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1. Full Text Loss of OCRL increases ciliary PI(4,5)P 2 in Lowe oculocerebrorenal syndrome
by Prosseda, Philipp P and Luo, Na and Wang, Biao and Alvarado, Jorge A and Hu, Yang and Sun, Yang
Journal of cell science, ISSN 0021-9533, 2017, Volume 130, Issue 20, pp. 3447 - 3454
Lowe syndrome | Sonic hedgehog | Phosphoinositide | OCRL | Primary cilia | PI(4,5)P | Life Sciences & Biomedicine | Science & Technology | Cell Biology
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2. Full Text On the Origin of Urinary Renin A Translational Approach
by Roksnoer, Lodi C. W and Heijnen, Bart F. J and Nakano, Daisuke and Peti-Peterdi, Janos and Walsh, Stephen B and Garrelds, Ingrid M and van Gool, Jeanette M. G and Zietse, Robert and Struyker Boudier, H and Hoorn, Ewout J and Danser, A. H. Jan
Hypertension (Dallas, Tex. 1979), ISSN 0194-911X, 05/2016, Volume 67, Issue 5, pp. 927 - 933
glomerular filtration barrier | Dent disease | renin | Lowe syndrome | angiotensinogen
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3. Full Text Novel mutation in OCRL leading to a severe form of Lowe syndrome
by Zhou, Feng-Qi and Wang, Qi-Wei and Liu, Zhen-Zhen and Zhang, Xu-Lin and Wang, Dong-Ni and Dongye, Mei-Mei and Lin, Hao-Tian and Chen, Wei-Rong
International journal of ophthalmology, ISSN 2222-3959, 07/2019, Volume 12, Issue 7, pp. 1057 - 1060
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | lowe syndrome | oculocerebrorenal syndrome | ocrl | congenital membranous cataract
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4. 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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5. Full Text Epidermoid cysts – a wide spectrum of clinical presentation and successful treatment by surgery: A retrospective 10-year analysis and literature review
by Wollina, Uwe and Langner, Dana and Tchernev, Georgi and França, Katlein and Lotti, Torello
Open access Macedonian journal of medical sciences, ISSN 1857-9655, 01/2018, Volume 6, Issue 1, pp. 28 - 30
Lowe syndrome | Gardner syndrome | Epidermoid cysts | Skin | Pathogenesis | Surgery
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6. 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
The 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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7. Full Text Long-term renal outcome in children with OCRL mutations: Retrospective analysis of a large international cohort
by Zaniew, Marcin and Bökenkamp, Arend and Kołbuc, Marcin and la Scola, Claudio and Baronio, Federico and Niemirska, Anna and Szczepańska, Maria and Bürger, Julia and la Manna, Angela and Miklaszewska, Monika and Rogowska-Kalisz, Anna and Gellermann, Jutta and Zampetoglou, Argyroula and Wasilewska, Anna and Roszak, Magdalena and Moczko, Jerzy and Krzemień, Aleksana and Runowski, Dariusz and Siteń, Grzegorz and Załuska-Leśniewska, Iga and Fonduli, Patrizia and Zurrida, Franca and Paglialonga, Fabio and Gucev, Zoran and Paripovic, Dusan and Rus, Rina and Said-Conti, Valerie and Sartz, Lisa and Chung, Woo Yeong and Park, Se Jin and Lee, Jung Won and Park, Yong Hoon and Ahn, Yo Han and Sikora, Przemysław and Stefanidis, Constantinos J and Tasic, Velibor and Konrad, Martin and Anglani, Franca and Addis, Maria and Cheong, Hae Il and Ludwig, Michael and Bockenhauer, Detlef
Nephrology, dialysis, transplantation, ISSN 0931-0509, 2018, Volume 33, Issue 1, pp. 85 - 94
d_article_not_yet_freely_accessible | Lowe syndrome | Nephrocalcinosis | Chronic kidney disease | OCRL | Dent-2 disease | Transplantation | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Klinisk medicin
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8. Full Text Receptor-Mediated Endocytosis in the Proximal Tubule
by Eshbach, Megan L and Weisz, Ora A
Annual review of physiology, ISSN 0066-4278, 2/2017, Volume 79, Issue 1, pp. 425 - 448
kidney | cystinosis | Dent disease | apical | megalin | proteinuria | albumin | Lowe syndrome | cubilin | Cystinosis | Apical | Cubilin | Albumin | Megalin | Kidney | Proteinuria | Animals | Humans | Kidney Tubules, Proximal - metabolism | Kidney Glomerulus - metabolism | Proteinuria - metabolism | Receptors, Cell Surface - metabolism | Kidney Glomerulus - physiology | Kidney Tubules, Proximal - physiology | Endocytosis - physiology | Proteinuria - physiopathology | Physiological aspects | Care and treatment | Properties | Microtubules | Proteins | Molecules | Endocytosis | Cells | Molecular weight | Index Medicus
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9. Fanconi Syndrome
by Foreman, John W
The Pediatric clinics of North America, ISSN 0031-3955, 02/2019, Volume 66, Issue 1, pp. 159 - 167
Cystinosis | Lowe syndrome | Proximal tubule | Dent disease | Fanconi syndrome | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Fanconi Syndrome - diagnosis | Diagnosis, Differential | Child | Fanconi Syndrome - therapy | Humans
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10. Full Text From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes
by Hichri, Haifa and Rendu, John and Monnier, Nicole and Coutton, Charles and Dorseuil, Olivier and Poussou, Rosa Vargas and Baujat, Geneviève and Blanchard, Anne and Nobili, François and Ranchin, Bruno and Remesy, Michel and Salomon, Rémi and Satre, Véronique and Lunardi, Joel
Human mutation, ISSN 1059-7794, 04/2011, Volume 32, Issue 4, pp. 379 - 388
Lowe syndrome | phosphatidylinositol 4, 5 biphosphate homeostasis | OCRL1 | Dent 2 disease | Phosphatidylinositol 4, 5 biphosphate homeostasis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Oculocerebrorenal Syndrome - genetics | Phenotype | Phosphoric Monoester Hydrolases - genetics | DNA Mutational Analysis | Dent Disease - genetics | Humans | Male | Chloride Channels - genetics | Mutation | RNA, Messenger - metabolism | Index Medicus
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11. Full Text Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase
by Yamamoto, Katsusuke and Hasegawa, Yasuhiro and Ohata, Yasuhisa and Satomura, Kenichi and Mizoguchi, Yoshimi and Shimotsuji, Tsunesuke and Yamamoto, Takehisa
CEN case reports, ISSN 2192-4449, 05/2020, Volume 9, Issue 2, pp. 95 - 100
Index Medicus
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12. Full Text Decreased renal uptake of 99mTc-DMSA in patients with tubular proteinuria
by Lee, Beom Hee and Lee, So Hee and Choi, Hyun Jin and Kang, Hee Gyung and Oh, So Won and Lee, Dong Soo and Ha, Il Soo and Choi, Yong and Cheong, Hae I.I
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 2009, Volume 24, Issue 11, pp. 2211 - 2216
Lowe syndrome | Dimercaptosuccinicacid | Tubular proteinuria | Dentdisease | Megalin | Cubilin
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