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  1. Artikel: Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in

    Cayir, Atilla / Turkyilmaz, Ayberk / Rabenstein, Hannah / Guven, Fadime / Karagoz, Yuksel Sumeyra / Vuralli, Dogus / Wabitsch, Martin / Demirbilek, Huseyin

    Molecular syndromology

    2023  Band 15, Heft 2, Seite(n) 104–113

    Abstract: Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The ": Methods: Sanger sequencing and whole-exome ... ...

    Abstract Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The "
    Methods: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family.
    Results: The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m
    Discussion/conclusion: Our study expands the phenotypical manifestations and variation database of
    Sprache Englisch
    Erscheinungsdatum 2023-12-19
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000535253
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Buch ; Online ; Dissertation / Habilitation: Antigenabhängige und -unabhängige Proliferation von CD4- und CD8-T-Zellen

    Rabenstein, Hannah

    progressive oder programmierte Differenzierung?

    2012  

    Verfasserangabe von Hannah Rabenstein
    Sprache Deutsch
    Umfang Online-Ressource, graph. Darst.
    Dokumenttyp Buch ; Online ; Dissertation / Habilitation
    Dissertation / Habilitation Univ., Diss.--München, 2013
    Datenquelle Ehemaliges Sondersammelgebiet Küsten- und Hochseefischerei

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  3. Artikel: A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.

    Koerber-Rosso, Ingrid / Brandt, Stephanie / von Schnurbein, Julia / Fischer-Posovszky, Pamela / Hoegel, Josef / Rabenstein, Hannah / Siebert, Reiner / Wabitsch, Martin

    Molecular and cellular pediatrics

    2021  Band 8, Heft 1, Seite(n) 10

    Abstract: Leptin (LEP) and leptin receptor (LEPR) play a major role in energy homeostasis, metabolism, and reproductive function. While effects of biallelic likely pathogenic variants (-/-) on the phenotype are well characterized, effects of mono-allelic likely ... ...

    Abstract Leptin (LEP) and leptin receptor (LEPR) play a major role in energy homeostasis, metabolism, and reproductive function. While effects of biallelic likely pathogenic variants (-/-) on the phenotype are well characterized, effects of mono-allelic likely pathogenic variants (wt/-) in the LEP and LEPR gene on the phenotype compared to wild-type homozygosity (wt/wt) have not been systematically investigated. We identified in our systematic review 44 animal studies (15 on Lep, 29 on Lepr) and 39 studies in humans reporting on 130 mono-allelic likely pathogenic variant carriers with 20 distinct LEP variants and 108 heterozygous mono-allelic likely pathogenic variant carriers with 35 distinct LEPR variants. We found indications for a higher weight status in carriers of mono-allelic likely pathogenic variant in the leptin and in the leptin receptor gene compared to wt/wt, in both animal and human studies. In addition, animal studies showed higher body fat percentage in Lep and Lepr wt/- vs wt/wt. Animal studies provided indications for lower leptin levels in Lep wt/- vs. wt/wt and indications for higher leptin levels in Lepr wt/- vs wt/wt. Data on leptin levels in human studies was limited. Evidence for an impaired metabolism in mono-allelic likely pathogenic variants of the leptin and in leptin receptor gene was not conclusive (animal and human studies). Mono-allelic likely pathogenic variants in the leptin and in leptin receptor gene have phenotypic effects disposing to increased body weight and fat accumulation.
    Sprache Englisch
    Erscheinungsdatum 2021-08-26
    Erscheinungsland Germany
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2785551-X
    ISSN 2194-7791
    ISSN 2194-7791
    DOI 10.1186/s40348-021-00119-7
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.

