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Novel missense ACAN...
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
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- Stattin, Eva-Lena (author)
- Uppsala University
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- Lindblom, Karin (author)
- Lund University,Lunds universitet,Molekylär skelettbiologi,Forskargrupper vid Lunds universitet,Molecular Skeletal Biology,Lund University Research Groups,Lund Univ, Dept Clin Sci Lund, Rheumatol & Mol Skeletal Biol, BMC-C12, S-22184 Lund, Sweden.
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- Struglics, André (author)
- Lund University,Lunds universitet,Lund OsteoArthritis Division - Nedbrytning av ledbrosk: en biologisk process som leder till artros,Forskargrupper vid Lunds universitet,Lund OsteoArthritis Division - Molecular marker research group,Lund University Research Groups,Lund Univ, Dept Clin Sci Lund, Orthopaed, Lund, Sweden.
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- Önnerfjord, Patrik (author)
- Lund University,Lunds universitet,Molekylär skelettbiologi,Forskargrupper vid Lunds universitet,Molecular Skeletal Biology,Lund University Research Groups,Lund Univ, Dept Clin Sci Lund, Rheumatol & Mol Skeletal Biol, BMC-C12, S-22184 Lund, Sweden.
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- Goldblatt, Jack (author)
- King Edward Memorial Hospital for Women,King Edward Mem Hosp Women, Genet Serv, Perth, WA, Australia.;King Edward Mem Hosp Women, Familial Canc Program Western Australia, Perth, WA, Australia.
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- Dixit, Abhijit (author)
- Nottingham University Hospitals NHS Trust,Nottingham Univ Hosp NHS Trust, Dept Clin Genet, Nottingham, England.
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- Sarkar, Ajoy (author)
- Nottingham University Hospitals NHS Trust,Nottingham Univ Hosp NHS Trust, Dept Clin Genet, Nottingham, England.
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- Randell, Tabitha (author)
- Nottingham University Hospitals NHS Trust,Nottingham Univ Hosp NHS Trust, Dept Paediat Endocrinol, Nottingham, England.
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- Suri, Mohnish (author)
- Nottingham University Hospitals NHS Trust,Nottingham Univ Hosp NHS Trust, Dept Clin Genet, Nottingham, England.
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- Raggio, Cathleen (author)
- Hospital for Special Surgery - New York,Hosp Special Surg, Kathryn O & Alan C Greenberg Ctr Skeletal Dysplas, 535 E 70th St, New York, NY 10021 USA.
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- Davis, Jessica (author)
- Hospital for Special Surgery - New York,Hosp Special Surg, Kathryn O & Alan C Greenberg Ctr Skeletal Dysplas, 535 E 70th St, New York, NY 10021 USA.
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- Carter, Erin (author)
- Hospital for Special Surgery - New York,Hosp Special Surg, Kathryn O & Alan C Greenberg Ctr Skeletal Dysplas, 535 E 70th St, New York, NY 10021 USA.
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- Aspberg, Anders (author)
- Lund University,Lunds universitet,Molekylär skelettbiologi,Forskargrupper vid Lunds universitet,Molecular Skeletal Biology,Lund University Research Groups,Lund Univ, Dept Clin Sci Lund, Rheumatol & Mol Skeletal Biol, BMC-C12, S-22184 Lund, Sweden.
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- Stattin, Evalena (author)
- Uppsala universitet,Medicinsk genetik och genomik
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(creator_code:org_t)
- 2022-03-25
- 2022
- English.
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 12, s. 1-13
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Abstract
Subject headings
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- The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage function. A number of aggrecan (ACAN) gene variants have been linked to skeletal disorders, ranging from short stature to severe chondrodyplasias. Osteochondritis dissecans is a disorder where articular cartilage and subchondral bone fragments come loose from the articular surface. We previously reported a missense ACAN variant linked to familial osteochondritis dissecans, with short stature and early onset osteoarthritis, and now describe three novel ACAN gene variants from additional families with this disorder. Like the previously described variant, these are autosomal dominant missense variants, resulting in single amino acid residue substitutions in the C-type lectin repeat of the aggrecan G3 domain. Functional studies showed that neither recombinant variant proteins, nor full-length variant aggrecan proteoglycan from heterozygous patient cartilage, were secreted to the same level as wild-type aggrecan. The variant proteins also showed decreased binding to known cartilage extracellular matrix ligands. Mapping these and other ACAN variants linked to hereditary skeletal disorders showed a clustering of osteochondritis dissecans-linked variants to the G3 domain. Taken together, this supports a link between missense ACAN variants affecting the aggrecan G3 domain and hereditary osteochondritis dissecans.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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Stattin, Eva-Len ...
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Lindblom, Karin
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Struglics, André
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Önnerfjord, Patr ...
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Goldblatt, Jack
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Dixit, Abhijit
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show more...
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Sarkar, Ajoy
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Randell, Tabitha
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Suri, Mohnish
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Raggio, Cathleen
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Davis, Jessica
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Carter, Erin
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Aspberg, Anders
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Stattin, Evalena
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Rheumatology and ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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Scientific Repor ...
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Lund University
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Uppsala University