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  1. AU="Antonio Vitobello"
  2. AU="Paulus Rahardjo"
  3. AU="Geier, Martina"
  4. AU="Kwon, Tae-Hwan"
  5. AU="Christos Barboutis, "
  6. AU="Fayaz, U"
  7. AU="Ba, Yabo"
  8. AU="Stevens, Valerie A"
  9. AU="Kahouli, Sophia"
  10. AU="Sun, Chuanrui"
  11. AU="Carrera, Carlo Giovanni"
  12. AU="Secrieru, Oana Manuela"
  13. AU="Wang, Lanzhong"

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  1. Artikel ; Online: Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency

    Roberto Oleari / Antonella Lettieri / Stefano Manzini / Alyssa Paganoni / Valentina André / Paolo Grazioli / Marco Busnelli / Paolo Duminuco / Antonio Vitobello / Christophe Philippe / Varoona Bizaoui / Helen L. Storr / Federica Amoruso / Fani Memi / Valeria Vezzoli / Valentina Massa / Peter Scheiffele / Sasha R. Howard / Anna Cariboni

    Disease Models & Mechanisms, Vol 16, Iss

    2023  Band 3

    Schlagwörter gnrh neurons ; transcriptome ; nlgn3 ; neuritogenesis ; delayed puberty ; autism spectrum disorder ; Medicine ; R ; Pathology ; RB1-214
    Sprache Englisch
    Erscheinungsdatum 2023-03-01T00:00:00Z
    Verlag The Company of Biologists
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother

    Elena Longobardi / Francesco Miceli / Agnese Secondo / Rita Cicatiello / Antonella Izzo / Nadia Tinto / Sebastien Moutton / Frédéric Tran Mau-Them / Antonio Vitobello / Maurizio Taglialatela

    Stem Cell Research, Vol 53, Iss , Pp 102311- (2021)

    2021  

    Abstract: Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy ... ...

    Abstract Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disability who carry a homozygous single-base duplication in exon 12 of KCNQ3 (NM_004519.3: KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15), and from a non-carrier brother of the proband. For iPSC generation, non-integrating episomal plasmid vectors were used to transfect fibroblasts isolated from skin biopsies. The obtained iPSC lines had a normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and possessed trilineage differentiation potential.
    Schlagwörter Biology (General) ; QH301-705.5
    Thema/Rubrik (Code) 572
    Sprache Englisch
    Erscheinungsdatum 2021-05-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

    Robert Schöpflin / Uirá Souto Melo / Hossein Moeinzadeh / David Heller / Verena Laupert / Jakob Hertzberg / Manuel Holtgrewe / Nico Alavi / Marius-Konstantin Klever / Julius Jungnitsch / Emel Comak / Seval Türkmen / Denise Horn / Yannis Duffourd / Laurence Faivre / Patrick Callier / Damien Sanlaville / Orsetta Zuffardi / Romano Tenconi /
    Nehir Edibe Kurtas / Sabrina Giglio / Bettina Prager / Anna Latos-Bielenska / Ida Vogel / Merete Bugge / Niels Tommerup / Malte Spielmann / Antonio Vitobello / Vera M. Kalscheuer / Martin Vingron / Stefan Mundlos

    Nature Communications, Vol 13, Iss 1, Pp 1-

    2022  Band 15

    Abstract: Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and the ... ...

    Abstract Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and the three-dimensional chromatin architecture. They find breakpoints are enriched in inactive regions and can result in chromatin domain fusions.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2022-10-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome

    Aidin Foroutan / Sadegheh Haghshenas / Pratibha Bhai / Michael A. Levy / Jennifer Kerkhof / Haley McConkey / Marcello Niceta / Andrea Ciolfi / Lucia Pedace / Evelina Miele / David Genevieve / Solveig Heide / Mariëlle Alders / Giuseppe Zampino / Giuseppe Merla / Mélanie Fradin / Eric Bieth / Dominique Bonneau / Klaus Dieterich /
    Patricia Fergelot / Elise Schaefer / Laurence Faivre / Antonio Vitobello / Silvia Maitz / Rita Fischetto / Cristina Gervasini / Maria Piccione / Ingrid van de Laar / Marco Tartaglia / Bekim Sadikovic / Anne-Sophie Lebre

    International Journal of Molecular Sciences, Vol 23, Iss 1815, p

    2022  Band 1815

    Abstract: Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be ... ...

