Works matching DE "LOWE'S syndrome"

Results: 79

Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome.

Published in:

2004

By:

Saricaoglu, F.;
Demirtas, F.;
Aypar, U.

Publication type:

Letter

Oculo-Cerebro-Renal Syndrome.

Published in:

Clinical Pediatrics, 1972, v. 11, n. 2, p. 119, doi. 10.1177/000992287201100223

By:

Holmes, Grace E.;
Tucker, Virginia

Publication type:

Article

Combined PI3K Inhibitor and Eribulin Enhances Anti-Tumor Activity in Preclinical Models of Paclitaxel-Resistant, PIK3CA-Mutated Endometrial Cancer.

Published in:

Cancers, 2023, v. 15, n. 19, p. 4887, doi. 10.3390/cancers15194887

By:

Jeong, Yeong Gyu;
Katuwal, Nar Bahadur;
Kang, Min Sil;
Ghosh, Mithun;
Hong, Sa Deok;
Park, Seong Min;
Kim, Seul-Gi;
Kim, Tae Hoen;
Moon, Yong Wha

Publication type:

Article

The Ginsenoside Compound K Suppresses Stem-Cell-like Properties and Colorectal Cancer Metastasis by Targeting Hypoxia-Driven Nur77-Akt Feed-Forward Signaling.

Published in:

Cancers, 2023, v. 15, n. 1, p. 24, doi. 10.3390/cancers15010024

By:

Zhang, Minda;
Shi, Zeyu;
Zhang, Shuaishuai;
Li, Xudan;
To, Sally Kit Yan;
Peng, Yijia;
Liu, Jie;
Chen, Siming;
Hu, Hongyu;
Wong, Alice Sze Tsai;
Zeng, Jin-Zhang

Publication type:

Article

Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome.

Published in:

Small GTPases, 2012, v. 3, n. 2, p. 107, doi. 10.4161/sgtp.19380

By:

Hagemann, Nina;
Hou, Xiaomin;
Goody, Roger S.;
Itzen, Aymelt;
Erdmann, Kai S.

Publication type:

Article

Successful intubation in a child with Lowe syndrome using fiberscope and Glidescope.

Published in:

2012

By:

Kapoor, Dheeraj;
Ahuja, Nitin;
Srivastava, Meghana

Publication type:

Case Study

Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 1, p. 93, doi. 10.1177/0883073808321047

By:

Yuksel, Adnan;
Karaca, Ender;
Albayram, M. Sait

Publication type:

Article

Different Seizure Types and Skin Lesions in Oculocerebrorenal Syndrome of Lowe.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 4, p. 427

By:

Erdoğan, Füsun;
İsmailoğulIarı, Sevda;
Soyuer, Işın;
Ferahbaş, Ayten;
Poyrazoğlu, Hakan

Publication type:

Article

A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.

Published in:

EMBO Journal, 2009, v. 28, n. 13, p. 1831, doi. 10.1038/emboj.2009.155

By:

Yuxin Mao;
Balkin, Daniel M.;
Zoncu, Roberto;
Erdmann, Kai S.;
Tomasini, Livia;
Fenghua Hu;
Jin, Moonsoo M.;
Hodsdon, Michael E.;
De Camilli, Pietro

Publication type:

Article

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.

Published in:

EMBO Journal, 2006, v. 25, n. 16, p. 3750, doi. 10.1038/sj.emboj.7601274

By:

Hyvola, Noora;
Diao, Aipo;
McKenzie, Eddie;
Skippen, Alison;
Cockcroft, Shamshad;
Lowe, Martin

Publication type:

Article

Gambogenic acid alters chemosensitivity of breast cancer cells to Adriamycin.

Published in:

BMC Complementary & Alternative Medicine, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12906-015-0710-8

By:

Ye He;
Jie Ding;
Yan Lin;
Juan Li;
Yongguo Shi;
Juan Wang;
Ya Zhu;
Keming Wang;
Xuezhen Hu

Publication type:

Article

Effects of rhodiola crenulata on mice hearts under severe sleep apnea.

Published in:

BMC Complementary & Alternative Medicine, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12906-015-0698-0

By:

Mei-Chih Lai;
Jaung-Geng Lin;
Pei-Ying Pai;
Mei-Hsin Lai;
Yueh-Min Lin;
Yu-Lan Yeh;
Shiu-Min Cheng;
Yi-fan Liu;
Chih-Yang Huang;
Shin-Da Lee

Publication type:

Article

The role of the Lowe syndrome protein OCRL in the endocytic pathway.

