Cargando…

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

BACKGROUND & OBJECTIVES: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis). Mutations in the ECM1 gene on 1q21.2 are responsible for this di...

Descripción completa

Detalles Bibliográficos
Autores principales:	Izadi, Farzad, Mahjoubi, Frouzandeh, Farhadi, Mohammad, Kalayinia, Samira, Bidmeshkipour, Ali, Tavakoli, Mohammad Moein, Samanian, Sara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2016
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892076/ https://www.ncbi.nlm.nih.gov/pubmed/27241643 http://dx.doi.org/10.4103/0971-5916.182620

Ejemplares similares

Lipoid proteinosis
por: Rao, Roopa Shamsundar, et al.
Publicado: (2009)

Lipoid Proteinosis
por: Mittal, Hitesh C, et al.
Publicado: (2016)

N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis
por: Uematsu, Shiho, et al.
Publicado: (2014)

Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene
por: Ludew, Dominik, et al.
Publicado: (2018)

AKAP4, SPAG9 and NY-ESO-1 in Iranian Colorectal Cancer Patients as Probable Diagnostic and Prognostic Biomarkers
por: Koudehi, Ameneh Tavakoli, et al.
Publicado: (2018)

Acitretin Treatment for Lipoid Proteinosis
por: Gündüz, Özgür, et al.
Publicado: (2012)

Esophageal Aperistalsis in a Patient with Lipoid Proteinosis
por: Afshar, Behrooz, et al.
Publicado: (2018)

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family
por: Nasir, Muhammad, et al.
Publicado: (2011)

Lipoid Proteinosis in two Iranian Sisters: A Case Report and Review of Literature
por: Malekzad, F, et al.
Publicado: (2011)

Lipoid proteinosis: A rare entity
por: Mukherjee, Bipasha, et al.
Publicado: (2015)

Lipoid Proteinosis Masquerading as Seborrheic Dermatitis
por: Tripathi, Alka, et al.
Publicado: (2021)

Lipoid proteinosis: Review of Indian cases
por: Shah, Jigna S, et al.
Publicado: (2022)

Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients
por: Zhang, Rong, et al.
Publicado: (2014)

Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis
por: Dertlioğlu, Selma Bakar, et al.
Publicado: (2019)

Lipoid Proteinosis: Curious Case of Two Siblings!
por: Agarwal, Pooja, et al.
Publicado: (2020)

Association Between Lipoid Proteinosis and Coeliac Disease
por: Bendaoud, Layla, et al.
Publicado: (2023)

Lipoid Proteinosis: A Rare Case Revisited
por: Achar, Arun, et al.
Publicado: (2023)

Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings
por: Tabassum, Hera, et al.
Publicado: (2020)

Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene
por: Gao, Dong, et al.
Publicado: (2019)

Severe Short Stature: an unusual finding in lipoid proteinosis
por: Poyrazoğlu, Şükran, et al.
Publicado: (2008)

Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions
por: Gutte, Rameshwar, et al.
Publicado: (2012)

Lipoid proteinosis in a six-year-old child
por: Nayak, Surajit, et al.
Publicado: (2012)

Lipoid proteinosis: A review with two case reports
por: Kabre, Vishal, et al.
Publicado: (2015)

Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
por: Thaddanee, Rekha, et al.
Publicado: (2014)

Lipoid Proteinosis: A Rare Encounter in Dental Office
por: Deshpande, Prasannasrinivas, et al.
Publicado: (2015)

Lipoid proteinosis: Unfamiliar skin findings delay diagnosis
por: Larkin, Sydney, et al.
Publicado: (2018)

An Unusual Case of Erythropoietic Protoporphyria Mimicking Lipoid Proteinosis
por: Kaur, Sarabjit, et al.
Publicado: (2019)

Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis
por: Bai, Xiao, et al.
Publicado: (2016)

Prognostic Value of FBXO39 and ETS-1 but not BMI-1 in Iranian Colorectal Cancer Patients
por: Motalebzadeh, Jamshid, et al.
Publicado: (2018)

Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh
por: Khan, Md. Azraf Hossain, et al.
Publicado: (2023)

Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis
por: Mondejar, Rufino, et al.
Publicado: (2014)

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
por: Salih, Mustafa A, et al.
Publicado: (2011)

Ocular manifestations in lipoid proteinosis: A rare clinical entity
por: Kamath, Sumana J, et al.
Publicado: (2015)

Urbach–Weithe disease (lipoid proteinosis): A classical presentation
por: Sangwan, Ankita, et al.
Publicado: (2016)

Intra-Familial Variability of Lipoid Proteinosis: An Indian Case Series
por: Lohia, Kriti, et al.
Publicado: (2021)

Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease)()()
por: de Almeida, Hiram Larangeira, et al.
Publicado: (2021)

Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
por: Xu, Mengjun, et al.
Publicado: (2023)

Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications
por: Chandrasekaran, Subhashree, et al.
Publicado: (2016)

Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases
por: Wei, Zhenyu, et al.
Publicado: (2021)

Late presentation of laryngeal lipoid proteinosis: a case report and review of the literature
por: Alrusayyis, Danah F, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_c9q2vpvndmanianc5i9s85o5f8