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Inferring disease c...
Inferring disease course from differential exon usage in the wide titinopathy spectrum
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- 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
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- Oghabian, Ali (författare)
- Folkhhälsan Research Center, Helsinki, Uusimaa, Finland
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- 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
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- 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
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- Forzano, Francesca (författare)
- Clinical Genetics Department, Guy’s and St Thomas NHS Foundation Trust, London, SE1 9RT, UK
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- Malfatti, Edoardo (författare)
- Universite Paris Est Creteil, INSERM, U955, IMRB, and Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Creteil, France
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- Castiglioni, Claudia (författare)
- Clinica MEDS, Santiago de Chile, Chile
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- Krey, Ilona (författare)
- Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 4275, Germany
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- Gomez Andres, David (författare)
- Child Neurology Unit. Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Barcelona, Spain
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- Brady, Angela F. (författare)
- North West Thames Regional Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK
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- Iascone, Maria (författare)
- Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy
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- Cereda, Anna (författare)
- Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy
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- Pezzani, Lidia (författare)
- Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy
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- Natera De Benito, Daniel (författare)
- Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain
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- Nascimiento Osorio, Andres (författare)
- Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain
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- Estévez Arias, Berta (författare)
- Neuromuscular Unit, Department of Neurology, Hospital Sant Joan De Déu, Barcelona, Spain
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- Kurbatov, Sergei A. (författare)
- Voronezh NN Burdenko State Medical University, Voronezh, 394036, Russia ; Saratov State Medical University, Saratov, 410012, Russia
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- Attie-Bitach, Tania (författare)
- Unité D'embryofoetopathologie, Service D'histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France
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- Nampoothiri, Sheela (författare)
- Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, Kerala, India
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- Ryan, Erin (författare)
- GeneDx, Gaithersburg, Maryland, USA
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- Morrow, Michelle (författare)
- GeneDx, Gaithersburg, Maryland, USA
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- Gorokhova, Svetlana (författare)
- Marseille Medical Genetics, Aix Marseille Université, Faculté Des Sciences Médicales Et Paramédicales, Marseille, France
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- Chabrol, Brigitte (författare)
- Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, France
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- Sinisalo, Juha (författare)
- Helsinki University Central Hospital, Finland
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- Tolppanen, Heli (författare)
- Helsinki University Central Hospital, Finland
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- Tolva, Johanna (författare)
- Transplantation Laboratory, Department of Pathology, University of Helsinki, Finland
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- Munell, Francina (författare)
- Unitat De Malalties Neuromusculars Pediàtriques, Hospital Universitari Vall D'Hebron, Barcelona, Spain
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- Camacho Soriano, Jessica (författare)
- Histology Department, Vall D'Hebron University Hospital, Barcelona, Spain
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- Sanchez Duran, Maria Angeles (författare)
- Maternal Fetal Medicine Unit, Department of Obstetrics, Universitat Autònoma de Barcelona, Hospital Vall D'Hebron, Barcelona, Spain
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- 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
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- Tajsharghi, Homa (författare)
- Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translational Medicine TRIM
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- Hackman, Peter (författare)
- Folkhälsan Research Center, Helsinki, Uusimaa, Finland
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- Udd, Bjarne (författare)
- Folkhälsan Research Center, Helsinki, Uusimaa, Finland ; Department of Musculoskeletal Diseases, Tampere University Hospital, Tampere, Pirkanmaa, Finland
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- Savarese, Marco (författare)
- Folkhälsan Research Center, Uusimaa, Helsinki, Finland
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(creator_code:org_t)
- 2024
- 2024
- Engelska.
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Ingår i: Annals of Clinical and Translational Neurology. - : John Wiley & Sons. - 2328-9503.
- Relaterad länk:
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https://doi.org/10.1...
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https://his.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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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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Di Feo, Maria Fr ...
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Oghabian, Ali
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Nippala, Ella
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Gautel, Mathias
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Jungbluth, Heinz
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Forzano, Frances ...
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visa fler...
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Malfatti, Edoard ...
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Castiglioni, Cla ...
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Krey, Ilona
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Gomez Andres, Da ...
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Brady, Angela F.
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Iascone, Maria
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Cereda, Anna
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Pezzani, Lidia
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Natera De Benito ...
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Nascimiento Osor ...
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Estévez Arias, B ...
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Kurbatov, Sergei ...
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Attie-Bitach, Ta ...
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Nampoothiri, She ...
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Ryan, Erin
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Morrow, Michelle
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Gorokhova, Svetl ...
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Chabrol, Brigitt ...
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Sinisalo, Juha
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Tolppanen, Heli
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Tolva, Johanna
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Munell, Francina
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Camacho Soriano, ...
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Sanchez Duran, M ...
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Johari, Mridul
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Tajsharghi, Homa
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Hackman, Peter
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Udd, Bjarne
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Savarese, Marco
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Högskolan i Skövde