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The Swedish COG6-CD...
The Swedish COG6-CDG experience and a comprehensive literature review
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- Xia, Zhi Jie (författare)
- Sanford Burnham Prebys Medical Discovery Institute
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- Ng, Bobby G. (författare)
- Sanford Burnham Prebys Medical Discovery Institute
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- Jennions, Elizabeth (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Sahlgrenska Academy
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- Blomqvist, Maria K., 1975 (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrenska University Hospital
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- Sandqvist Wiklund, Anneli (författare)
- Karolinska University Hospital
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- Oldfors Hedberg, Carola, 1969 (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine
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- Gonzalez, Carlos Rodriguez (författare)
- Sahlgrenska University Hospital
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- Freeze, Hudson H. (författare)
- Sanford Burnham Prebys Medical Discovery Institute
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- Ygberg, Sofia (författare)
- Karolinska Institute,Karolinska Institutet,Karolinska University Hospital
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- Eklund, Erik A. (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital,Sanford Burnham Prebys Medical Discovery Institute
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(creator_code:org_t)
- 2022-09-21
- 2023
- Engelska.
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Ingår i: JIMD Reports. - : Wiley. - 2192-8304 .- 2192-8312. ; , s. 79-89
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6-congenital disorders of glycosylation (COG6-CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compound heterozygous variants in COG6 were identified, where one (c.785A>G; p.Tyr262Cys) has previously been described in patients of Moroccan descent, whereas the other (c.238G>A; p.Glu80Lys) is undescribed. On the other hand, a previously undescribed homozygous duplication (c.1793_1795dup) was deemed the cause of the disease. To confirm the pathogenicity of the variants, we treated patient and control fibroblasts with the ER-Golgi transport inhibitor Brefeldin-A and show that patient cells manifest a significantly slower anterograde and retrograde ER-Golgi transport.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Brefeldin A
- COG6
- congenital disorders of
- enamel hypoplasia
- glycosylation
- glycosylation
- hypohidrosis
Publikations- och innehållstyp
- vet (ämneskategori)
- kap (ämneskategori)
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