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Disease on EC 3.1.3.56 - inositol-polyphosphate 5-phosphatase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Alzheimer Disease
INPP5D rs35349669 polymorphism with late-onset Alzheimer's disease: A replication study and meta-analysis.
Astrocytoma
Identification of novel genetic alterations in samples of malignant glioma patients.
Ataxia
Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Breast Neoplasms
Polyphenolic extract of InsP 5-ptase expressing tomato plants reduce the proliferation of MCF-7 breast cancer cells.
Carcinoma
A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh.
Frequent loss of inositol polyphosphate-5-phosphatase in oropharyngeal squamous cell carcinoma.
Prognostic Value of Inositol Polyphosphate-5-Phosphatase Expression in Recurrent and Metastatic Cutaneous Squamous Cell Carcinoma.
Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples.
Carcinoma, Squamous Cell
A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh.
Prognostic Value of Inositol Polyphosphate-5-Phosphatase Expression in Recurrent and Metastatic Cutaneous Squamous Cell Carcinoma.
Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples.
Cardiomegaly
Inpp5f Is a Polyphosphoinositide Phosphatase That Regulates Cardiac Hypertrophic Responsiveness.
Cataract
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
Ciliopathies
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Dehydration
Inositol polyphosphate 5-phosphatase-controlled Ins(1,4,5)P3/Ca2+ is crucial for maintaining pollen dormancy and regulating early germination of pollen.
Genetic Diseases, Inborn
Novel OCRL mutations in Chinese children with Lowe syndrome.
Glioblastoma
Identification of novel genetic alterations in samples of malignant glioma patients.
Glioma
Identification of novel genetic alterations in samples of malignant glioma patients.
Inositol Polyphosphate-5-Phosphatase F (INPP5F) inhibits STAT3 activity and suppresses gliomas tumorigenicity.
inositol-polyphosphate 5-phosphatase deficiency
Inositol 1,4,5-trisphosphate phosphatase deficiency and malignant hyperpyrexia in swine.
Insulin Resistance
Phosphatidylinositol 3,4,5-Trisphosphate Phosphatase SKIP Links Endoplasmic Reticulum Stress in Skeletal Muscle to Insulin Resistance.
Intellectual Disability
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
Keratosis, Actinic
Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.
Prognostic Value of Inositol Polyphosphate-5-Phosphatase Expression in Recurrent and Metastatic Cutaneous Squamous Cell Carcinoma.
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma.
Liver Neoplasms
The Prediction and Prognostic Significance of INPP5K Expression in Patients with Liver Cancer.
Microcephaly
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Microphthalmos
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Muscular Diseases
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Muscular Dystrophies
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
Bidirectional interconversion between PtdIns4P and PtdIns(4,5)P2 is required for autophagic lysosome reformation and protection from skeletal muscle disease.
Defective lysosome reformation during autophagy causes skeletal muscle disease.
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
Neoplasm Metastasis
A new gene panel as a marker for ESCC poor prognosis; INPP5A, TWIST1, MMP2, and EGFR.
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma.
Neoplasms
A new gene panel as a marker for ESCC poor prognosis; INPP5A, TWIST1, MMP2, and EGFR.
Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region.
Canine Mammary Tumours Are Affected by Frequent Copy Number Aberrations, including Amplification of MYC and Loss of PTEN.
Engineering PTEN function: Membrane association and activity.
Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.
MiR-181a-5p Promotes Proliferation and Invasion, and Inhibits Apoptosis of Cervical Cancer Cells via Regulating Inositol Polyphosphate-5-Phosphatase A (INPP5A).
MiR-661 contributed to cell proliferation of human ovarian cancer cells by repressing INPP5J expression.
Phosphorylation-mediated PTEN conformational closure and deactivation revealed with protein semisynthesis.
Prognostic Value of Inositol Polyphosphate-5-Phosphatase Expression in Recurrent and Metastatic Cutaneous Squamous Cell Carcinoma.
Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples.
SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma.
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
The Prediction and Prognostic Significance of INPP5K Expression in Patients with Liver Cancer.
The Prognostic Value of DNA Methylation, Post-Translational Modifications and Correlated with Immune Infiltrates in Gynecologic Cancers.
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma.
Neural Tube Defects
Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect.
Oculocerebrorenal Syndrome
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome.
Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
Novel OCRL mutations in Chinese children with Lowe syndrome.
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.
Ovarian Neoplasms
MiR-661 contributed to cell proliferation of human ovarian cancer cells by repressing INPP5J expression.
Parkinson Disease
Association analysis of NUCKS1 and INPP5K polymorphism with Parkinson's disease.
Parkinson's Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain.
phosphoinositide 5-phosphatase deficiency
The role of Arabidopsis 5PTase13 in root gravitropism through modulation of vesicle trafficking.
Spinocerebellar Ataxias
Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17.
Squamous Cell Carcinoma of Head and Neck
Frequent loss of inositol polyphosphate-5-phosphatase in oropharyngeal squamous cell carcinoma.
Thymoma
Hdac2 regulates the cardiac hypertrophic response by modulating Gsk3 beta activity.
Uterine Cervical Neoplasms
MiR-181a-5p Promotes Proliferation and Invasion, and Inhibits Apoptosis of Cervical Cancer Cells via Regulating Inositol Polyphosphate-5-Phosphatase A (INPP5A).