Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Item
http://www.wikidata.org/entity/Q34657511
Phosphatidylserine is a global immunosuppressive signal in efferocytosis, infectious disease, and cancerPhosphatidylserine synthesis at membrane contact sites promotes its transport out of the ER.Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctionsAn overview of inborn errors of complex lipid biosynthesis and remodelling.Variation in human cancer cell external phosphatidylserine is regulated by flippase activity and intracellular calcium.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.The Power of Zebrafish in Personalised Medicine.Looking Beyond Structure: Membrane Phospholipids of Skeletal Muscle Mitochondria.Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.Craniovertebral junction stenosis in Lenz-Majewski syndrome.Historical Perspective: Phosphatidylserine and Phosphatidylethanolamine from the 1800s to the Present.Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
P2860

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Item
http://www.wikidata.org/entity/Q34657511
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2013 nî lūn-bûn
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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
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2013年論文
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2013年论文
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name
Gain-of-function mutations in ...... cause Lenz-Majewski syndrome.
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Gain-of-function mutations in ...... cause Lenz-Majewski syndrome.
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Gain-of-function mutations in the phosphatidylserine synthase 1
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type
label
Gain-of-function mutations in ...... cause Lenz-Majewski syndrome.
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Gain-of-function mutations in ...... cause Lenz-Majewski syndrome.
@en
Gain-of-function mutations in the phosphatidylserine synthase 1
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Gain-of-function mutations in ...... cause Lenz-Majewski syndrome.
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Gain-of-function mutations in ...... cause Lenz-Majewski syndrome.
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Gain-of-function mutations in the phosphatidylserine synthase 1
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P1476
P2093
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P2888
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Gain-of-function mutations in ...... cause Lenz-Majewski syndrome.
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P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698