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1. Full Text Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa
by Marzuillo, P and Piccolo, V and Mascolo, M and Apicella, A and Argenziano, G and Della Vecchia, N and Guarino, S and Miraglia del Giudice, E and La Manna, A
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 08/2018, Volume 32, Issue 8, pp. e309 - e311
CYSTS | LOWE-SYNDROME | DERMATOLOGY
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2. Full Text The enemy of my enemy: PTEN and PLCXD collude to fight endosomal PtdIns(4,5)P-2
by Del Signore, SJ and Rodal, AA
JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 07/2019, Volume 218, Issue 7, pp. 2082 - 2083
Loss of the phosphoinositide 5-phosphatase OCRL causes accumulation of PtdIns(4,5)P-2 on membranes and, ultimately, Lowe syndrome. In this issue, Mondin et al.... 
LOWE SYNDROME | DOMAIN | CELL BIOLOGY
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3. Full Text OCRL controls trafficking through early endosomes via PtdIns4,5P 2-dependent regulation of endosomal actin
by Vicinanza, Mariella and Di Campli, Antonella and Polishchuk, Elena and Santoro, Michele and Di Tullio, Giuseppe and Godi, Anna and Levtchenko, Elena and De Leo, Maria Giovanna and Polishchuk, Roman and Sandoval, Lisette and Marzolo, Maria-Paz and De Matteis, Maria Antonietta
EMBO Journal, ISSN 0261-4189, 12/2011, Volume 30, Issue 24, pp. 4970 - 4985
early endosomes | Lowe syndrome | actin | megalin | phosphoinositides
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4. Full Text Epilepsy and cranial hemangioma in Lowe syndrome
by Mongardi, Lorenzo and Mantovani, Giorgio and Scerrati, Alba and De Bonis, Pasquale and Cavallo, Michele Alessandro
Acta Neurologica Belgica, ISSN 0300-9009, 2019
Lowe syndrome | Tumor | Oculocerebrorenal | Seizures
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5. Full Text Anesthetic challenges in a child with Lowe’s and Fanconi syndrome
by Chaudhari, Shital Digambar and Kaur, Manpreet
Indian Journal of Anaesthesia, ISSN 0019-5049, 11/2018, Volume 62, Issue 11, pp. 900 - 902
Occulocerebrorenal syndrome | Fanconi’s syndrome | Lowe syndrome
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6. Full Text Dynamics of phosphoinositide conversion in clathrin-mediated endocytic traffic
by He, Kangmin and Marsland, Robert and Upadhyayula, Srigokul and Song, Eli and Dang, Song and Capraro, Benjamin R and Wang, Weiming and Skillern, Wesley and Gaudin, Raphael and Ma, Minghe and Kirchhausen, Tom
Nature, ISSN 0028-0836, 12/2017, Volume 552, Issue 7685, pp. 410 - 414
Vesicular carriers transport proteins and lipids from one organelle to another, recognizing specific identifiers for the donor and acceptor membranes. Two... 
RECRUITMENT | LOWE-SYNDROME | PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE | METABOLISM | MULTIDISCIPLINARY SCIENCES | AUXILIN | MEMBRANE DYNAMICS | INHIBITOR | COATED PITS | CELL REGULATION | REVEALS | Receptor-mediated endocytosis | Phosphoinositides | Analysis
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7. Full Text Bleeding disorders in Lowe syndrome patients: Evidence for a link between OCRL mutations and primary haemostasis disorders: Short report
by Lasne, Dominique and Baujat, Geneviève and Mirault, Tristan and Lunardi, Joël and Grelac, Françoise and Egot, Marion and Salomon, Rémi and Bachelot-Loza, Christilla
British Journal of Haematology, ISSN 0007-1048, 09/2010, Volume 150, Issue 6, pp. 685 - 688
Lowe syndrome | OCRL | haemostasis disorders | platelets | RhoGAP
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8. Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome
by Zhang, Yongling and Li, Ru and Jing, Xiangyi and Tang, Xuewei and Li, Fucheng and Liao, Can
Chinese Journal of Medical Genetics, ISSN 1003-9406, 06/2019, Volume 36, Issue 6, pp. 613 - 615
Chromosomal microarray analysis | Lowe syndrome | Ocrl1 gene
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9. Full Text Syndrome de Lowe révélé par une cataracte congénitale avec anomalies cérébrales de diagnostic anténatal: à propos d'un cas
by Zéphir, P and Decramer, S and Sartor, A and Vayssière, C
Gynecologie Obstetrique et Fertilite, ISSN 1297-9589, 2014, Volume 42, Issue 5, pp. 350 - 352
Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is... 
