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Inferring disease course from differential exon usage in the wide titinopathy spectrum

Di Feo, Maria Francesca (författare)
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Italy ; Folkhälsan Research Center, Uusimaa, Helsinki, Finland
Oghabian, Ali (författare)
Folkhhälsan Research Center, Helsinki, Uusimaa, Finland
Nippala, Ella (författare)
Folkhhälsan Research Center, Helsinki, Uusimaa, Finland
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Gautel, Mathias (författare)
Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King’s College London BHF Centre of Research Excellence, London, UK
Jungbluth, Heinz (författare)
Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King’s College London BHF Centre of Research Excellence, London, UK ; Paediatric Neurology, Neuromuscular Service, Evelina’s Children Hospital, Guy’s and St Thomas’ Hospitals NHS Trust, London, UK
Forzano, Francesca (författare)
Clinical Genetics Department, Guy’s and St Thomas NHS Foundation Trust, London, SE1 9RT, UK
Malfatti, Edoardo (författare)
Universite Paris Est Creteil, INSERM, U955, IMRB, and Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Creteil, France
Castiglioni, Claudia (författare)
Clinica MEDS, Santiago de Chile, Chile
Krey, Ilona (författare)
Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 4275, Germany
Gomez Andres, David (författare)
Child Neurology Unit. Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Barcelona, Spain
Brady, Angela F. (författare)
North West Thames Regional Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK
Iascone, Maria (författare)
Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy
Cereda, Anna (författare)
Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy
Pezzani, Lidia (författare)
Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy
Natera De Benito, Daniel (författare)
Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain
Nascimiento Osorio, Andres (författare)
Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain
Estévez Arias, Berta (författare)
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan De Déu, Barcelona, Spain
Kurbatov, Sergei A. (författare)
Voronezh NN Burdenko State Medical University, Voronezh, 394036, Russia ; Saratov State Medical University, Saratov, 410012, Russia
Attie-Bitach, Tania (författare)
Unité D'embryofoetopathologie, Service D'histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France
Nampoothiri, Sheela (författare)
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, Kerala, India
Ryan, Erin (författare)
GeneDx, Gaithersburg, Maryland, USA
Morrow, Michelle (författare)
GeneDx, Gaithersburg, Maryland, USA
Gorokhova, Svetlana (författare)
Marseille Medical Genetics, Aix Marseille Université, Faculté Des Sciences Médicales Et Paramédicales, Marseille, France
Chabrol, Brigitte (författare)
Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, France
Sinisalo, Juha (författare)
Helsinki University Central Hospital, Finland
Tolppanen, Heli (författare)
Helsinki University Central Hospital, Finland
Tolva, Johanna (författare)
Transplantation Laboratory, Department of Pathology, University of Helsinki, Finland
Munell, Francina (författare)
Unitat De Malalties Neuromusculars Pediàtriques, Hospital Universitari Vall D'Hebron, Barcelona, Spain
Camacho Soriano, Jessica (författare)
Histology Department, Vall D'Hebron University Hospital, Barcelona, Spain
Sanchez Duran, Maria Angeles (författare)
Maternal Fetal Medicine Unit, Department of Obstetrics, Universitat Autònoma de Barcelona, Hospital Vall D'Hebron, Barcelona, Spain
Johari, Mridul (författare)
Folkhälsan Research Center, Helsinki, Uusimaa, Finland ; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Australia
Tajsharghi, Homa (författare)
Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translational Medicine TRIM
Hackman, Peter (författare)
Folkhälsan Research Center, Helsinki, Uusimaa, Finland
Udd, Bjarne (författare)
Folkhälsan Research Center, Helsinki, Uusimaa, Finland ; Department of Musculoskeletal Diseases, Tampere University Hospital, Tampere, Pirkanmaa, Finland
Savarese, Marco (författare)
Folkhälsan Research Center, Uusimaa, Helsinki, Finland
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 (creator_code:org_t)
2024
2024
Engelska.
Ingår i: Annals of Clinical and Translational Neurology. - : John Wiley & Sons. - 2328-9503.
Relaterad länk:
https://doi.org/10.1...
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https://his.diva-por... (primary) (Raw object)
https://urn.kb.se/re...
https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging. Methods: In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023. TTN mutations were detected through exome or genome sequencing. Information about familial and personal clinical history was collected in a standardized form. RNA-sequencing and analysis of TTN exon usage were performed on an internal sample cohort including postnatal skeletal muscles, fetal skeletal muscles, postnatal heart muscles, and fetal heart muscles. In addition, publicly available RNA-sequencing data was retrieved from ENCODE. Results: We generated new RNA-seq data on TTN exons and identified genotype–phenotype correlations with prognostic implications for each titinopathy patient (whether worsening or improving in prenatal and postnatal life) using percentage spliced in (PSI) data for the involved exons. Interestingly, thanks to exon usage, we were also able to rule out a titinopathy diagnosis in one prenatal case. Interpretation: This study demonstrates that exon usage provides valuable insights for a more exhaustive clinical interpretation of TTNtv; additionally, it may serve as a model for implementing personalized medicine in many other genetic diseases, since most genes undergo alternative splicing. 

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)
NATURVETENSKAP  -- Biologi -- Bioinformatik och systembiologi (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Bioinformatics and Systems Biology (hsv//eng)

Nyckelord

Translationell medicin TRIM
Translational Medicine TRIM

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art (ämneskategori)

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