Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
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ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XIILethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathwayMutations in mRNA export mediator GLE1 result in a fetal motoneuron diseasePhosphoinositides: tiny lipids with giant impact on cell regulationMutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesCrystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate SpecificityPhosphatidylinositol-4-phosphate 5-kinases and phosphatidylinositol 4,5-bisphosphate synthesis in the brainMutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentIn silico identification of a core regulatory network of OCT4 in human embryonic stem cells using an integrated approach.Phosphatidylinositol 4,5-bisphosphate: targeted production and signalingPelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?Mutations in phosphoinositide metabolizing enzymes and human disease.Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis.RNA processing defects associated with diseases of the motor neuronMechanism of substrate specificity of phosphatidylinositol phosphate kinases.Clathrin regulates the association of PIPKIgamma661 with the AP-2 adaptor beta2 appendage.The Hidden Conundrum of Phosphoinositide Signaling in CancerIdentification of cellular proteins that interact with human cytomegalovirus immediate-early protein 1 by protein array assay.Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.Phosphatidylinositol 4-kinases and PI4P metabolism in the nervous system: roles in psychiatric and neurological diseases.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.The lipid kinase PIP5K1C regulates pain signaling and sensitizationmRNA nuclear export and human diseaseAutosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.[EXPRESS] Conditional deletion of Pip5k1c in sensory ganglia and effects on nociception and inflammatory sensitization.
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P2860
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
description
2007 nî lūn-bûn
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
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2007年论文
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name
Lethal contractural syndrome t ...... he phophatidylinsitol pathway.
@ast
Lethal contractural syndrome t ...... he phophatidylinsitol pathway.
@en
type
label
Lethal contractural syndrome t ...... he phophatidylinsitol pathway.
@ast
Lethal contractural syndrome t ...... he phophatidylinsitol pathway.
@en
prefLabel
Lethal contractural syndrome t ...... he phophatidylinsitol pathway.
@ast
Lethal contractural syndrome t ...... he phophatidylinsitol pathway.
@en
P2093
P2860
P356
P1476
Lethal contractural syndrome t ...... he phophatidylinsitol pathway.
@en
P2093
Daniella Landau
Esther Manor
Ginat Narkis
Khalil Elbedour
Micha Volokita
Relly Hershkowitz
Rivka Ofir
P2860
P304
P356
10.1086/520771
P407
P50
P577
2007-07-24T00:00:00Z