    Giannopoulou, Eleni Z / Zorn, Stefanie / Schirmer, Melanie / Herrmann, Gloria / Heger, Sabine / Reinehr, Thomas / Denzer, Christian / Rabenstein, Hannah / Hillmer, Morten / Sowada, Nadine / Siebert, Reiner / von Schnurbein, Julia / Wabitsch, Martin

    Hormone research in paediatrics

    2021  Band 95, Heft 2, Seite(n) 137–148

    Abstract: Introduction: Genetic obesity is rare and quite challenging for pediatricians in terms of early identification. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and is found to play an ... ...

    Abstract Introduction: Genetic obesity is rare and quite challenging for pediatricians in terms of early identification. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and is found to play an important role in leptin and insulin signaling and therefore in the pathogenesis of obesity and diabetes. Microdeletions in chromosome 16p11.2, encompassing the SH2B1 gene, are known to be associated with obesity, insulin resistance, hyperphagia, and developmental delay. The aim of our study is to report on a case series of young individuals with 16p11.2 microdeletions, including the SH2B1 gene, and provide detailed information on body mass index (BMI) development and obesity-associated comorbidities. In this way, we want to raise awareness of this syndromic form of obesity as a differential diagnosis of genetic obesity.
    Methods: We describe the phenotype of 7 children (3 male; age range: 2.8-18.0 years) with 16p11.2 microdeletions, encompassing the SH2B1 gene, and present their BMI trajectories from birth onward. Screening for obesity-associated comorbidities was performed at the time of genetic diagnosis.
    Results: All children presented with severe, early-onset obesity already at the age of 5 years combined with variable developmental delay. Five patients presented with elevated fasting insulin levels, 1 patient developed diabetes mellitus type 2, 4 patients had dyslipidemia, and 4 developed nonalcoholic fatty-liver disease.
    Discussion/conclusion: Chromosomal microdeletions in 16p11.2, including the SH2B1 gene, in children are associated with severe, early-onset obesity and comorbidities associated with insulin resistance. Early genetic testing in suspicious patients and early screening for comorbidities are recommended.
    Mesh-Begriff(e) Adaptor Proteins, Signal Transducing/genetics ; Adolescent ; Body Mass Index ; Child ; Child, Preschool ; Female ; Gene Deletion ; Humans ; Insulin/metabolism ; Insulin Resistance/genetics ; Leptin/metabolism ; Male ; Pediatric Obesity/diagnosis ; Pediatric Obesity/genetics
    Chemische Substanzen Adaptor Proteins, Signal Transducing ; Insulin ; Leptin ; SH2B1 protein, human
    Sprache Englisch
    Erscheinungsdatum 2021-10-22
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000520402
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Buch ; Online ; Dissertation / Habilitation: Antigenabhängige und -unabhängige Proliferation von CD4- und CD8-T-Zellen

    Rabenstein, Hannah [Verfasser] / Brocker, Thomas [Akademischer Betreuer]

    progressive oder programmierte Differenzierung?

    2013  

    Verfasserangabe Hannah Rabenstein. Betreuer: Thomas Brocker
    Schlagwörter Biowissenschaften, Biologie ; Life Science, Biology
    Thema/Rubrik (Code) sg570
    Sprache Deutsch
    Verlag Universitätsbibliothek der Ludwig-Maximilians-Universität
    Erscheinungsort München
    Dokumenttyp Buch ; Online ; Dissertation / Habilitation
    Datenquelle Digitale Dissertationen im Internet

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  6. Artikel ; Online: Role of antigen persistence and dose for CD4+ T-cell exhaustion and recovery.

    Han, Shaobo / Asoyan, Ayuna / Rabenstein, Hannah / Nakano, Naoko / Obst, Reinhard

    Proceedings of the National Academy of Sciences of the United States of America

    2010  Band 107, Heft 47, Seite(n) 20453–20458

    Abstract: It is currently not understood how some chronic infections exhaust antigen-specific T cells over time and which pathogen components contribute to exhaustion. Here, we dissected the behavior of primed CD4(+) T cells exposed to persistent antigen using an ... ...