Published in:

Biological Chemistry, 2015, v. 396, n. 12, p. 1293, doi. 10.1515/hsz-2015-0180

By:

Sharma, Shruti;
Skowronek, Agnieszka;
Erdmann, Kai Sven

Publication type:

Article

Recognition of the F&H motif by the Lowe syndrome protein OCRL.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 789, doi. 10.1038/nsmb.2071

By:

Pirruccello, Michelle;
Swan, Laura E;
Folta-Stogniew, Ewa;
De Camilli, Pietro

Publication type:

Article

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.

Published in:

Nephrology Dialysis Transplantation, 2018, v. 33, n. 1, p. 85, doi. 10.1093/ndt/gfw350

By:

Zaniew, Marcin;
Bökenkamp, Arend;
Kolbuc, Marcin;
La Scola, Claudio;
Baronio, Federico;
Niemirska, Anna;
Szczepańska, Maria;
Bürger, Julia;
La Manna, Angela;
Miklaszewska, Monika;
Rogowska-Kalisz, Anna;
Gellermann, Jutta;
Zampetoglou, Argyroula;
Wasilewska, Anna;
Roszak, Magdalena;
Moczko, Jerzy;
Krzemień, Aleksandra;
Runowski, Dariusz;
Siteń, Grzegorz;
Zaluska-Leśniewska, Iga

Publication type:

Article

Renal Fanconi syndrome: taking a proximal look at the nephron.

Published in:

Nephrology Dialysis Transplantation, 2015, v. 30, n. 9, p. 1456, doi. 10.1093/ndt/gfu377

By:

Klootwijk, Enriko D.;
Reichold, Markus;
Unwin, Robert J.;
Kleta, Robert;
Warth, Richard;
Bockenhauer, Detlef

Publication type:

Article

Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis.

Published in:

Nature Cell Biology, 2011, v. 13, n. 8, p. 981, doi. 10.1038/ncb2279

By:

Dambournet, Daphné;
Machicoane, Mickael;
Chesneau, Laurent;
Sachse, Martin;
Rocancourt, Murielle;
El Marjou, Ahmed;
Formstecher, Etienne;
Salomon, Rémi;
Goud, Bruno;
Echard, Arnaud

Publication type:

Article

A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome.

Published in:

Tohoku Journal of Experimental Medicine, 2014, v. 232, n. 3, p. 163, doi. 10.1620/tjem.232.163

By:

Keisuke Sugimoto;
Hitomi Nishi;
Tomoki Miyazawa;
Shinsuke Fujita;
Mitsuru Okada;
Tsukasa Takemura

Publication type:

Article

CYTOSKELETAL REGULATION: RICH IN LIPIDS.

Published in:

Nature Reviews Molecular Cell Biology, 2004, v. 5, n. 8, p. 658, doi. 10.1038/nrm1434

By:

Janmey, Paul A.;
Lindberg, Uno

Publication type:

Article

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.

Published in:

Human Genetics, 2011, v. 129, n. 5, p. 513, doi. 10.1007/s00439-010-0944-y

By:

Draaken, Markus;
Giesen, Carmen A.;
Kesselheim, Anne L.;
Jabs, Ronald;
Aretz, Stefan;
Kugaudo, Monika;
Chrzanowska, Krystyna H.;
Krajewska-Walasek, Malgorzata;
Ludwig, Michael

Publication type:

Article

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 8, p. 2377, doi. 10.1007/s00467-024-06356-y

By:

Du, Rong;
Zhou, Chengcheng;
Chen, Shehong;
Li, Tong;
Lin, Yunting;
Xu, Aijing;
Huang, Yonglan;
Mei, Huifen;
Huang, Xiaoli;
Tan, Dongdong;
Zheng, Ruidan;
Liang, Cuili;
Cai, Yanna;
Shao, Yongxian;
Zhang, Wen;
Liu, Li;
Zeng, Chunhua

Publication type:

Article

An uncommon cause of hypophosphatemic rickets: Answers.

Published in:

Pediatric Nephrology, 2023, v. 38, n. 8, p. 2613, doi. 10.1007/s00467-023-05952-8

By:

Koyun, Mustafa;
Ertosun, Mustafa Gökhan;
Aksoy, Gülşah Kaya;
Çomak, Elif;
Akman, Sema

Publication type:

Article

Correction to: Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.

Published in:

2022

By:

Suruda, Chikushi;
Tsuji, Shoji;
Yamanouchi, Sohsaku;
Kimata, Takahisa;
Huan, Nguyen Thanh;
Kurosawa, Hiroyuki;
Hirayama, Yoshiaki;
Tsukaguchi, Hiroyasu;
Saito, Akihiko;
Kaneko, Kazunari

Publication type:

Correction Notice

A role for OCRL in glomerular function and disease.

