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  1. Article ; Online: Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.

    Mayeur, Sylvain / Lhermitte, Benoit / Gantzer, Justine / Molitor, Anne / Stemmelen, Tristan / Meyer, Sébastien / Kolmer, Aline / Kurtz, Jean-Emmanuel / Bahram, Seiamak / Carapito, Raphael

    Cold Spring Harbor molecular case studies

    2023  Volume 9, Issue 2

    Abstract: Following chemotherapy, a mediastinal germ cell tumor can lead to a mature teratoma that is composed of tissues derived from all three germ layers. Although teratoma is usually curable, in rare cases it can give rise to various somatic tumors and ... ...

    Abstract Following chemotherapy, a mediastinal germ cell tumor can lead to a mature teratoma that is composed of tissues derived from all three germ layers. Although teratoma is usually curable, in rare cases it can give rise to various somatic tumors and exceptionally it undergoes melanocytic neuroectodermal tumor (MNT) transformation, a process that is not well-described. We report a patient with a postchemotherapy thymic teratoma associated with an MNT component who, 10 years later, additionally presented a vertebral metastasis corresponding to an anaplastic MNT. Using exome sequencing of the mature teratoma, the MNT and its metastatic vertebral anaplastic MNT components, we identified 19 somatic mutations shared by at least two components. Six mutations were common to all three components, and three of them were located in the known cancer-related genes
    MeSH term(s) Humans ; Proto-Oncogene Proteins p21(ras)/genetics ; Teratoma/genetics ; Neoplasms, Germ Cell and Embryonal ; Neuroectodermal Tumors ; Genomics
    Chemical Substances Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
    Language English
    Publishing date 2023-05-09
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2835759-0
    ISSN 2373-2873 ; 2373-2873
    ISSN (online) 2373-2873
    ISSN 2373-2873
    DOI 10.1101/mcs.a006257
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

    Carapito, Raphael / Ivanova, Ekaterina L / Morlon, Aurore / Meng, Linyan / Molitor, Anne / Erdmann, Eva / Kieffer, Bruno / Pichot, Angélique / Naegely, Lydie / Kolmer, Aline / Paul, Nicodème / Hanauer, Antoine / Tran Mau-Them, Frédéric / Jean-Marçais, Nolwenn / Hiatt, Susan M / Cooper, Gregory M / Tvrdik, Tatiana / Muir, Alison M / Dimartino, Clémantine /
    Chopra, Maya / Amiel, Jeanne / Gordon, Christopher T / Dutreux, Fabien / Garde, Aurore / Thauvin-Robinet, Christel / Wang, Xia / Leduc, Magalie S / Phillips, Meredith / Crawford, Heather P / Kukolich, Mary K / Hunt, David / Harrison, Victoria / Kharbanda, Mira / Smigiel, Robert / Gold, Nina / Hung, Christina Y / Viskochil, David H / Dugan, Sarah L / Bayrak-Toydemir, Pinar / Joly-Helas, Géraldine / Guerrot, Anne-Marie / Schluth-Bolard, Caroline / Rio, Marlène / Wentzensen, Ingrid M / McWalter, Kirsty / Schnur, Rhonda E / Lewis, Andrea M / Lalani, Seema R / Mensah-Bonsu, Noël / Céraline, Jocelyn / Sun, Zijie / Ploski, Rafal / Bacino, Carlos A / Mefford, Heather C / Faivre, Laurence / Bodamer, Olaf / Chelly, Jamel / Isidor, Bertrand / Bahram, Seiamak

    American journal of human genetics

    2019  Volume 106, Issue 1, Page(s) 137

    Language English
    Publishing date 2019-12-24
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.11.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 107: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  3. Article ; Online: ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

    Carapito, Raphael / Ivanova, Ekaterina L / Morlon, Aurore / Meng, Linyan / Molitor, Anne / Erdmann, Eva / Kieffer, Bruno / Pichot, Angélique / Naegely, Lydie / Kolmer, Aline / Paul, Nicodème / Hanauer, Antoine / Tran Mau-Them, Frédéric / Jean-Marçais, Nolwenn / Hiatt, Susan M / Cooper, Gregory M / Tvrdik, Tatiana / Muir, Alison M / Dimartino, Clémantine /
    Chopra, Maya / Amiel, Jeanne / Gordon, Christopher T / Dutreux, Fabien / Garde, Aurore / Thauvin-Robinet, Christel / Wang, Xia / Leduc, Magalie S / Phillips, Meredith / Crawford, Heather P / Kukolich, Mary K / Hunt, David / Harrison, Victoria / Kharbanda, Mira / Smigiel, Robert / Gold, Nina / Hung, Christina Y / Viskochil, David H / Dugan, Sarah L / Bayrak-Toydemir, Pinar / Joly-Helas, Géraldine / Guerrot, Anne-Marie / Schluth-Bolard, Caroline / Rio, Marlène / Wentzensen, Ingrid M / McWalter, Kirsty / Schnur, Rhonda E / Lewis, Andrea M / Lalani, Seema R / Mensah-Bonsu, Noël / Céraline, Jocelyn / Sun, Zijie / Ploski, Rafal / Bacino, Carlos A / Mefford, Heather C / Faivre, Laurence / Bodamer, Olaf / Chelly, Jamel / Isidor, Bertrand / Bahram, Seiamak

    American journal of human genetics

    2019  Volume 104, Issue 2, Page(s) 319–330

    Abstract: ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth ...

