4 Works

Dataset for: A structural signature motif enlightens the origin and diversification of nuclear receptors

Gabriel V. Markov, Brice Beinsteiner, Vincent Laudet, Dino Moras & Isabelle Marie Louise Billas
Nuclear receptors are ligand-activated transcription factors that modulate gene regulatory networks from embryonic development to adult physiology and thus represent major targets for clinical interventions in many diseases. Most nuclear receptors function either as homodimers or as heterodimers. The dimerization is crucial for gene regulation by nuclear receptors, by extending the repertoire of binding sites in the promoters or the enhancers of target genes via combinatorial interactions. Here, we focused our attention on an unusual...

Clinical features in X-linked myotubular myopathy carriers

Stacha Reumers, Frederik Braun, Jennifer Spillane, Johann Böhm, Maartje Pennings, Meyke Schouten, Anneke Van Der Kooi, Reghan Foley, Carsten Bönnemann, Erik-Jan Kamsteeg, Corrie Erasmus, Ulrike Schara-Schmidt, Heinz Jungbluth & Nicol Voermans
Objective: To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms and signs, as well as associated disease burden. Methods: We performed a cross-sectional online questionnaire study among XL-MTM carriers. Participants were recruited from patient associations, medical centers and registries in the United Kingdom, Germany and the Netherlands. We used a custom-made questionnaire, the Checklist Individual Strength (CIS), the Frenchay Activities Index (FAI),...

Data from: TAF4, a subunit of transcription factor II D, directs promoter occupancy of nuclear receptor HNF4A during post-natal hepatocyte differentiation

Daniil Alpern, Diana Langer, Benoit Ballester, Stephanie Le Gras, Christophe Romier, Gabrielle Mengus & Irwin Davidson
The functions of the TAF subunits of mammalian TFIID in physiological processes remain poorly characterised. Here we describe a novel function of TAFs in directing genomic occupancy of a transcriptional activator. Using liver-specific inactivation in mice, we show that the TAF4 subunit of TFIID is required for post-natal hepatocyte maturation. TAF4 promotes pre-initiation complex (PIC) formation at post-natal expressed liver function genes and down-regulates a subset of embryonic expressed genes by increased RNA polymerase II...

Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1-disease

Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz-Laguna, Sevda Erer, Valerie Cornelia Schütz, Alexander Tarnutzer, Marc Sturm, Tobias Haack, Nadège Vaucamps-Diedhiou, Helene Puccio, Ludger Schöls, Thomas Klockgether, Bart P. Van De Warrenburg, Martin Paucar, Dagmar Timmann, Ralf-Dieter Hilgers, Jose Gazulla, Michael Strupp … & Matthis Synofzik
Objective: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of RFC1-repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Methods: Multimodal RFC1 repeat screening (PCR, southern blot, whole-exome/genome (WES/WGS)-based approaches) combined with cross-sectional and longitudinal deep-phenotyping in (i) cross-European cohort A (70 families) with ≥2 features of CANVAS and/or ataxia-with-chronic-cough (ACC); and (ii) Turkish cohort B (105 families) with unselected late-onset ataxia. Results:...

Registration Year

  • 2021
    2
  • 2020
    1
  • 2014
    1

Resource Types

  • Dataset
    4

Affiliations

  • Institute of Genetics and Molecular and Cellular Biology
    4
  • Essen University Hospital
    2
  • Radboud University Nijmegen Medical Centre
    2
  • Koç University
    1
  • Karolinska University Hospital
    1
  • University of Strasbourg
    1
  • University Hospital Heidelberg
    1
  • Hospital Universitario Miguel Servet
    1
  • National Institute of Neurological Disorders and Stroke
    1
  • University Hospital Bonn
    1