Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). - Wikidata - awgldk - TriplyDB

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

http://www.wikidata.org/entity/Q33958324

about

Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis Phospholipid scramblase 1 is secreted by a lipid raft-dependent pathway and interacts with the extracellular matrix protein 1 in the dermal epidermal junction zone of human skin JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome Receptor and secreted targets of Wnt-1/beta-catenin signalling in mouse mammary epithelial cells Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.Identification of metastasis-associated proteins in a human tumor metastasis model using the mass-mapping technique.Interaction between cartilage oligomeric matrix protein and extracellular matrix protein 1 mediates endochondral bone growth.Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.What does the amygdala contribute to social cognition?Gastrointestinal involvement in lipoid proteinosis: a ten-year follow-up of a brazilian female patient.Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature.Does bilateral damage to the human amygdala produce autistic symptoms?Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.Lipoid proteinosis: case report and review of the literature.Nodular bilateral amygdala degeneration in demented individuals.Lipoid proteinosis.Extracellular matrix protein 1 regulates cell proliferation and trastuzumab resistance through activation of epidermal growth factor signaling.Stromal protein Ecm1 regulates ureteric bud patterning and branching.N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis.The role of extracellular matrix protein 1 in human skin.Translational benefits from research on rare genodermatoses.The phenotype of human STK4 deficiency.Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis Acitretin treatment for lipoid proteinosis.Lipoid proteinosis mimicking congenital immunodeficiency: a case report.A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis.The role of the basolateral amygdala in the perception of faces in natural contexts.A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.Lipoid proteinosis: a case series from Istanbul.Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.Full Blown Case of Lipoid Proteinosis Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications.ECM1 promotes migration and invasion of hepatocellular carcinoma by inducing epithelial-mesenchymal transition.Reduced 5-HT(2A) receptor signaling following selective bilateral amygdala damage.The extracellular matrix protein 1: its molecular interaction and implication in tumor progression.Lipoid proteinosis: pathognomonic clinical and radiological features.

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P2860

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

http://www.wikidata.org/entity/Q33958324

description

2002 nî lūn-bûn

@nan

2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2002年の論文

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2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

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2002年论文

@wuu

name

Lipoid proteinosis maps to 1q2 ...... matrix protein 1 gene (ECM1).

@ast

Lipoid proteinosis maps to 1q2 ...... matrix protein 1 gene (ECM1).

@en

type

label

Lipoid proteinosis maps to 1q2 ...... matrix protein 1 gene (ECM1).

@ast

Lipoid proteinosis maps to 1q2 ...... matrix protein 1 gene (ECM1).

@en

prefLabel

Lipoid proteinosis maps to 1q2 ...... matrix protein 1 gene (ECM1).

@ast

Lipoid proteinosis maps to 1q2 ...... matrix protein 1 gene (ECM1).

@en

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P1433

Human Molecular Genetics

P1476

Lipoid proteinosis maps to 1q2 ...... r matrix protein 1 gene (ECM1)

@en

P2093

Andrew P South

http://www.w3.org/2001/XMLSchema#string

Colin S Munro

http://www.w3.org/2001/XMLSchema#string

Gabrielle H S Ashton

http://www.w3.org/2001/XMLSchema#string

Guy E Orchard

http://www.w3.org/2001/XMLSchema#string

Hong Wan

http://www.w3.org/2001/XMLSchema#string

Isobel Edelstein

http://www.w3.org/2001/XMLSchema#string

Jemima E Mellerio

http://www.w3.org/2001/XMLSchema#string

Jian Ni

http://www.w3.org/2001/XMLSchema#string

Lurong Zhang

http://www.w3.org/2001/XMLSchema#string

Maurice A M van Steensel

http://www.w3.org/2001/XMLSchema#string

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833-840

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scholarly article

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10.1093/HMG/11.7.833

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7

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11

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2002-04-01T00:00:00Z

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11435374

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11929856

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P921

extracellular matrix