Pregnancy | Congenital cataract | Lowe syndrome
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10. Lowe syndrome (Oculo-cerebro-renal syndrome of Lowe): A case report from Eastern India
by Das, Dipankar and Chakravarty, Shoumini and Ray, Jaydeb
Journal of Krishna Institute of Medical Sciences University, ISSN 2231-4261, 2014, Volume 3, Issue 1, pp. 107 - 111
Cataract | Lowe syndrome | OCRL
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11. Full Text Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India
by Dipankar Das and Shoumini Chakravarty and Jaydeb Ray
Journal of Krishna Institute of Medical Sciences University, ISSN 2231-4261, 01/2014, Volume 3, Issue 1, pp. 107 - 111
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It... 
Lowe syndrome; OCRL; Cataract
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12. Full Text The impact of phosphoinositide 5-phosphatases on phosphoinositides in cell function and human disease
by Ramos, Ana Raquel and Ghosh, Somadri and Erneux, Christophe
Journal of lipid research, ISSN 0022-2275, 2019, Volume 60, Issue 2, pp. 276 - 286
Phosphoinositides (PIs) are recognized as major signaling molecules in many different functions of eukaryotic cells. PIs can be dephosphorylated by multiple... 
cancer | growth factors | hormones | protein | DOMAIN | INOSITOL-POLYPHOSPHATE 5-PHOSPHATASE | PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHOSPHATASE SHIP2 | IDENTIFICATION | SYNAPTOJANIN 2 | LOWE SYNDROME | EGF RECEPTOR
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13. Očný nález u pacienta s loweovým synrómom
by Tomčíková, D and Gerinec, A and Bzdúch, V and Krásnik, V and Bušányová, B and Brennerová, K
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti, ISSN 1211-9059, 12/2018, Volume 74, Issue 3, pp. 104 - 106
nystagmus | glaucoma | oculo - cerebro - renal syndrome | Lowe syndrome | congenital cataract
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14. Fanconi Syndrome
by Foreman, John W
Pediatric Clinics of North America, ISSN 0031-3955, 02/2019, Volume 66, Issue 1, pp. 159 - 167
Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia,... 
Cystinosis | Lowe syndrome | Proximal tubule | Dent disease | Fanconi syndrome | PROTEIN | PEDIATRICS | NEPHROPATHIC CYSTINOSIS
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15. Full Text Yersinia entry into host cells requires Rab5-dependent dephosphorylation of PI(4,5)P 2 and membrane scission
by Sarantis, Helen and Balkin, Daniel M and De Camilli, Pietro and Isberg, Ralph R and Brumell, John H and Grinstein, Sergio
Cell Host and Microbe, ISSN 1931-3128, 02/2012, Volume 11, Issue 2, pp. 117 - 128
Some bacteria invade host cells by triggering a process akin to phagocytosis. We analyzed the mechanisms underlying invasion vacuole formation by the bacterium... 
BACTERIAL UPTAKE | PHAGOCYTOSIS | PROTEIN | ENDOCYTIC PATHWAY | RAB5 | PHOSPHATIDYLINOSITOL 3-KINASE | MICROBIOLOGY | PHOSPHOINOSITIDE 3-KINASE | VIROLOGY | LOWE SYNDROME | EPITHELIAL-CELLS | FISSION | PARASITOLOGY
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16. Analysis of OCRL gene mutation in a male infant with Lowe syndrome
by Chen, Suqin and Zhang, Xinyu and Chen, Laming and Tian, Qiuhong and Jiang, Weiying
Chinese Journal of Medical Genetics, ISSN 1003-9406, 04/2014, Volume 31, Issue 2, pp. 223 - 227
Lowe syndrome | OCRL gene | Mutation
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17. Full Text Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
by Chahrour, Maria H and Yu, Timothy W and Lim, Elaine T and Ataman, Bulent and Coulter, Michael E and Hill, R. Sean and Stevens, Christine R and Schubert, Christian R and Greenberg, Michael E and Gabriel, Stacey B and Walsh, Christopher A and ARRA Autism Sequencing and ARRA Autism Sequencing Collaboration
PLoS Genetics, ISSN 1553-7390, 04/2012, Volume 8, Issue 4, pp. 236 - 244
Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes.... 
