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Ryanodine receptor ...
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
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- Nilipour, Yalda (författare)
- Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Iran
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- Nafissi, Shahriar (författare)
- Tehran University of Medical Sciences, Iran
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- Tjust, Anton E. (författare)
- Umeå universitet,Institutionen för integrativ medicinsk biologi (IMB),Oftalmiatrik,Umeå University, Sweden
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- Ravenscroft, Gianina (författare)
- The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia
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- Hossein-Nejad Nedai, Hamid (författare)
- Shahid Beheshti University of Medical Sciences, Iran
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- Taylor, Rhonda L. (författare)
- The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia
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- Varasteh, Vahid (författare)
- Shahid Beheshti University of Medical Sciences, Iran
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- Pedrosa Domellöf, Fatima (författare)
- Umeå universitet,Institutionen för integrativ medicinsk biologi (IMB),Oftalmiatrik,Umeå University, Sweden
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- Zangi, Mahdi (författare)
- National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Iran
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- Tonekaboni, Seyed Hassan (författare)
- Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Iran
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- Olivé, M. (författare)
- IDIBELL-Hospital de Bellvitge, Barcelona, Spain
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- Kiiski, Kirsi (författare)
- Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Finland
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- Sagath, L. (författare)
- Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Finland
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- Davis, Mark R. (författare)
- Pathwest, QEII Medical Centre, Nedlands, Western Australia
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- Laing, Nigel G. (författare)
- The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia
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- Tajsharghi, Homa (författare)
- Högskolan i Skövde,Institutionen för hälsa och lärande,Forskningsspecialiseringen Hälsa och Lärande,The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia,Biomedical Genetics / Translational Medicine (TRIM)
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(creator_code:org_t)
- 2018-03-26
- 2018
- Engelska.
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Ingår i: European Journal of Neurology. - : Blackwell Publishing. - 1351-5101 .- 1468-1331. ; 25:6, s. 841-847
- Relaterad länk:
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https://onlinelibrar...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Background: Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved. This study describes compound heterozygosity for rare variants in RYR3 in one such patient.Results: Clinical examination of the patient at 22 years of age revealed a long-narrow face, high arched palate and bilateral facial weakness. She had proximal weakness in all four limbs, mild scapular winging but no scoliosis. Muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy. Abundant nemaline bodies were located in perinuclear areas, subsarcolemmal and within the cytoplasm. No likely pathogenic mutations in known nemaline myopathy genes were identified. Copy number variation in known nemaline myopathy genes was excluded by nemaline myopathy targeted array-CGH. Next generation sequencing revealed compound heterozygous missense variants in the ryanodine receptor type 3 gene (RYR3). RYR3 transcripts are expressed in human fetal and adult skeletal muscle as well as in human brain or cauda equina samples. Immunofluorescence of human skeletal muscle revealed a "single-row" appearance of RYR3, interspaced between the "double-rows" of RYR1 at each A-I junction.Conclusion: The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.
Ämnesord
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- 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)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Nyckelord
- RYR3
- intracellular Ca2+ channels
- nemaline myopathy
- ryanodine receptors
- Biomedical Genetics
- Biomedicinsk genetik
- Translationell medicin TRIM
- Translational Medicine TRIM
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Nilipour, Yalda
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Nafissi, Shahria ...
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Tjust, Anton E.
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Ravenscroft, Gia ...
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Hossein-Nejad Ne ...
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Taylor, Rhonda L ...
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visa fler...
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Varasteh, Vahid
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Pedrosa Domellöf ...
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Zangi, Mahdi
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Tonekaboni, Seye ...
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Olivé, M.
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Kiiski, Kirsi
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Sagath, L.
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Davis, Mark R.
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Laing, Nigel G.
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Tajsharghi, Homa
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Högskolan i Skövde
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Umeå universitet