Works matching Lowe's

Results: 5000

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

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

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

Lowe syndrome: literature review and case report.

Published in:

Journal of Orthodontics, 2008, v. 35, n. 3, p. 156, doi. 10.1179/146531207225022599

By:

Ruellas, Antônio Carlos O.;
Pithon, Matheus M.;
Oliveira, Dauro D.;
Oliveira, Aluisio M.

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

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

The Lowe Syndrome Protein OCRL1 Is Required for Endocytosis in the Zebrafish Pronephric Tubule.

Published in:

PLoS Genetics, 2015, v. 11, n. 4, p. 1, doi. 10.1371/journal.pgen.1005058

By:

Oltrabella, Francesca;
Pietka, Grzegorz;
Ramirez, Irene Barinaga-Rementeria;
Mironov, Aleksandr;
Starborg, Toby;
Drummond, Iain A.;
Hinchliffe, Katherine A.;
Lowe, Martin

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

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

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

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

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

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

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

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

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

Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0024044

By:

Grieve, Adam G.;
Daniels, Rachel D.;
Sanchez-Heras, Elena;
Hayes, Matthew J.;
Moss, Stephen E.;
Matter, Karl;
Lowe, Martin;
Levine, Timothy P.

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

Lowe syndrome with anal atresia: A possible variant of OCRL?

Published in:

Pediatrics International, 2003, v. 45, n. 2, p. 201, doi. 10.1046/j.1442-200X.2003.01697.x

By:

Sönmez, Ferah;
TemoçYn, A Kübra;
Özkan, Seyhan B;
Akçanal, Betül;
Karaman, Can Z;
Türkmen, Münevver;
İnan, Gülten

Publication type:

Article

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 479, doi. 10.1034/j.1399-0004.2000.580609.x

By:

Peverall, J;
Edkins, E;
Goldblatt, J;
Murch, A

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

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

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

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

Lowe syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 16, doi. 10.1186/1750-1172-1-16

By:

Loi, Mario

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

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

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

Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome.

Published in:

Nephrology, 2012, v. 17, n. 1, p. 20, doi. 10.1111/j.1440-1797.2011.01514.x

By:

KE, YAO-HUA;
HE, JIN-WEI;
FU, WEN-ZHEN;
ZHANG, ZHEN-LIN

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

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

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

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

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

SUDI BOSNEVI NA ENGLESKOM GOVORNOM PODRUČJU: WILLIAM HENRY LOWE (1848-1917).

Published in:

Annals of Gazi Husrev-Beg's Library / Anali Gazi Husrev-Begove Biblioteke, 2018, v. 39, p. 227

By:

ZILDŽIĆ, AHMED

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

Antenatal diagnosis of Lowe syndrome.

Published in:

2010

By:

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

Publication type:

Letter

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

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 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

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

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

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066727

By:

Luo, Na;
Kumar, Akhilesh;
Conwell, Michael;
Weinreb, Robert N.;
Anderson, Ryan;
Sun, Yang

Publication type:

Article

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

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

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

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

Lowe T(V): Directing masculinity in a new century.

Published in:

Interactions: Studies in Communication & Culture, 2015, v. 6, n. 3, p. 273, doi. 10.1386/iscc.6.3.273_1

By:

Vayo, Lloyd Isaac

Publication type:

Article

Elizabeth Keckly and Ann Lowe: Recovering an African American Fashion Legacy That Clothed the American Elite.

Published in:

Fashion Theory: The Journal of Dress, Body & Culture, 2015, v. 19, n. 1, p. 115, doi. 10.2752/175174115X14113933306905

By:

Way, Elizabeth

Publication type:

Article