Published in:

Pediatric Nephrology, 2020, v. 35, n. 4, p. 641, doi. 10.1007/s00467-019-04317-4

By:

Preston, Rebecca;
Naylor, Richard W;
Stewart, Graham;
Bierzynska, Agnieszka;
Saleem, Moin A;
Lowe, Martin;
Lennon, Rachel

Publication type:

Article

Clinical-embryological and radiological correlations of oculo-auriculo-vertebral spectrum using 3D-CT.

Published in:

Dentomaxillofacial Radiology, 2003, v. 32, n. 1, p. 8, doi. 10.1259/dmfr/36409607

By:

Santos, D.T.;
Miyazaki, O.;
Cavalcanti, M.G.P.

Publication type:

Article

Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2024, v. 99, n. 1, p. 89, doi. 10.5114/polp.2024.135847

By:

Strzoda, Adam Jan;
Sobieszczańska-Droździel, Aleksandra;
Kamińska, Magdalena

Publication type:

Article

Retinal function and morphology in two zebrafish models of oculo-renal syndromes.

Published in:

European Journal of Neuroscience, 2003, v. 18, n. 6, p. 1377, doi. 10.1046/j.1460-9568.2003.02863.x

By:

Bahadori, Ronja;
Huber, Matthias;
Rinner, Oliver;
Seeliger, Mathias W.;
Geiger‐Rudolph, Silke;
Geisler, Robert;
Neuhauss, Stephan C.F.

Publication type:

Article

Infantile Glaucoma. . .and Discoid Cataracts.

Published in:

2014

By:

Wang, Runci

Publication type:

Test/Instrument

Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.

Published in:

1997

By:

Asami, T;
Inano, K;
Miida, T;
Kikuchi, T;
Uchiyama, M

Publication type:

journal article

Pathologic and Molecular Features of Perihilar Cholangiocarcinoma Based on U-P Point Division.

Published in:

Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 5, p. 439, doi. 10.5858/arpa.2023-0547-OA

By:

Ying Xiao;
Qijia Zhang;
Canhong Xiang;
Jianghui Yang;
Bowen Li;
Hongfang Yin

Publication type:

Article

Eruptive Vellus Hair Cysts in a Patient with Lowe Syndrome.

Published in:

Pediatric Dermatology, 2004, v. 21, n. 1, p. 54, doi. 10.1111/j.0736-8046.2004.21112.x

By:

Nandedkar, Maithily A.;
Minus, Harold;
Nandedkar, Meenakshi A.

Publication type:

Article

Cell Membrane Fatty Acids and PIPs Modulate the Etiology of Pancreatic Cancer by Regulating AKT.

Published in:

Nutrients, 2025, v. 17, n. 1, p. 150, doi. 10.3390/nu17010150

By:

Torres, Carolina;
Mancinelli, Georgina;
Chen, Jee-Wei Emily;
Cordoba-Chacon, Jose;
Pins, Danielle;
Saeed, Sara;
McKinney, Ronald;
Castellanos, Karla;
Orsi, Giulia;
Singhal, Megha;
Patel, Akshar;
Acebedo, Jose;
Coleman, Adonis;
Heneche, Jorge;
Yalagala, Poorna Chandra Rao;
Subbaiah, Papasani V.;
Leal, Cecilia;
Grimaldo, Sam;
Ortuno, Francisco M.;
Bishehsari, Faraz

Publication type:

Article

A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome.

Published in:

2011

By:

Şimşek, Enver;
Şimşek, Tülay;
Dallar, Yıldız;
Can, Önder;
Willems, Patrick J.

Publication type:

Case Study

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

Published in:

2017

By:

Perez, Yonatan;
Shorer, Zamir;
Liani-Leibson, Keren;
Chabosseau, Pauline;
Kadir, Rotem;
Volodarsky, Michael;
Halperin, Daniel;
Barber-Zucker, Shiran;
Shalev, Hanna;
Schreiber, Ruth;
Gradstein, Libe;
Gurevich, Evgenia;
Zarivach, Raz;
Rutter, Guy A.;
Landau, Daniel;
Birk, Ohad S.

Publication type:

journal article

dOCRL maintains immune cell quiescence by regulating endosomal traffic.

Published in:

PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1007052

By:

Del Signore, Steven J.;
Biber, Sarah A.;
Lehmann, Katherine S.;
Heimler, Stephanie R.;
Rosenfeld, Benjamin H.;
Eskin, Tania L.;
Sweeney, Sean T.;
Rodal, Avital A.

Publication type:

Article

Prenatal detection of congenital cataract in a fetus with Lowe syndrome.

Published in:

2010

By:

Daskalakis, G.;
Anastasakis, E.;
Lyberopoulos, E.;
Antsaklis, A.

