Works matching DE "LIPOID proteinosis"

Results: 64

Assessing allele-specific expression across multiple tissues from RNA-seq read data.

Published in:

Bioinformatics, 2015, v. 31, n. 15, p. 2497, doi. 10.1093/bioinformatics/btv074

By:

Pirinen, Matti;
Lappalainen, Tuuli;
Zaitlen, Noah A.;
Dermitzakis, Emmanouil T.;
Donnelly, Peter;
McCarthy, Mark I.;
Rivas, Manuel A.

Publication type:

Article

Lipoid proteinosis: towards predictive clinical clues.

Published in:

2018

By:

Abdelmaksoud, A.

Publication type:

Letter to the Editor

Clinical clues early in the lives of individuals with lipoid proteinosis can determine the course of the disease.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 4, p. 428, doi. 10.1111/ced.13075

By:

Hamie, L.;
Knio, Z.;
Abbas, O.;
Akel, R.;
Bardawil, T.;
Kibbi, A. G.;
Kurban, M.

Publication type:

Article

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ ANTXR2 gene.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 6, p. 636, doi. 10.1111/ced.12616

By:

Vahidnezhad, H.;
Ziaee, V.;
Youssefian, L.;
Li, Q.;
Sotoudeh, S.;
Uitto, J.

Publication type:

Article

Averting the Legacy of Kidney Disease: Focus on Childhood.

Published in:

2016

By:

Ingelinger, J. R.;
Kalantar-Zadeh, K.;
Schaefer, F.

Publication type:

Editorial

Lipoid Proteinosis--A Pediatric Otolaryngologist's Perspective: A Case Report and Review of Literature.

Published in:

2015

By:

Trupthi, M. C.;
Syed, Kamran Asif;
Sivaranjini, R.;
Mukhopadhyay, Sramana;
Varghese, Ajoy Mathew

Publication type:

Case Study

Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis.

Published in:

Indian Journal of Medical Research, 2016, v. 143, n. 3, p. 303, doi. 10.4103/0971-5916.182620

By:

Izadi, Farzad;
Mahjoubi, Frouzandeh;
Farhadi, Mohammad;
Kalayinia, Samira;
Bidmeshkipour, Ali;
Tavakoli, Mohammad. Moein;
Samanian, Sara

Publication type:

Article

Viva questions from the IJDVL.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 5, p. 550, doi. 10.4103/0378-6323.163808

By:

Viswanath, Vishalakshi;
Vasani, Resham

Publication type:

Article

Lipoid proteinosis.

Published in:

2015

By:

Rao, Angoori Gnaneshwar;
Koppada, Divya

Publication type:

Letter to the Editor

Effect of geraniol, a plant derived monoterpene on lipids and lipid metabolizing enzymes in experimental hyperlipidemic hamsters.

Published in:

Molecular & Cellular Biochemistry, 2015, v. 398, n. 1/2, p. 39, doi. 10.1007/s11010-014-2203-3

By:

Jayachandran, Muthukumaran;
Chandrasekaran, Balaji;
Namasivayam, Nalini

Publication type:

Article

Intensive immunosuppressive therapy for endogenous lipoid pneumonia associated with rheumatoid arthritis.

Published in:

Modern Rheumatology, 2018, v. 28, n. 6, p. 1044, doi. 10.1080/14397595.2016.1193270

By:

Hiroko Morita;
Satoko Arai;
Kazuhiro Kurasawa;
Harutsugu Okada;
Ayae Tanaka;
Ryutaro Yamazaki;
Takayoshi Owada;
Reika Maezawa

Publication type:

Article

Exogenous lipoid pneumonia caused by herbicide inhalation.

Published in:

Respirology Case Reports, 2016, v. 4, n. 5, p. 1, doi. 10.1002/rcr2.172

By:

Takamasa Hotta;
Yukari Tsubata;
Tamio Okimoto;
Teppei Hoshino;
Shun-ichi Hamaguchi;
Takeshi Isobe

Publication type:

Article

Lipoid Proteinosis treated as post acne scars - A clinical diagnostic error.

