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A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis
المؤلفون المشاركون
Ebrahim-Habibi, Azadeh
Saeedi, Marjan
Zarrabi, Fariba
Robati, Reza M.
Haghighi, Alireza
Amoli, Mahsa M.
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-06-26
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Primary localized cutaneous amyloidosis (PLCA) is a chronic skin disorder, caused by amyloid material deposition in the upper dermis.
Autosomal dominant PLCA has been mapped earlier to pathogenic missense mutations in the OSMR gene, which encodes the oncostatin M receptor ß subunit (OSMRß).
OSMRß is interleukin-6 family cytokine receptors and possesses two ligands, oncostatin M and interleukin-31, which both have biologic roles in inflammation and keratinocyte cell proliferation, differentiation, and apoptosis.
Here, we identified a new OSMR mutation in a Kurdish family for the first time.
Blood samples were taken from all the affected individuals in the family.
DNA extraction was performed using salting out technique.
Primers were designed for intron flanking individual exons of OSMR gene which were subjected to direct sequencing after PCR amplification for each sample.
Sequencing showed a C/T substitution at position 613 in the proband.
This mutation results in an L613S (leucine 613 to serine) amino acid change.
The identified mutation was observed in all affected family members but not in 100 ethnically matched healthy controls.
Elucidating the molecular basis of familial PLCA provides new insight into mechanisms of itch in human skin and may lead to new therapeutic targets for pruritus.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Saeedi, Marjan& Ebrahim-Habibi, Azadeh& Haghighi, Alireza& Zarrabi, Fariba& Amoli, Mahsa M.& Robati, Reza M.. 2014. A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis. BioMed Research International،Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-488558
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Saeedi, Marjan…[et al.]. A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis. BioMed Research International No. 2014 (2014), pp.1-6.
https://search.emarefa.net/detail/BIM-488558
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Saeedi, Marjan& Ebrahim-Habibi, Azadeh& Haghighi, Alireza& Zarrabi, Fariba& Amoli, Mahsa M.& Robati, Reza M.. A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-488558
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-488558
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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