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  1. Article ; Online: NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing.

    Bækgaard, Caroline Hey / Lester, Emilie Boye / Møller-Larsen, Steffen / Lauridsen, Mathilde Faurholdt / Larsen, Martin Jakob

    Annals of human genetics

    2024  

    Abstract: Introduction: Long-read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5-methylcytosine, nanopore ...

    Abstract Introduction: Long-read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5-methylcytosine, nanopore is a promising technology to improve diagnostics of imprinting disorders.
    Methods: Currently, no tools to analyze DNA methylation patterns at known clinically relevant imprinted regions are available. Here we present NanoImprint, which generates an easily interpretable report, based on long-read nanopore sequencing, to use for identifying clinical relevant abnormalities in methylation levels at 14 imprinted regions and diagnosis of common imprinting disorders.
    Results and conclusion: NanoImprint outputs a summarizing table and visualization plots displays methylation frequency (%) and chromosomal positions for all regions, with phased data color-coded for the two alleles. We demonstrate the utility of NanoImprint using three imprinting disorder samples from patients with Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS) and Prader-Willi syndrome (PWS). NanoImprint script is available from https://github.com/carolinehey/NanoImprint.
    Language English
    Publishing date 2024-05-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 333-5
    ISSN 1469-1809 ; 0003-4800
    ISSN (online) 1469-1809
    ISSN 0003-4800
    DOI 10.1111/ahg.12556
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Prevalence and quality of care among patients using medication targeting obstructive lung disease: a cross-sectional study in the five regions of Greenland.

    Lauridsen, Mathilde Vesterager / Backe, Marie Balslev / Bonefeld-Jørgensen, Eva Cecilie / Skovgaard, Nils / Pedersen, Michael Lynge

    International journal of circumpolar health

    2021  Volume 80, Issue 1, Page(s) 1948244

    Abstract: The aim of this study was to estimate the age- and gender-specific prevalence and quality of care among patients using medication targeting obstructive lung disease in the five regions of Greenland. The study was designed as a cross-sectional study. Data ...

    Abstract The aim of this study was to estimate the age- and gender-specific prevalence and quality of care among patients using medication targeting obstructive lung disease in the five regions of Greenland. The study was designed as a cross-sectional study. Data on patients using medication targeting obstructive lung disease was obtained from the electronically medical record used in Greenland. The prevalence was calculated using the population of Greenland as background population. The quality of care was determined using indicators proposed by international literature and the Steno Diabetes Center Greenland guidelines. The total prevalence of patients using medication targeting obstructive lung disease was 7.5%. The prevalence was significantly higher among women compared to men and differed significantly between the five regions. Smoking status, blood pressure and spirometry were registered within one/two years for 29.8%/43.2%, 29.2%/41.1% and 15.9%/26.0% of the patients, respectively. Regional differences were observed for all indicators.The use of medication targeting obstructive lung disease is common in Greenland. Yet, the quality of care was low and interventions improving the quality of care is recommended.
    MeSH term(s) Cross-Sectional Studies ; Diabetes Mellitus ; Female ; Greenland/epidemiology ; Humans ; Inuits ; Lung Diseases, Obstructive/drug therapy ; Lung Diseases, Obstructive/epidemiology ; Male ; Prevalence
    Language English
    Publishing date 2021-07-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1386707-6
    ISSN 2242-3982 ; 1239-9736
    ISSN (online) 2242-3982
    ISSN 1239-9736
    DOI 10.1080/22423982.2021.1948244
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Sjældent syndrom som differentialdiagnose ved markant fregnedannelse.

    Lings, Kristina / Lauridsen, Mathilde Faurholdt / Hansen, Lars Kjærsgaard

    Ugeskrift for laeger

    2015  Volume 178, Issue 47

    Title translation Rare syndrome as a differential diagnosis in significant freckle formation.
    MeSH term(s) Carney Complex/complications ; Carney Complex/diagnosis ; Child ; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics ; Diagnosis, Differential ; Female ; Humans ; Melanosis/etiology ; Melanosis/pathology ; Mutation ; Rare Diseases/complications ; Rare Diseases/diagnosis
    Chemical Substances Cyclic AMP-Dependent Protein Kinase RIalpha Subunit ; PRKAR1A protein, human
    Language Danish
    Publishing date 2015-03-30
    Publishing country Denmark
    Document type Case Reports
    ZDB-ID 124102-3
    ISSN 1603-6824 ; 0041-5782
    ISSN (online) 1603-6824
    ISSN 0041-5782
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia.

    Tørring, Pernille Mathiesen / Lauridsen, Mathilde Faurholdt / I Dali, Christine / Andersen, Poul Erik / Ousager, Lillian Bomme / Brusgaard, Klaus / Kjeldsen, Anette

    Clinical case reports

    2017  Volume 5, Issue 6, Page(s) 805–808

    Abstract: In case of a cerebral abscess without known cause, Pulmonary arteriovenous malformations (PAVM) screening should be performed. If PAVM(s) is identified, Hereditary hemorrhagic telangiectasia (HHT) is very likely and should always be considered. This case ...