    Abstract It is currently not understood how some chronic infections exhaust antigen-specific T cells over time and which pathogen components contribute to exhaustion. Here, we dissected the behavior of primed CD4(+) T cells exposed to persistent antigen using an inducible transgenic mouse system that allowed us to control antigen presentation as the only experimental variable, independent of the persistent inflammation and disease progression that complicate infectious models. Moreover, this system restricted antigen presentation to dendritic cells (DCs) and avoided confounding B, CD8(+) T, or innate cell responses. When antigen presentation was extended beyond the expansion phase, primed CD4(+) T cells survived, but exhibited reduced memory functionality in terms of their proliferative capacity and cytokine expression potential. The effect was antigen dose and time dependent, not associated with increased PD-1 expression or reduced calcium influx, but impaired Jun phosphorylation in response to TCR engagement. Upon antigen removal, the cells regained the ability to proliferate, but remained unable to produce high levels of IL-2 and TNF-α. These data show that persistent antigen by itself rapidly induces a dysfunctional state in CD4(+) T cells that is only partially reversible upon antigen removal. These findings have implications for vaccine optimization and for the possible reinvigoration of CD4(+) T cells during chronic infection.
    Mesh-Begriff(e) Animals ; Antigen Presentation/immunology ; CD4-Positive T-Lymphocytes/immunology ; Calcium/metabolism ; Clonal Anergy/immunology ; DNA Primers/genetics ; Dendritic Cells/immunology ; Flow Cytometry ; Immunologic Memory/immunology ; Mice ; Mice, Transgenic ; Oncogene Protein p65(gag-jun)/metabolism ; Phosphorylation ; Time Factors
    Chemische Substanzen DNA Primers ; Oncogene Protein p65(gag-jun) ; Calcium (SY7Q814VUP)
    Sprache Englisch
    Erscheinungsdatum 2010-11-08
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.1008437107
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Role of antigen persistence and dose for CD4⁺ T-cell exhaustion and recovery

    Han, Shaobo / Asoyan, Ayuna / Rabenstein, Hannah / Nakano, Naoko / Obst, Reinhard

    Proceedings of the National Academy of Sciences of the United States of America. 2010 Nov. 23, v. 107, no. 47

    2010  

    Abstract: It is currently not understood how some chronic infections exhaust antigen-specific T cells over time and which pathogen components contribute to exhaustion. Here, we dissected the behavior of primed CD4⁺ T cells exposed to persistent antigen using an ... ...

    Abstract It is currently not understood how some chronic infections exhaust antigen-specific T cells over time and which pathogen components contribute to exhaustion. Here, we dissected the behavior of primed CD4⁺ T cells exposed to persistent antigen using an inducible transgenic mouse system that allowed us to control antigen presentation as the only experimental variable, independent of the persistent inflammation and disease progression that complicate infectious models. Moreover, this system restricted antigen presentation to dendritic cells (DCs) and avoided confounding B, CD8⁺ T, or innate cell responses. When antigen presentation was extended beyond the expansion phase, primed CD4⁺ T cells survived, but exhibited reduced memory functionality in terms of their proliferative capacity and cytokine expression potential. The effect was antigen dose and time dependent, not associated with increased PD-1 expression or reduced calcium influx, but impaired Jun phosphorylation in response to TCR engagement. Upon antigen removal, the cells regained the ability to proliferate, but remained unable to produce high levels of IL-2 and TNF-α. These data show that persistent antigen by itself rapidly induces a dysfunctional state in CD4⁺ T cells that is only partially reversible upon antigen removal. These findings have implications for vaccine optimization and for the possible reinvigoration of CD4⁺ T cells during chronic infection.
    Schlagwörter CD4-positive T-lymphocytes ; antigen presentation ; antigens ; calcium ; dendritic cells ; disease course ; inflammation ; interleukin-2 ; mice ; models ; pathogens ; phosphorylation ; transgenic animals ; tumor necrosis factor-alpha ; vaccines
    Sprache Englisch
    Erscheinungsverlauf 2010-1123
    Umfang p. 20453-20458.
    Erscheinungsort National Academy of Sciences
    Dokumenttyp Artikel
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.1008437107
    Datenquelle NAL Katalog (AGRICOLA)

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  8. Artikel ; Online: Differential kinetics of antigen dependency of CD4+ and CD8+ T cells.

