Published in Clin Dysmorphol on October 01, 2016
INPPL1 gene mutations in opsismodysplasia. J Hum Genet (2016) 0.75
Identification of a second SH2-domain-containing protein closely related to the phosphatidylinositol polyphosphate 5-phosphatase SHIP. Biochem Biophys Res Commun (1997) 1.54
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med (2007) 1.32
Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae. Am J Med Genet (1984) 1.18
Growth factors and insulin stimulate tyrosine phosphorylation of the 51C/SHIP2 protein. J Biol Chem (1998) 1.16
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. J Med Genet (2003) 1.16
The termination of PI3K signalling by SHIP1 and SHIP2 inositol 5-phosphatases. Adv Enzyme Regul (2003) 1.12
A unique chondrodysplasia secondary to a defect in chondroosseous transformation. Birth Defects Orig Artic Ser (1977) 1.12
SHIP2 multiple functions: a balance between a negative control of PtdIns(3,4,5)P₃ level, a positive control of PtdIns(3,4)P₂ production, and intrinsic docking properties. J Cell Biochem (2011) 1.01
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet (2009) 0.97
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. J Hum Genet (2013) 0.94
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A (2014) 0.83
A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A (2015) 0.82
Lemierre syndrome: a pediatric case series and review of literature. Am J Otolaryngol (2009) 1.33
Confocal/TEM overlay microscopy: a simple method for correlating confocal and electron microscopy of cells expressing GFP/YFP fusion proteins. Microsc Microanal (2008) 1.15
Heritability of articular cartilage regeneration and its association with ear wound healing in mice. Arthritis Rheum (2012) 1.12
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. Cell Signal (2008) 1.08
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. Hum Mutat (2011) 0.93
WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan. J Biol Chem (2006) 0.92
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. Mol Cell Biochem (2009) 0.92
Fibroblast growth factor receptor 3 (FGFR3) is a strong heat shock protein 90 (Hsp90) client: implications for therapeutic manipulation. J Biol Chem (2011) 0.90
The expanded collagen VI family: new chains and new questions. Connect Tissue Res (2013) 0.87
Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function. J Biol Chem (2009) 0.84
The extracellular matrix protein WARP is a novel component of a distinct subset of basement membranes. Matrix Biol (2008) 0.84
Assessing the susceptibility of transgenic mice overexpressing deer prion protein to bovine spongiform encephalopathy. J Virol (2013) 0.80
WARP interacts with collagen VI-containing microfibrils in the pericellular matrix of human chondrocytes. PLoS One (2012) 0.80