    Abstract In case of a cerebral abscess without known cause, Pulmonary arteriovenous malformations (PAVM) screening should be performed. If PAVM(s) is identified, Hereditary hemorrhagic telangiectasia (HHT) is very likely and should always be considered. This case shows the benefit of familial screening for HHT and PAVM.
    Language English
    Publishing date 2017-04-13
    Publishing country England
    Document type Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.785
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

    Rossi, Alessandra / Blok, Lot Snijders / Neuser, Sonja / Klöckner, Chiara / Platzer, Konrad / Faivre, Laurence Olivier / Weigand, Heike / Dentici, Maria L / Tartaglia, Marco / Niceta, Marcello / Alfieri, Paolo / Srivastava, Siddharth / Coulter, David / Smith, Lacey / Vinorum, Kristin / Cappuccio, Gerarda / Brunetti-Pierri, Nicola / Torun, Deniz / Arslan, Mutluay /
    Lauridsen, Mathilde F / Murch, Oliver / Irving, Rachel / Lynch, Sally A / Mehta, Sarju G / Carmichael, Jenny / Zonneveld-Huijssoon, Evelien / de Vries, Bert / Kleefstra, Tjitske / Johannesen, Katrine M / Westphall, Ian T / Hughes, Susan S / Smithson, Sarah / Evans, Julie / Dudding-Byth, Tracy / Simon, Marleen / van Binsbergen, Ellen / Herkert, Johanna C / Beunders, Gea / Oppermann, Henry / Bakal, Mert / Møller, Rikke S / Rubboli, Guido / Bayat, Allan

    Clinical genetics

    2023  Volume 104, Issue 2, Page(s) 186–197

    Abstract: POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited ... ...

    Abstract POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort. Functional effects of missense variants were investigated with 3D protein modeling. We included 28 individuals (5 previously published) from 26 families carrying POU3F3 variants; 23 de novo and one inherited from an affected parent. Median age at study inclusion was 7.4 years. All had developmental delay mainly affecting speech, behavioral difficulties, psychiatric comorbidities and dysmorphisms. Additional features included gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances and joint hypermobility. Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-binding region of POU3F3. Our study refined the phenotypic and genetic landscape of POU3F3-related disorders, it reports the functional properties of the identified pathogenic variants, and delineates some genotype-phenotype correlations.
    MeSH term(s) Humans ; Child ; Intellectual Disability/genetics ; Autistic Disorder/genetics ; Phenotype ; Epilepsy/genetics ; Mutation, Missense/genetics ; Developmental Disabilities/genetics ; POU Domain Factors/genetics
    Chemical Substances POU3F3 protein, human ; POU Domain Factors
    Language English
    Publishing date 2023-05-10
    Publishing country Denmark
    Document type Journal Article ; Research Support, N.I.H., Extramural ; 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.14353
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Gillentine, Madelyn A / Wang, Tianyun / Hoekzema, Kendra / Rosenfeld, Jill / Liu, Pengfei / Guo, Hui / Kim, Chang N / De Vries, Bert B A / Vissers, Lisenka E L M / Nordenskjold, Magnus / Kvarnung, Malin / Lindstrand, Anna / Nordgren, Ann / Gecz, Jozef / Iascone, Maria / Cereda, Anna / Scatigno, Agnese / Maitz, Silvia / Zanni, Ginevra /
    Bertini, Enrico / Zweier, Christiane / Schuhmann, Sarah / Wiesener, Antje / Pepper, Micah / Panjwani, Heena / Torti, Erin / Abid, Farida / Anselm, Irina / Srivastava, Siddharth / Atwal, Paldeep / Bacino, Carlos A / Bhat, Gifty / Cobian, Katherine / Bird, Lynne M / Friedman, Jennifer / Wright, Meredith S / Callewaert, Bert / Petit, Florence / Mathieu, Sophie / Afenjar, Alexandra / Christensen, Celenie K / White, Kerry M / Elpeleg, Orly / Berger, Itai / Espineli, Edward J / Fagerberg, Christina / Brasch-Andersen, Charlotte / Hansen, Lars Kjærsgaard / Feyma, Timothy / Hughes, Susan / Thiffault, Isabelle / Sullivan, Bonnie / Yan, Shuang / Keller, Kory / Keren, Boris / Mignot, Cyril / Kooy, Frank / Meuwissen, Marije / Basinger, Alice / Kukolich, Mary / Philips, Meredith / Ortega, Lucia / Drummond-Borg, Margaret / Lauridsen, Mathilde / Sorensen, Kristina / Lehman, Anna / Lopez-Rangel, Elena / Levy, Paul / Lessel, Davor / Lotze, Timothy / Madan-Khetarpal, Suneeta / Sebastian, Jessica / Vento, Jodie / Vats, Divya / Benman, L Manace / Mckee, Shane / Mirzaa, Ghayda M / Muss, Candace / Pappas, John / Peeters, Hilde / Romano, Corrado / Elia, Maurizio / Galesi, Ornella / Simon, Marleen E H / van Gassen, Koen L I / Simpson, Kara / Stratton, Robert / Syed, Sabeen / Thevenon, Julien / Palafoll, Irene Valenzuela / Vitobello, Antonio / Bournez, Marie / Faivre, Laurence / Xia, Kun / Earl, Rachel K / Nowakowski, Tomasz / Bernier, Raphael A / Eichler, Evan E

    Genome medicine

    2021  Volume 13, Issue 1, Page(s) 63

    Abstract: Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with ... ...

    Abstract Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations.
    Methods: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk.
    Results: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs.
    Conclusions: Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.
    MeSH term(s) Brain/metabolism ; DNA Copy Number Variations/genetics ; Gene Expression Regulation ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Variation ; Heterogeneous-Nuclear Ribonucleoproteins/genetics ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Humans ; Inheritance Patterns/genetics ; Mutation/genetics ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/genetics ; Phenotype ; RNA Processing, Post-Transcriptional/genetics ; Single-Cell Analysis
    Chemical Substances Heterogeneous-Nuclear Ribonucleoproteins
    Language English
    Publishing date 2021-04-19
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-021-00870-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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