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GRN Variant rs5848 ...
GRN Variant rs5848 Reduces Plasma and Brain Levels of Granulin in Alzheimer's Disease Patients.
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Kämäläinen, Anna (author)
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Viswanathan, Jayashree (author)
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Natunen, Teemu (author)
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Helisalmi, Seppo (author)
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Kauppinen, Tarja (author)
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Pikkarainen, Maria (author)
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Pursiheimo, Juha-Pekka (author)
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- Alafuzoff, Irina (author)
- Uppsala universitet,Molekylär och morfologisk patologi,Alafuzoff
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- Kivipelto, Miia (author)
- Karolinska Institutet
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Haapasalo, Annakaisa (author)
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Soininen, Hilkka (author)
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Herukka, Sanna-Kaisa (author)
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Hiltunen, Mikko (author)
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(creator_code:org_t)
- 2013
- 2013
- English.
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In: Journal of Alzheimer's disease : JAD. - 1875-8908. ; 33:1, s. 23-7
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.3...
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Abstract
Subject headings
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- Genetic variants in the granulin (GRN) gene have been shown to increase the risk of Alzheimer's disease (AD). Here, we report that the A allele of rs5848 in GRN reduces plasma granulin levels in a dose-dependent manner in a clinically-defined AD sample cohort. Similarly, the mRNA levels of granulin were decreased with respect to A allele of rs5848 in the inferior temporal cortex of neuropathologically confirmed AD patients. Our findings suggest that the A allele of rs5848 is functionally relevant by reducing the expression of granulin.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Pathology
- Patologi
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Kämäläinen, Anna
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Viswanathan, Jay ...
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Natunen, Teemu
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Helisalmi, Seppo
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Kauppinen, Tarja
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Pikkarainen, Mar ...
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show more...
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Pursiheimo, Juha ...
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Alafuzoff, Irina
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Kivipelto, Miia
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Haapasalo, Annak ...
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Soininen, Hilkka
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Herukka, Sanna-K ...
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Hiltunen, Mikko
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show less...
- 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 Clinical Laborat ...
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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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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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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
- Articles in the publication
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Journal of Alzhe ...
- By the university
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Uppsala University
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Karolinska Institutet