LOWE-SYNDROME | MENTAL-RETARDATION | GENETICS | DISEASE | GENETICS & HEREDITY | SPECTRUM DISORDERS | LOCI | MUTATIONS | CONSANGUINITY | LINKAGE | REVEALS | Autistic Disorder - genetics | Oncogene Proteins - genetics | Humans | Exons - genetics | Genotype | Genes, Recessive | Homozygote | Adaptor Proteins, Signal Transducing - genetics | Clathrin Heavy Chains - genetics | Neurons - physiology | Transcription, Genetic | High-Throughput Nucleotide Sequencing | Neurons - metabolism | Mutation | Genome, Human | Ubiquitin-Protein Ligases - genetics | Kruppel-Like Transcription Factors - genetics | Autism | Neurons | Genomics | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Homozygosity | Health aspects | DNA sequencing | Genetics | Genes
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18. Full Text Endocytic Control of Cellular Signaling at the Primary Cilium
by Pedersen, Lotte B and Mogensen, Johanne B and Christensen, Søren T
Trends in Biochemical Sciences, ISSN 0968-0004, 09/2016, Volume 41, Issue 9, pp. 784 - 797
Primary cilia are dynamic signaling organelles that project from the cell surface to sense diverse chemical, physical and morphogenetic cues. Ciliary defects... 
cellular signaling | sonic hedgehog | TGF-β | endocytosis | clathrin | primary cilia | HEDGEHOG PATHWAY | EXCHANGE FACTOR | SYNDROME PROTEIN OCRL1 | LOWE SYNDROME | TRANSITION ZONE | CILIARY MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRAFFICKING | CILIOGENESIS | INTRAFLAGELLAR TRANSPORT | COUPLED RECEPTOR GPR161 | Hedgehog Proteins - metabolism | Endocytosis | Signal Transduction | Transforming Growth Factor beta - metabolism | Cilia - metabolism | Transforming growth factors | Bone morphogenetic proteins | G proteins
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19. Full Text Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis
by Dambournet, Daphné and MacHicoane, Mickael and Chesneau, Laurent and Sachse, Martin and Rocancourt, Murielle and El Marjou, Ahmed and Formstecher, Etienne and Salomon, Rémi and Goud, Bruno and Echard, Arnaud
Nature Cell Biology, ISSN 1465-7392, 08/2011, Volume 13, Issue 8, pp. 981 - 988
Abscission is the least understood step of cytokinesis. It consists of the final cut of the intercellular bridge connecting the sister cells at the end of... 
5-PHOSPHATASE | ACTIVATION | LOWE-SYNDROME | SYNDROME PROTEIN OCRL1 | MIDBODY | TRAFFICKING | ESCRT MACHINERY | MECHANISMS | BINDING | PHOSPHOINOSITIDES | CELL BIOLOGY | rab GTP-Binding Proteins - metabolism | Oculocerebrorenal Syndrome - genetics | Oculocerebrorenal Syndrome - pathology | RNA, Small Interfering - genetics | Phosphoric Monoester Hydrolases - genetics | Humans | Actins - metabolism | Mutant Proteins - genetics | Lipid Metabolism | Mutant Proteins - metabolism | rab GTP-Binding Proteins - genetics | Recombinant Fusion Proteins - metabolism | Cytokinesis - genetics | Phosphatidylinositol 4,5-Diphosphate - metabolism | Two-Hybrid System Techniques | Cytokinesis - physiology | Oculocerebrorenal Syndrome - metabolism | Recombinant Fusion Proteins - genetics | HeLa Cells | In Vitro Techniques | Phosphoric Monoester Hydrolases - metabolism | Physiological aspects | Lipids | Phosphatases | Research | Cytokinesis | Actin
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20. Full Text IPIP27 Coordinates PtdIns(4,5)P 2 Homeostasis for Successful Cytokinesis
by Carim, Sabrya C and Ben El Kadhi, Khaled and Yan, Guanhua and Sweeney, Sean T and Hickson, Gilles R and Carréno, Sébastien and Lowe, Martin
Current Biology, ISSN 0960-9822, 03/2019, Volume 29, Issue 5, pp. 775 - 789.e7
During cytokinesis, an actomyosin contractile ring drives the separation of the two daughter cells. A key molecule in this process is the inositol lipid... 
actin | endosome | PtdIns(4,5)P | cytokinesis | BAR domain protein | IPIP27 | OCRL | SH3PX1 | phosphoinositide | ENDOSOMES | LOWE-SYNDROME | CELL CORTEX | PROTEIN | ACTIN POLYMERIZATION | ANILLIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | RAB35 GTPASE | MEMBRANE-TRAFFICKING | CLEAVAGE FURROW | CELL BIOLOGY
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