Published in:

2015

By:

Rather, Shagufta;
Nisa, Nuzhatun;
Arif, Tasleem

Publication type:

Letter to the Editor

A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx.

Published in:

2014

By:

Swain, Santosh Kumar;
Panda, Maitreyee;
Patro, Nibedita;
Sahu, Mahesh Chandra

Publication type:

Case Study

Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice.

Published in:

2013

By:

Koganti, Deepthi

Publication type:

Case Study

Lipoid proteinosis: A review with two case reports.

Published in:

Contemporary Clinical Dentistry, 2015, v. 6, n. 2, p. 233, doi. 10.4103/0976-237X.156053

By:

KABRE, VISHAL;
RANI, SMITHA;
PAI, KEERTHILATHA M.;
KAMRA, SAKSHI

Publication type:

Article

Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis.

Published in:

Acta Medica Iranica, 2018, v. 56, n. 7, p. 474

By:

Morovvati, Saeid;
Farshadyeganeh, Paniz;
Hamidizadeh, Mojdeh;
Morovvati, ziba;
Samaneh Doost Mohammadi

Publication type:

Article

Hyalinosis Cutis et Mucosae: Diagnosis Based on Oral Manifestations - Report of a Case.

Published in:

2008

By:

Xanthinaki, A. A.;
Donta, C.;
Gatou, V.;
Tsichlakis, C.

Publication type:

Case Study

Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology.

Published in:

2015

By:

O'Blenes, Catherine;
Pasternak, Sylvia;
Issekutz, Andrew;
Gillis, Jane;
Chowdhury, Dhiman;
Finlayson, Laura

Publication type:

Case Study

Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO<sub>2</sub> and Non-ablative Radio Frequency: A Rare Case Report.

Published in:

2018

By:

Madura, Chandraiah;
Priya, Arti;
Chandrashekar, Byalekere Shivanna

Publication type:

Case Study

The frequency of laryngeal involvement in lipoid proteinosis patients.

Published in:

Annals of Medical of Research, 2019, v. 26, n. 5, p. 909, doi. 10.5455/annalsmedres.2019.01.059

By:

Yukkaldiran, Ahmet;
Aksoy, Mustafa;
Yesilova, Yavuz;
Demir, Mahmut;
Iynen, Ismail;
An, Isa;
Tanrikulu, Osman

Publication type:

Article

Lipoid proteinosis and epilepsy: Molecular analysis.

Published in:

Annals of Medical of Research, 2019, v. 26, n. 4, p. 744, doi. 10.5455/annalsmedres.2019.02.100

By:

Tecellioglu, Mehmet;
Kamisli, Ozden;
Acar, Ceren;
Mergen, Hatice;
Sozen, Mert;
Karaduman, Tugce;
Sarac, Gulbahar;
Erbay, Mehmet Fatih

Publication type:

Article

Lipoid Proteinosis; A Case Report with Difficult Intubation.

Published in:

2018

By:

Haider, Syed Aftab;
Sultan, Atqua;
Waris, Salman;
Fayyaz, Aatir;
Salman, Zaira

Publication type:

Case Study

Acitretin Treatment for Lipoid Proteinosis.

Published in:

Case Reports in Dermatological Medicine, 2012, p. 1, doi. 10.1155/2012/324506

By:

Gündüz, Özgür;
Şahiner, Neriman;
Atasoy, Pınar;
Şenyücel, Cağrı

Publication type:

Article

Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2018, v. 35, n. 2, p. 208, doi. 10.5114/ada.2018.75245

By:

Ludew, Dominik;
Wertheim-Tysarowska, Katarzyna;
Budnik, Katarzyna;
Grabarczyk, Alicja;
Kowalewski, Cezary;
Kapińska-Mrowiecka, Monika

Publication type:

Article

Urbach--Weithe disease (lipoid proteinosis): A classical presentation.