    Rabenstein, Hannah / Behrendt, Anne C / Ellwart, Joachim W / Naumann, Ronald / Horsch, Marion / Beckers, Johannes / Obst, Reinhard

    Journal of immunology (Baltimore, Md. : 1950)

    2014  Band 192, Heft 8, Seite(n) 3507–3517

    Abstract: Ag recognition via the TCR is necessary for the expansion of specific T cells that then contribute to adaptive immunity as effector and memory cells. Because CD4+ and CD8+ T cells differ in terms of their priming APCs and MHC ligands we compared their ... ...

    Abstract Ag recognition via the TCR is necessary for the expansion of specific T cells that then contribute to adaptive immunity as effector and memory cells. Because CD4+ and CD8+ T cells differ in terms of their priming APCs and MHC ligands we compared their requirements of Ag persistence during their expansion phase side by side. Proliferation and effector differentiation of TCR transgenic and polyclonal mouse T cells were thus analyzed after transient and continuous TCR signals. Following equally strong stimulation, CD4+ T cell proliferation depended on prolonged Ag presence, whereas CD8+ T cells were able to divide and differentiate into effector cells despite discontinued Ag presentation. CD4+ T cell proliferation was neither affected by Th lineage or memory differentiation nor blocked by coinhibitory signals or missing inflammatory stimuli. Continued CD8+ T cell proliferation was truly independent of self-peptide/MHC-derived signals. The subset divergence was also illustrated by surprisingly broad transcriptional differences supporting a stronger propensity of CD8+ T cells to programmed expansion. These T cell data indicate an intrinsic difference between CD4+ and CD8+ T cells regarding the processing of TCR signals for proliferation. We also found that the presentation of a MHC class II-restricted peptide is more efficiently prolonged by dendritic cell activation in vivo than a class I bound one. In summary, our data demonstrate that CD4+ T cells require continuous stimulation for clonal expansion, whereas CD8+ T cells can divide following a much shorter TCR signal.
    Mesh-Begriff(e) Animals ; Antigen Presentation/immunology ; Antigen-Presenting Cells/immunology ; Antigen-Presenting Cells/metabolism ; Antigens/immunology ; Antigens/metabolism ; CD4-Positive T-Lymphocytes/cytology ; CD4-Positive T-Lymphocytes/immunology ; CD4-Positive T-Lymphocytes/metabolism ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/metabolism ; Cell Cycle/drug effects ; Cell Differentiation ; Cluster Analysis ; Dendritic Cells/immunology ; Epitopes, T-Lymphocyte/genetics ; Epitopes, T-Lymphocyte/immunology ; Gene Expression ; Gene Expression Profiling ; Gene Order ; Genetic Vectors/genetics ; H-2 Antigens/chemistry ; H-2 Antigens/immunology ; Immunologic Memory ; Lymphocyte Activation/immunology ; Mice ; Mice, Transgenic ; Receptors, Antigen, T-Cell/metabolism ; T-Lymphocytes, Helper-Inducer/cytology ; T-Lymphocytes, Helper-Inducer/immunology ; T-Lymphocytes, Helper-Inducer/metabolism
    Chemische Substanzen Antigens ; Epitopes, T-Lymphocyte ; H-2 Antigens ; Receptors, Antigen, T-Cell
    Sprache Englisch
    Erscheinungsdatum 2014-04-15
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3056-9
    ISSN 1550-6606 ; 0022-1767 ; 1048-3233 ; 1047-7381
    ISSN (online) 1550-6606
    ISSN 0022-1767 ; 1048-3233 ; 1047-7381
    DOI 10.4049/jimmunol.1302725
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel ; Online: DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