    Abstract Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A -related syndrome could allow functional classification of variants and provide insights into the pathophysiology of WDSTS. Therefore, we assessed genome-wide DNA methylation profiles in a cohort of 60 patients with clinical diagnosis for WDSTS or Kabuki and identified a unique highly sensitive and specific DNA methylation episignature as a molecular biomarker of WDSTS. WDSTS episignature enabled classification of variants of uncertain significance in the KMT2A gene as well as confirmation of diagnosis in patients with clinical presentation of WDSTS without known genetic variants. The changes in the methylation profile resulting from KMT2A mutations involve global reduction in methylation in various genes, including homeobox gene promoters. These findings provide novel insights into the molecular etiology of WDSTS and explain the broad phenotypic spectrum of the disease.
    Schlagwörter epigenetics ; DNA methylation ; episignature ; Wiedemann–Steiner syndrome ; KMT2A gene ; intellectual disability ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2022-02-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

    Julian Delanne / Ange-Line Bruel / Frédéric Huet / Sébastien Moutton / Sophie Nambot / Margot Grisval / Nada Houcinat / Paul Kuentz / Arthur Sorlin / Patrick Callier / Nolwenn Jean-Marcais / Anne-Laure Mosca-Boidron / Frédéric Tran Mau-Them / Anne-Sophie Denommé-Pichon / Antonio Vitobello / Daphné Lehalle / Salima El Chehadeh / Christine Francannet / Marine Lebrun /
    Laetitia Lambert / Marie-Line Jacquemont / Marion Gerard-Blanluet / Jean-Luc Alessandri / Marjolaine Willems / Julien Thevenon / Mondher Chouchane / Véronique Darmency / Clémence Fatus-Fauconnier / Sébastien Gay / Marie Bournez / Alice Masurel / Vanessa Leguy / Yannis Duffourd / Christophe Philippe / François Feillet / Laurence Faivre / Christel Thauvin-Robinet

    Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)

    2021  

    Abstract: Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with ... ...

    Abstract Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspecific developmental disorders (DD). IMDs were diagnosed in 12% of individuals with causative diagnosis (177/547). There are clear benefits of using ES in DD to diagnose IMD, particularly in cases where biochemical studies are unavailable. Synopsis: Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.
    Schlagwörter Inherited metabolic disorders ; Exome sequencing ; Intellectual disability ; Developmental delay ; Genotype first ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Sprache Englisch
    Erscheinungsdatum 2021-12-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel: Ezh2 Orchestrates Topographic Migration and Connectivity of Mouse Precerebellar Neurons

    Di Meglio, Thomas / Alberto Loche / Anne Eichmann / Antoine H. F. M. Peters / Antonio Vitobello / Botond Roska / Claudius F. Kratochwil / Deneen Wellik / Filippo M. Rijli / Keisuke Yonehara / Nathalie Vilain / Sebastien Ducret / Steven M. Hrycaj

    Science. 2013 Jan. 11, v. 339, no. 6116

    2013  

    Abstract: Destination Specificity During brain development, some types of neurons migrate from where they are born to their final functional locations. Some neurons migrate radially, from the inside to the outside, while others migrate tangentially. Di Meglio et ... ...

    Abstract Destination Specificity During brain development, some types of neurons migrate from where they are born to their final functional locations. Some neurons migrate radially, from the inside to the outside, while others migrate tangentially. Di Meglio et al. (p. 204) analyzed the migration of a group of tangentially migrating neurons in the hindbrain. Although these neurons all entered the same migratory stream, they each retained positional information such that their relative organization in the destination site reflected their original organization. Interactions between epigenetic signals and the genes encoding Hox transcription factors encoded the positional information and fine-tuned migration.
    Schlagwörter brain ; epigenetics ; genes ; mice ; neurons ; transcription (genetics) ; transcription factors
    Sprache Englisch
    Erscheinungsverlauf 2013-0111
    Umfang p. 204-207.
    Erscheinungsort American Association for the Advancement of Science
    Dokumenttyp Artikel
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.1229326
    Datenquelle NAL Katalog (AGRICOLA)

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