Publication type:

journal article

Phospholipase C-related catalytically inactive protein regulates cytokinesis by protecting phosphatidylinositol 4,5-bisphosphate from metabolism in the cleavage furrow.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49156-3

By:

Asano, Satoshi;
Ikura, Yasuka;
Nishimoto, Mitsuki;
Yamawaki, Yosuke;
Hamao, Kozue;
Kamijo, Keiju;
Hirata, Masato;
Kanematsu, Takashi

Publication type:

Article

Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India.

Published in:

2014

By:

Das, Dipankar;
Chakravarty, Shoumini;
Ray, Jaydeb

Publication type:

Case Study

Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome.

Published in:

Clinical Kidney Journal, 2015, v. 8, n. 4, p. 459, doi. 10.1093/ckj/sfv048

By:

Butani, Lavjay

Publication type:

Article

Oculo-auriculo-vertebral spectrum.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 1, p. 17, doi. 10.1177/014556139807700105

By:

Schaefer, G. Bradley;
Olney, Ann Haskins;
Kolodziej, Peg

Publication type:

Article

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.

Published in:

Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0227-3

By:

Barnes, Jesse;
Salas, Franklin;
Mokhtari, Ryan;
Dolstra, Hedwig;
Pedrosa, Erika;
Lachman, Herbert M.

Publication type:

Article

Kidney-differentiated cells derived from Lowe Syndrome patient’s iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192635

By:

Hsieh, Wen-Chieh;
Ramadesikan, Swetha;
Fekete, Donna;
Aguilar, Ruben Claudio

Publication type:

Article

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 11, p. 1030, doi. 10.1007/s10038-006-0049-6

By:

Cau, Milena;
Addis, Maria;
Congiu, Rita;
Meloni, Cristiana;
Cao, Antonio;
Santaniello, Simona;
Loi, Mario;
Emma, Francesco;
Zuffardi, Orsetta;
Ciccone, Roberto;
Sole, Gabriella;
Melis, Maria

Publication type:

Article

Poster 332: Surface Electromyography‐assisted Motor Learning in an 18‐Month‐Old Child With Lowe Syndrome: A Case Report.

Published in:

2010

By:

Bolek, Jeffrey E.;
Henry, Douglas E.;
Pace, AnnMarie

Publication type:

Abstract

Corneal Keloid in Lowe Syndrome.

Published in:

2005

By:

Esquenazi, Salomon;
Eustis, H. Sprague;
Bazan, Haydee E. P.;
Leon, Alejandro;
Jiucheng He

Publication type:

Case Study

Poor Tc-99m dimercaptosuccinic acid uptake, re-evaluation with Tc-99m MAG3 scintigraphy in Lowe syndrome.

Published in:

Indian Journal of Nuclear Medicine, 2011, v. 26, n. 4, p. 185, doi. 10.4103/0972-3919.106701

By:

Koca, Gokhan;
Atilgan, Hasan Ikbal;
Demirel, Koray;
Diri, Akif;
Korkmaz, Meliha

Publication type:

Article

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

Published in:

British Journal of Haematology, 2010, v. 150, n. 6, p. 685, doi. 10.1111/j.1365-2141.2010.08304.x

By:

Lasne, Dominique;
Baujat, Geneviève;
Mirault, Tristan;
Lunardi, Joël;
Grelac, Françoise;
Egot, Marion;
Salomon, Rémi;
Bachelot-Loza, Christilla

Publication type:

Article

Nonfunction of the ECT2 gene may cause renal tubulointerstitial injury leading to focal segmental glomerulosclerosis.

Published in:

Clinical & Experimental Nephrology, 2012, v. 16, n. 6, p. 875, doi. 10.1007/s10157-012-0636-0

By:

Izu, Akane;
Sugimoto, Keisuke;
Fujita, Shinsuke;
Nishi, Hitomi;
Takemura, Yutaka;
Okada, Mitsuru;
Takemura, Tsukasa

Publication type:

Article

Antenatal diagnosis of Lowe syndrome.

Published in:

2010

By:

Sethi, Sidharth Kumar;
Lunardi, Joel;
Kabra, Madhulika;
Deka, Deepika;
Bagga, Arvind

Publication type:

Letter

Mutations in OCRL1 gene in Indian children with Lowe syndrome.

Published in:

Clinical & Experimental Nephrology, 2008, v. 12, n. 5, p. 358, doi. 10.1007/s10157-008-0059-0

By:

Sethi, Sidharth;
Bagga, Arvind;
Gulati, Ashima;
Hari, Pankaj;
Gupta, Neerja;
Lunardi, Joel

Publication type:

Article