    Rivera, Barbara / Nadaf, Javad / Fahiminiya, Somayyeh / Apellaniz-Ruiz, Maria / Saskin, Avi / Chong, Anne-Sophie / Sharma, Sahil / Wagener, Rabea / Revil, Timothée / Condello, Vincenzo / Harra, Zineb / Hamel, Nancy / Sabbaghian, Nelly / Muchantef, Karl / Thomas, Christian / de Kock, Leanne / Hébert-Blouin, Marie-Noëlle / Bassenden, Angelia V / Rabenstein, Hannah /
    Mete, Ozgur / Paschke, Ralf / Pusztaszeri, Marc P / Paulus, Werner / Berghuis, Albert / Ragoussis, Jiannis / Nikiforov, Yuri E / Siebert, Reiner / Albrecht, Steffen / Turcotte, Robert / Hasselblatt, Martin / Fabian, Marc R / Foulkes, William D

    The Journal of clinical investigation

    2019  Band 130, Heft 3, Seite(n) 1479–1490

    Abstract: BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole- ... ...

    Abstract BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the disease. Genome-wide analyses were performed on 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumors, including MNG, schwannomas, papillary thyroid cancers (PTCs), and Wilms tumors. miRNA profiles of 4 tissue types were compared, and sequencing of miRNA, pre-miRNA, and mRNA was performed in a subset of 9 schwannomas, 4 of which harbor DGCR8-E518K.RESULTSWe identified c.1552G>A;p.E518K in DGCR8, a microprocessor component located in 22q, in the kindred. The variant identified is a somatic hotspot in Wilms tumors and has been identified in 2 PTCs. Copy number loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in all 13 samples harboring c.1552G>A;p.E518K. miRNA profiling of PTCs, MNG, schwannomas, and Wilms tumors revealed a common profile among E518K hemizygous tumors. In vitro cleavage demonstrated improper processing of pre-miRNA by DGCR8-E518K. MicroRNA and RNA profiling show that this variant disrupts precursor microRNA production, impacting populations of canonical microRNAs and mirtrons.CONCLUSIONWe identified DGCR8 as the cause of an unreported autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter with schwannomatosis.FUNDINGCanadian Institutes of Health Research, Compute Canada, Alex's Lemonade Stand Foundation, the Mia Neri Foundation for Childhood Cancer, Cassa di Sovvenzioni e Risparmio fra il Personale della Banca d'Italia, and the KinderKrebsInitiative Buchholz/Holm-Seppensen.
    Mesh-Begriff(e) Amino Acid Substitution ; Child ; Chromosomes, Human, Pair 22/genetics ; Female ; Gene Dosage ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Goiter, Nodular/genetics ; Goiter, Nodular/pathology ; HEK293 Cells ; Humans ; Male ; Mutation, Missense ; Neoplasm Proteins/genetics ; Neurilemmoma/genetics ; Neurilemmoma/pathology ; Neurofibromatoses/genetics ; Neurofibromatoses/pathology ; RNA-Binding Proteins/genetics ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Whole Exome Sequencing
    Chemische Substanzen DGCR8 protein, human ; Neoplasm Proteins ; RNA-Binding Proteins
    Sprache Englisch
    Erscheinungsdatum 2019-12-05
    Erscheinungsland United States
    Dokumenttyp Clinical Trial ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 3067-3
    ISSN 1558-8238 ; 0021-9738
    ISSN (online) 1558-8238
    ISSN 0021-9738
    DOI 10.1172/JCI130206
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel: Role of antigen persistence and dose for CD4⁺ T-cell exhaustion and recovery

    Han, Shaobo / Asoyan, Ayuna / Rabenstein, Hannah / Nakano, Naoko / Obst, Reinhard
    Sprache Englisch
    Dokumenttyp Artikel
    Datenquelle AGRIS - International Information System for the Agricultural Sciences and Technology

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