المؤلفون: Tran, Matthew^{Aff4, Aff5}, Young, Matthew^Aff4, Liu, Timing^Aff6, Sun, Yang^{Aff7, Aff8}

المساهمون: Singh, Arun D., Series Editor^Aff1, Prakash, Gyan, editor^Aff2, Iwata, Takeshi, editor^Aff3

المصدر: Advances in Vision Research, Volume IV : From Basic to Translational Research — Developing Diagnostics and Therapeutics for Genetic Eye Diseases. :109-116

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المؤلفون: Risky Vitria Prasetyo, Heru Setiawan, Ninik Asmaningsih Soemyarso, Mohammad Sjaifullah Noer, Irwanto Irwanto, Prastiya Indra Gunawan, Rozalina Loebis, Sri Andreani Utomo, Ni Wayan Tirthaningsih

المصدر: Paediatrica Indonesiana, Vol 55, Iss 3, Pp 176-84 (2015)

مصطلحات موضوعية: Lowe syndrome, oculocerebrorenal syndrome of Lowe, OCRL, multisystem disorder, anomalies, eyes, nervous system, kidneys, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/59; https://doaj.org/toc/0030-9311; https://doaj.org/toc/2338-476X

URL الوصول: https://doaj.org/article/a13435f171d9497fa04f4a84ec16fddb

المؤلفون: Recker, Florian, Zaniew, Marcin, Böckenhauer, Detlef, Miglietti, Nunzia, Bökenkamp, Arend, Moczulska, Anna, Rogowska-Kalisz, Anna, Laube, Guido, Said-Conti, Valerie, Kasap-Demir, Belde, Niemirska, Anna, Litwin, Mieczysław, Siteń, Grzegorz, Chrzanowska, Krystyna H., Krajewska-Walasek, Małgorzata, Sethi, Sidharth K., Tasic, Velibor, Anglani, Franca, Addis, Maria, Wasilewska, Anna, Szczepańska, Maria, Pawlaczyk, Krzysztof, Sikora, Przemysław, Ludwig, Michael

المصدر: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. June 2015 30(6):931-943

المؤلفون: Raju V. S. Rajala

المصدر: Journal of Lipid Research, Vol 62, Iss, Pp 100041-(2021)
Journal of Lipid Research

مصطلحات موضوعية: 0301 basic medicine, PI(3,4) P2, phosphatidylinositol 3,4-bisphosphate, IGF, insulin-like growth factor, PIKfyve, FYVE-type zinc finger containing phosphoinositide kinase, 030204 cardiovascular system & hematology, Phosphatidylinositols, Biochemistry, PDGF, platelet-derived growth factor, chemistry.chemical_compound, PTP1B, protein tyrosine phosphatase 1B, 0302 clinical medicine, Endocrinology, SHIP, Src homology 2 domain-containing inositol polyphosphate 5-phosphatase, phosphoinositide binding proteins, PI(4,5)P2, phosphatidylinositol 4,5-bisphosphate, biology, Grb14, growth factor receptor-bound protein 14, phosphoinositide kinases, PI(5)P, phosphatidylinositol 5-phosphate, PIPK, phosphatidylinositol phosphate kinase, PITP, phosphatidylinositol transfer protein, Cell biology, Pleckstrin homology domain, PI4K, phosphatidylinositol 4-kinase, OCRL, oculocerebrorenal syndrome of Lowe, Phosphatidylinositol 4,5-bisphosphate, PI(3)P, phosphatidylinositol 3-phosphate, IR, insulin receptor, PI(3,5)P2, phosphatidylinositol 3,5-bisphosphate, VDAC, voltage-dependent anion channel, IRS, insulin receptor substrate, lipids (amino acids, peptides, and proteins), PIP, phosphatidylinositol phosphate, IP3, inositol triphosphate, light activation, PI3K, phosphoinositide 3-kinase, SH2, Src homology 2, CNTF, ciliary neurotrophic factor, TRP, transient receptor potential, Thematic Review Series: Seeing 2020: Lipids and Lipid-Soluble Molecules in the Eye, musculoskeletal diseases, Phosphatidylinositol 3,5-bisphosphate, RPE, retinal pigment epithelium, CNGA1, cyclic nucleotidegated channel subunit α1, PH, pleckstrin homology, Vps, vacuolar protein sorting, mTOR, mammalian target of rapamycin, QD415-436, PI, phosphatidylinositol, Phosphoinositide Phosphatases, INPP5, inositol polyphosphate 5-phosphatase, 03 medical and health sciences, FYCO1, FYVE and coiled-coil domain autophagy adaptor 1, PLC, phospholipase C, GSK3β, glycogen synthase kinase 3β, PKC, protein kinase C, ROS, rod outer segment, Phosphatidylinositol 5-phosphate, GPCR, G protein-coupled receptor, CNG, cyclic nucleotide-gated, Phosphoinositide 3-kinase, Phosphatidylinositol (3,4,5)-trisphosphate, Phosphatidylinositol 3-phosphate, fungi, PI(4)P, phosphatidylinositol 4-phosphate, Thematic Review Series, phosphoinositide phosphatases, Cell Biology, PTEN, phosphatase and tensin homolog, PI(3,4,5)P2, phosphatidylinositol 3,4,5-trisphosphate, body regions, 030104 developmental biology, chemistry, biology.protein, EPO, erythropoietin, RA, Ras-associating

