Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
about
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaEvidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunctionAdvances in Skeletal Dysplasia GeneticsYunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphataseSHIP2 regulates epithelial cell polarity through its lipid product, which binds to Dlg1, a pathway subverted by hepatitis C virus core proteinDecreased Sp1 Expression Mediates Downregulation of SHIP2 in Gastric Cancer Cells.An overview of inborn errors of complex lipid biosynthesis and remodelling.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.SHIP2: Structure, Function and Inhibition.INPPL1 gene mutations in opsismodysplasiaStructural basis for interdomain communication in SHIP2 providing high phosphatase activity.Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.
P2860
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P2860
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
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Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@ast
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@en
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@en-gb
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@nl
type
label
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@ast
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@en
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@en-gb
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@nl
prefLabel
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@ast
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@en
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@en-gb
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@nl
P2093
P2860
P50
P1476
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
@en
P2093
Amandine Frigo
Deborah Bartholdi
Denise P Cavalcanti
Eissa Ali Faqeih
Heloísa G Santos
Joelle Roume
Patrick Nitschke
Stavit A Shalev
Zvi Borochowitz
P2860
P356
10.1016/J.AJHG.2012.11.015
P407
P50
P577
2013-01-10T00:00:00Z