Published in:

2016

By:

Sangwan, Ankita;
Kaur, Sarabjit;
Jain, Vijay K.;
Dayal, Surabhi

Publication type:

Case Study

An indurated plantar plaque with surface nodularity.

Published in:

2015

By:

Craig-Muller, Soren;
Elston, Dirk M.

Publication type:

Case Study

Lipoid proteinosis (Urbach-Wiethe disease) in two siblings.

Published in:

Indian Dermatology Online Journal, 2014, v. 5, n. 6, p. S95, doi. 10.4103/2229-5178.146168

By:

Thaddanee, Rekha;
Khilnani, Ajeet Kumar;
Pandya, Purna;
Chaturvedi, Mayank

Publication type:

Article

Lipoid proteinosis (Urbach-Wiethe disease) in two siblings.

Published in:

Indian Dermatology Online Journal, 2014, v. 5, n. 2, p. S95, doi. 10.4103/2229-5178.146168

By:

Thaddanee, Rekha;
Khilnani, Ajeet Kumar;
Pandya, Purna;
Chaturvedi, Mayank

Publication type:

Article

A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report.

Published in:

2012

By:

KACHEWAR, SUSHIL G.;
KULKARNI, DEVIDAS S.

Publication type:

Case Study

Gastrointestinal Involvement in Lipoid Proteinosis: A Ten-Year Follow-Up of a Brazilian Female Patient.

Published in:

2014

By:

Lima, Juliana Custódio;
Nagasako, Cristiane Kibune;
Montes, Ciro Garcia;
Barcelos, Irene Harumi Kamata;
de Carvalho, Rita Barbosa;
Mesquita, Maria Aparecida

Publication type:

Case Study

Successful Outcome of a Corticodependent Henoch-Schönlein Purpura Adult with Rituximab.

Published in:

2014

By:

Sala, Taylor Pindi;
Michot, Jean-Marie;
Snanoudj, Renaud;
Dollat, Marion;
Estève, Emmanuel;
Marie, Bernadette;
Taoufik, Yacine;
Delfraissy, Jean-François;
Lazure, Thierry;
Lambotte, Olivier

Publication type:

Case Study

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis.

Published in:

Case Reports in Medicine, 2012, p. 1, doi. 10.1155/2012/281516

By:

Abtahi, Seyed-Mojtaba;
Kianersi, Farzan;
Abtahi, Mohammad-Ali;
Abtahi, Seyed-Hossein;
Zahed, Arash;
Fesharaki, Hamid-Reza;
Abtahi, Zahra-Alsadat;
Baradaran, Shahzad;
Mazloumi, Mehdi;
Naghiabadi, Saeed

Publication type:

Article

Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.

Published in:

Journal of Translational Medicine, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1479-5876-12-85

By:

Rong Zhang;
Yang Liu;
Yang Xue;
Yinan Wang;
Xinwen Wang;
Songtao Shi;
Tao Cai;
Qintao Wang

Publication type:

Article

Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases.

Published in:

Clinical Oral Investigations, 2017, v. 21, n. 7, p. 2245, doi. 10.1007/s00784-016-2017-7

By:

Frenkel, Boaz;
Vered, Marilena;
Taicher, Shlomo;
Yarom, Noam

Publication type:

Article

Lipoid proteinosis: A rare congenital genodermatosis.

Published in:

Journal of Dr. NTR University of Health Sciences, 2017, v. 6, n. 3, p. 166, doi. 10.4103/JDRNTRUHS.JDRNTRUHS_23_17

By:

Rath, Mitali Madhumita;
Mohanty, Pranita

Publication type:

Article

Lipoid proteinosis: A case report.

Published in:

Journal of Dr. NTR University of Health Sciences, 2017, v. 6, n. 2, p. 133, doi. 10.4103/2277-8632.208009

By:

Bharathi, Ramakrishnan;
Gnanadeepam, Santiago;
Parthiban, Nallaiyan;
Kamalakaran, Arunkumar

Publication type:

Article

Lipoid Proteinosis: A Rare Encounter in Dental Office.

