic variants in several of the interaction partners of PSD-95 are associated with similar phenotypes, suggesting that deficient PSD-95 may affect the interaction partners, explaining the overlapping symptoms. Here, we review the transmembrane interaction partners of PSD-95 and their association with neurodevelopmental disorders. We assess how the structural changes induced by DLG4 missense variants may disrupt or alter such protein–protein interactions, and we argue that the pathological effect of DLG4 variants is, at least partly, exerted indirectly through interaction partners of PSD-95. This review presents a direction for functional studies to elucidate the pathogenic mechanism of deficient PSD-95, providing clues for therapeutic strategies.
    Keywords postsynaptic density ; DLG4 ; epilepsy ; synaptopathy ; clinical genetics ; excitatory synapses ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Subject code 572
    Language English
    Publishing date 2022-04-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Solving the unsolved genetic epilepsies: Current and future perspectives.

    Johannesen, Katrine M / Tümer, Zeynep / Weckhuysen, Sarah / Barakat, Tahsin Stefan / Bayat, Allan

    Epilepsia

    2023  Volume 64, Issue 12, Page(s) 3143–3154

    Abstract: Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic workup; however, many remain genetically unsolved. There are various factors that account for negative results in exome/genome sequencing for patients with epilepsy: ( ... ...

    Abstract Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic workup; however, many remain genetically unsolved. There are various factors that account for negative results in exome/genome sequencing for patients with epilepsy: (1) the underlying cause is not genetic; (2) there is a complex polygenic explanation; (3) the illness is monogenic but the causative gene remains to be linked to a human disorder; (4) family segregation with reduced penetrance; (5) somatic mosaicism or the complexity of, for example, a structural rearrangement; or (6) limited knowledge or diagnostic tools that hinder the proper classification of a variant, resulting in its designation as a variant of unknown significance. The objective of this review is to outline some of the diagnostic options that lie beyond the exome/genome, and that might become clinically relevant within the foreseeable future. These options include: (1) re-analysis of older exome/genome data as knowledge increases or symptoms change; (2) looking for somatic mosaicism or long-read sequencing to detect low-complexity repeat variants or specific structural variants missed by traditional exome/genome sequencing; (3) exploration of the non-coding genome including disruption of topologically associated domains, long range non-coding RNA, or other regulatory elements; and finally (4) transcriptomics, DNA methylation signatures, and metabolomics as complementary diagnostic methods that may be used in the assessment of variants of unknown significance. Some of these tools are currently not integrated into standard diagnostic workup. However, it is reasonable to expect that they will become increasingly available and improve current diagnostic capabilities, thereby enabling precision diagnosis in patients who are currently undiagnosed.
    MeSH term(s) Humans ; Genetic Variation/genetics ; Epilepsy/diagnosis ; Epilepsy/genetics ; Exome ; Exome Sequencing ; Chromosome Mapping
    Language English
    Publishing date 2023-10-17
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17780
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 517: Show issues Location:
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    Zs.MO 475: Show issues

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  8. Article ; Online: Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?

    Levy, Amanda M / Paschou, Peristera / Tümer, Zeynep

    Genes

    2021  Volume 12, Issue 9

    Abstract: Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental and -psychiatric tic-disorder of complex etiology which is often comorbid with obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD). Twin ... ...

    Abstract Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental and -psychiatric tic-disorder of complex etiology which is often comorbid with obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD). Twin and family studies of GTS individuals have shown a high level of heritability suggesting, that genetic risk factors play an important role in disease etiology. However, the identification of major GTS susceptibility genes has been challenging, presumably due to the complex interplay between several genetic factors and environmental influences, low penetrance of each individual factor, genetic diversity in populations, and the presence of comorbid disorders. To understand the genetic components of GTS etiopathology, we conducted an extensive review of the literature, compiling the candidate susceptibility genes identified through various genetic approaches. Even though several strong candidate genes have hitherto been identified, none of these have turned out to be major susceptibility genes yet.
    MeSH term(s) Tourette Syndrome
    Language English
    Publishing date 2021-08-26
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12091321
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  9. Article ; Online: High Resolution Analysis of

    Rasmussen, Astrid / Hildonen, Mathis / Vissing, John / Duno, Morten / Tümer, Zeynep / Birkedal, Ulf

    Genes

    2022  Volume 13, Issue 6

    Abstract: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder caused by the expansion of a CTG repeat in the 3'-UTR ... ...

    Abstract Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder caused by the expansion of a CTG repeat in the 3'-UTR of
    MeSH term(s) DNA Methylation ; Humans ; Myotonic Dystrophy/diagnosis ; Myotonic Dystrophy/genetics ; Myotonin-Protein Kinase/genetics ; Pilot Projects ; RNA Splicing ; Trinucleotide Repeat Expansion
    Chemical Substances DMPK protein, human ; Myotonin-Protein Kinase (EC 2.7.11.1)
    Language English
    Publishing date 2022-05-28
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13060970
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  10. Article ; Online: An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

    Tümer, Zeynep

    Human mutation

    2012  Volume 34, Issue 3, Page(s) 417–429

    Abstract: Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive ... ...

    Abstract Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs because of mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy-dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms. This study reviews 274 published and 18 novel disease causing mutations identified in 370 unrelated MD patients, nonpathogenic variants of ATP7A, functional studies of the ATP7A mutations, and animal models of MD.
    MeSH term(s) Adenosine Triphosphatases/genetics ; Alleles ; Animals ; Cation Transport Proteins/genetics ; Child, Preschool ; Chromosome Aberrations ; Copper/metabolism ; Copper-transporting ATPases ; Cutis Laxa/diagnosis ; Cutis Laxa/genetics ; Disease Models, Animal ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Female ; Gene Deletion ; Genetic Association Studies ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome/diagnosis ; Menkes Kinky Hair Syndrome/genetics ; Mice ; Phenotype
    Chemical Substances Cation Transport Proteins ; Copper (789U1901C5) ; Adenosine Triphosphatases (EC 3.6.1.-) ; Copper-transporting ATPases (EC 3.6.3.54) ; ATP7A protein, human (EC 7.2.2.8)
    Language English
    Publishing date 2012-12-29
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.22266
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3586: Show issues Location:
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