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

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

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

Dent disease presenting as partial Fanconi syndrome and hypercalciuria.

Published in:

2008

By:

Hodgin, J. B.;
Corey, H. E.;
Kaplan, B. S.;
D'Agati, V. D.

Publication type:

Case Study

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

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.

Published in:

Mammalian Genome, 2010, v. 21, n. 9/10, p. 458, doi. 10.1007/s00335-010-9281-7

By:

Bothwell, Susan P.;
Farber, Leslie W.;
Hoagland, Adam;
Nussbaum, Robert L.

Publication type:

Article

X-inactivation analysis of embryonic lethality in Ocrl<sup> wt/−</sup>; Inpp5b<sup>−/−</sup> mice.

Published in:

Mammalian Genome, 2010, v. 21, n. 3/4, p. 186, doi. 10.1007/s00335-010-9255-9

By:

Bernard, David J.;
Nussbaum, Robert L.

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

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

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

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

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

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.

Published in:

Turkish Journal of Pediatrics, 2013, v. 55, n. 3, p. 331

By:

Rezan Topaloğlu;
Michael Ludwig;
Aslı Çelebi-Tayfur

Publication type:

Article

A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.

Published in:

Turkish Journal of Pediatrics, 2013, v. 55, n. 1, p. 82

By:

Kanık, Ali;
Kasap-Demir, Belde;
Ateşli, Rüya;
Eliaçık, Kayı;
Yavaşcan, Önder;
Helvacı, Mehmet

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

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.

Published in:

Genes, 2018, v. 9, n. 1, p. 15, doi. 10.3390/genes9010015

By:

Suarez-Artiles, Lorena;
Perdomo-Ramirez, Ana;
Ramos-Trujillo, Elena;
Claverie-Martin, Felix

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

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome.

Published in:

Children, 2023, v. 10, n. 7, p. 1166, doi. 10.3390/children10071166

By:

Iotova, Violeta;
Karamfilova, Teodora;
Levkova, Mariya;
Gaydarova, Mariya;
Galcheva, Sonya;
Bliznakova, Dimitrichka

Publication type:

Article

Structure and Function of the Lowe Syndrome Protein OCRL1.

Published in:

Traffic, 2005, v. 6, n. 9, p. 711, doi. 10.1111/j.1600-0854.2005.00311.x

By:

Lowe, Martin

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

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

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

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

Published in:

Pediatric Nephrology, 2017, v. 32, n. 4, p. 621, doi. 10.1007/s00467-016-3535-x

By:

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

Publication type:

Article

The oculocerebrorenal syndrome of Lowe: an update.

Published in:

Pediatric Nephrology, 2016, v. 31, n. 12, p. 2201, doi. 10.1007/s00467-016-3343-3

By:

Bökenkamp, Arend;
Ludwig, Michael

Publication type:

Article

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Published in:

Pediatric Nephrology, 2015, v. 30, n. 6, p. 931, doi. 10.1007/s00467-014-3013-2

By:

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;
Krajewska-Walasek, Małgorzata;
Sethi, Sidharth;
Tasic, Velibor;
Anglani, Franca;
Addis, Maria;
Wasilewska, Anna

Publication type:

Article

The long-term complications of the inherited tubulopathies: an adult perspective.

Published in:

Pediatric Nephrology, 2015, v. 30, n. 3, p. 385, doi. 10.1007/s00467-014-2779-6

By:

Khosravi, Maryam;
Walsh, Stephen

Publication type:

Article

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.

Published in:

Pediatric Nephrology, 2009, v. 24, n. 10, p. 1967, doi. 10.1007/s00467-009-1228-4

By:

Tosetto, Enrica;
Addis, Maria;
Caridi, Gianluca;
Meloni, Cristiana;
Emma, Francesco;
Vergine, Gianluca;
Stringini, Gilda;
Papalia, Teresa;
Barbano, Giancarlo;
Ghiggeri, Gian;
Ruggeri, Laura;
Miglietti, Nunzia;
D'Angelo, Angela;
Melis, Maria;
Anglani, Franca

Publication type:

Article

Renal manifestations of Dent disease and Lowe syndrome.

Published in:

Pediatric Nephrology, 2008, v. 23, n. 2, p. 243, doi. 10.1007/s00467-007-0686-9

By:

Hee Yeon Cho;
Bum Hee Lee;
Hyun Jin Choi;
Il So Ha;
Yong Choi;
Hae Il Cheong

Publication type:

Article

OCRL1 mutations in patients with Dent disease phenotype in Japan.

Published in:

Pediatric Nephrology, 2007, v. 22, n. 7, p. 975, doi. 10.1007/s00467-007-0454-x

By:

Sekine, Takashi;
Nozu, Kandai;
Iyengar, Rashmi;
Fu, Xue;
Matsuo, Masafumi;
Tanaka, Ryojiro;
Iijima, Kazumoto;
Matsui, Emiko;
Harita, Yutaka;
Inatomi, Jun;
Igarashi, Takashi

Publication type:

Article

Anesthetic challenges in a child with Lowe's and Fanconi syndrome.

Published in:

Indian Journal of Anaesthesia, 2018, v. 62, n. 11, p. 900, doi. 10.4103/ija.IJA_294_18

By:

Chaudhari, Shital;
Kaur, Manpreet

Publication type:

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

A Boy with Dent-2 Disease.

Published in:

Collegium Antropologicum, 2011, v. 35, n. 3, p. 925

By:

Vrljičak, Kristina;
Batinić, Danica;
Milošević, Danko;
Nižić-Stančin, Ljiljana;
Ludwig, Michael

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

Simultaneous Bilateral Cataract Surgery in Premature Babies With and Without Retinopathy of Prematurity.

Published in:

U.S. Ophthalmic Review, 2013, v. 6, n. 2, p. 94

By:

Astle, William F.;
Papp, Andrea;
Stifter, Eva;
Sanders, Emi

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

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

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

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

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

Clinical utility gene card for: Lowe syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.177

By:

Bökenkamp, Arend;
Levtchenko, Elena;
Recker, Florian;
Ludwig, Michael

Publication type:

Article

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 6, p. 687, doi. 10.1038/ejhg.2012.225

By:

Addis, Maria;
Meloni, Cristiana;
Tosetto, Enrica;
Ceol, Monica;
Cristofaro, Rosalba;
Melis, Maria Antonietta;
Vercelloni, Paolo;
Del Prete, Dorella;
Marra, Giuseppina;
Anglani, Franca

Publication type:

Article