    Abstract ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations. Of these 19, 14 unrelated subjects carried de novo heterozygous single-nucleotide variants (SNVs) or single-base insertions/deletions, 3 siblings harbored a heterozygous single-base insertion, and 2 subjects had a balanced translocation disrupting ZMIZ1 or involving a regulatory region of ZMIZ1. In total, we identified 13 point mutations that affect key protein regions, including a SUMO acceptor site, a central disordered alanine-rich motif, a proline-rich domain, and a transactivation domain. All identified variants were absent from all available exome and genome databases. In vitro, ZMIZ1 showed impaired coactivation of the androgen receptor. In vivo, overexpression of ZMIZ1 mutant alleles in developing mouse brains using in utero electroporation resulted in abnormal pyramidal neuron morphology, polarization, and positioning, underscoring the importance of ZMIZ1 in neural development and supporting mutations in ZMIZ1 as the cause of a rare neurodevelopmental syndrome.
    MeSH term(s) Alleles ; Animals ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Female ; Humans ; Infant ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Mice ; Point Mutation ; Syndrome ; Transcription Factors/chemistry ; Transcription Factors/genetics ; Transcription Factors/metabolism
    Chemical Substances Transcription Factors ; ZMIZ1 protein, human
    Language English
    Publishing date 2019-01-10
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.12.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 107: 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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  4. Article ; Online: Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

    Carapito, Raphael / Konantz, Martina / Paillard, Catherine / Miao, Zhichao / Pichot, Angélique / Leduc, Magalie S / Yang, Yaping / Bergstrom, Katie L / Mahoney, Donald H / Shardy, Deborah L / Alsaleh, Ghada / Naegely, Lydie / Kolmer, Aline / Paul, Nicodème / Hanauer, Antoine / Rolli, Véronique / Müller, Joëlle S / Alghisi, Elisa / Sauteur, Loïc /
    Macquin, Cécile / Morlon, Aurore / Sancho, Consuelo Sebastia / Amati-Bonneau, Patrizia / Procaccio, Vincent / Mosca-Boidron, Anne-Laure / Marle, Nathalie / Osmani, Naël / Lefebvre, Olivier / Goetz, Jacky G / Unal, Sule / Akarsu, Nurten A / Radosavljevic, Mirjana / Chenard, Marie-Pierre / Rialland, Fanny / Grain, Audrey / Béné, Marie-Christine / Eveillard, Marion / Vincent, Marie / Guy, Julien / Faivre, Laurence / Thauvin-Robinet, Christel / Thevenon, Julien / Myers, Kasiani / Fleming, Mark D / Shimamura, Akiko / Bottollier-Lemallaz, Elodie / Westhof, Eric / Lengerke, Claudia / Isidor, Bertrand / Bahram, Seiamak

    The Journal of clinical investigation

    2017  Volume 127, Issue 11, Page(s) 4090–4103

    Abstract: Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound ... ...

    Abstract Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-negative SDS family and candidate gene sequencing in additional SBDS-negative SDS cases or molecularly undiagnosed IBMFS cases, we identified 3 independent patients, each of whom carried a de novo missense variant in srp54 (encoding signal recognition particle 54 kDa). These 3 patients shared congenital neutropenia linked with various other SDS phenotypes. 3D protein modeling revealed that the 3 variants affect highly conserved amino acids within the GTPase domain of the protein that are critical for GTP and receptor binding. Indeed, we observed that the GTPase activity of the mutated proteins was impaired. The level of SRP54 mRNA in the bone marrow was 3.6-fold lower in patients with SRP54-mutations than in healthy controls. Profound reductions in neutrophil counts and chemotaxis as well as a diminished exocrine pancreas size in a SRP54-knockdown zebrafish model faithfully recapitulated the human phenotype. In conclusion, autosomal dominant mutations in SRP54, a key member of the cotranslation protein-targeting pathway, lead to syndromic neutropenia with a Shwachman-Diamond-like phenotype.
    MeSH term(s) Animals ; Bone Marrow Diseases/genetics ; Child ; Congenital Bone Marrow Failure Syndromes ; DNA Mutational Analysis ; Exocrine Pancreatic Insufficiency/genetics ; Female ; Genetic Association Studies ; Humans ; Infant ; Lipomatosis/genetics ; Male ; Models, Molecular ; Neutropenia/congenital ; Neutropenia/genetics ; Pancreas, Exocrine/metabolism ; Phenotype ; Protein Domains ; Shwachman-Diamond Syndrome ; Signal Recognition Particle/chemistry ; Signal Recognition Particle/genetics ; Zebrafish
    Chemical Substances SRP54 protein, human ; Signal Recognition Particle
    Language English
    Publishing date 2017-10-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3067-3
    ISSN 1558-8238 ; 0021-9738
    ISSN (online) 1558-8238
    ISSN 0021-9738
    DOI 10.1172/JCI92876
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ua VI Zs.184: Show issues Location:
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