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad76a0de070275a6dd0bb666e2b0f8c
http://www.sciencedirect.com/science/article/pii/S0022227521000213

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المؤلفون: Martin Lowe, Zenobia B. Mehta, Grzegorz Pietka

المصدر: Traffic (Copenhagen, Denmark)

مصطلحات موضوعية: Cell physiology, Oculocerebrorenal syndrome, Disease, Review, medicine.disease_cause, Nephrolithiasis, Phosphatidylinositols, Biochemistry, Structural Biology, Ciliogenesis, Genetics, medicine, oculocerebrorenal syndrome of Lowe, Animals, Humans, endocytosis, Molecular Biology, Zebrafish, OCRL1, Dent disease, Mutation, biology, phagocytosis, Genetic Diseases, X-Linked, inositol 5-phosphatase, Cell Biology, medicine.disease, biology.organism_classification, Actin cytoskeleton, zebrafish, Phosphoric Monoester Hydrolases, 3. Good health, Cell biology, phosphoinositide, Oculocerebrorenal Syndrome, OCRL, actin, ciliogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c88dc4a911c182cad07785f0c6bbd61
https://pubmed.ncbi.nlm.nih.gov/24499450

المؤلفون: Heather J. McCrea, Summer Paradise, Pietro De Camilli, Maria Antonietta De Matteis, Livia Tomasini, Maria Antonietta Melis, Maria Addis

المساهمون: Mccrea, Heather J., Paradise, Summer, Tomasini, Livia, Addis, Maria, Melis, Maria Antonietta, DE MATTEIS, Maria Antonietta, De Camilli, Pietro

مصطلحات موضوعية: GTPase-activating protein, Endosome, Oculocerebrorenal syndrome, Endocytic cycle, Biophysics, Dent Disease, Cercopithecus aethiop, Biology, Phosphoric Monoester Hydrolase, medicine.disease_cause, Biochemistry, Article, Rab5, COS Cell, Chlorocebus aethiops, medicine, Animals, Humans, APPL1, Oculocerebrorenal Syndrome of Lowe, Molecular Biology, Adaptor Proteins, Signal Transducing, GRB2 Adaptor Protein, Genetics, Mutation, OCRL, Binding Sites, Animal, GTPase-Activating Protein, GTPase-Activating Proteins, Binding Site, Signal transducing adaptor protein, Cell Biology, medicine.disease, Phosphoric Monoester Hydrolases, Protein Structure, Tertiary, Oculocerebrorenal Syndrome, Biophysic, COS Cells, Lowe Syndrome, Carrier Proteins, Carrier Protein, Human, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c61a10095811b8e6414e25512a31035
http://hdl.handle.net/11588/662660

المؤلفون: Prastiya Indra Gunawan, Sri Andreani Utomo, Heru Setiawan, Risky Vitria Prasetyo, Ninik Asmaningsih Soemyarso, Rozalina Loebis, Irwanto Irwanto, Mohammad Sjaifullah Noer, Ni Wayan Tirthaningsih

المصدر: Paediatrica Indonesiana, Vol 55, Iss 3, Pp 176-84 (2015)

مصطلحات موضوعية: kidneys, Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Oculocerebrorenal syndrome, Population, lcsh:Medicine, oculocerebrorenal syndrome of Lowe, Medicine, Girl, education, media_common, OCRL, education.field_of_study, business.industry, nervous system, lcsh:R, lcsh:RJ1-570, lcsh:Pediatrics, eyes, medicine.disease, Lowe syndrome, Pediatrics, Perinatology and Child Health, Renal Fanconi Syndrome, anomalies, multisystem disorder, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7033c64fa9de8a27107b3a35689dd6fe
https://doi.org/10.14238/pi55.3.2015.176-84