Published in:

2015

By:

Deshpande, Prasannasrinivas;
Guledgud, Mahima Veeranna;
Patil, Karthikeya;
Hegde, Usha;
Sahni, Ankita;
Huchanahalli Sheshanna, Sreeshlya

Publication type:

Case Study

N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis.

Published in:

FEBS Open Bio, 2014, v. 4, p. 879, doi. 10.1016/j.fob.2014.10.004

By:

Uematsu, Shiho;
Goto, Yuki;
Suzuki, Takehiro;
Sasazawa, Yukiko;
Dohmae, Naoshi;
Simizu, Siro

Publication type:

Article

Exogenous lipoid pneumonia associated with oil pulling: Report of two cases.

Published in:

Monaldi Archives for Chest Disease, 2018, v. 88, n. 3, p. 6, doi. 10.4081/monaldi.2018.922

By:

Chi Fong Wong;
See Wan Yan;
Wai Mui Wong;
Ho, Ronnie S. L.

Publication type:

Article

Perspectives on Neuroscience and Behavior.

Published in:: Neuroscientist, 2013, v. 19, n. 4, p. 334, doi. 10.1177/1073858413492493
Publication type:: Article

Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing.

Published in:

Dermatologic Therapy, 2015, v. 28, n. 5, p. 291, doi. 10.1111/dth.12247

By:

Çalıskan, Ercan;
Açıkgöz, Gürol;
Tunca, Mustafa;
Koç, Erol;
Arca, Ercan;
Akar, Ahmet

Publication type:

Article

Lipoid proteinosis in two Indian brothers -- a case report from South Bengal.

Published in:

2014

By:

Shome, K.;
Das, I.;
Saha, A.;
Jain, N.;
Seth, J.;
Rajesh

Publication type:

Case Study

Lipoid proteinosis: case report and a brief review.

Published in:

Journal of Pakistan Association of Dermatologists, 2012, v. 22, n. 2, p. 157

By:

Keen, Abid;
Hassan, Iffat;
Manaan, Qazi;
Masood, Qazi

Publication type:

Article

Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.

Published in:

2019

By:

Gao, Dong;
Ma, Xianying;
Lian, Peiwen;
Zhou, Surong;
Chen, Jian

Publication type:

Correction Notice

Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.

Published in:

Molecular Medicine Reports, 2018, v. 17, n. 6, p. 8087, doi. 10.3892/mmr.2018.8928

By:

Gao, Dong;
Ma, Xianying;
Lian, PeiwEN;
Zhou, Surong;
ChEN, Jian

Publication type:

Article

Impaired acquisition of classically conditioned fear-potentiated startle reflexes in humans with focal bilateral basolateral amygdala damage.

Published in:

Social Cognitive & Affective Neuroscience, 2015, v. 10, n. 9, p. 1161, doi. 10.1093/scan/nsu164

By:

Klumpers, Floris;
Morgan, Barak;
Terburg, David;
Stein, Dan J.;
van Honk, Jack

Publication type:

Article

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.

Published in:

Molecular Biology Reports, 2014, v. 41, n. 4, p. 2085, doi. 10.1007/s11033-014-3057-1

By:

Nasir, Muhammad;
Rahman, Simeen;
Sieber, Christian;
Mir, Asif;
Latif, Amir;
Ahmad, Nafees;
Malik, Salman;
Hameed, Abdul

Publication type:

Article

Two Egyptian cases of lipoid proteinosis successfully treated with acitretin.

Published in:

2014

By:

Ahmed Bakry, Ola;
Monir Samaka, Rehab;
Shawky Houla, Nanees;
Ahmed Basha, Mohamed

Publication type:

Case Study

Ocular manifestations in lipoid proteinosis: A rare clinical entity.

Published in:

2015

By:

Kamath, Sumana J.;
Marthala, HimaBindu;
Manapragada, BinduMadhavi

Publication type:

journal article