تفاصيل الوثيقة
نوع الوثيقة |
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مقال في مجلة دورية |
عنوان الوثيقة |
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Identification of novel genetic variations affecting osteoarthritis patients Identification of novel genetic variations affecting osteoarthritis patients |
لغة الوثيقة |
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الانجليزية |
المستخلص |
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Background: Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular
matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure that is
mainly composed of type II collagen and provides tensile strength to the tissue via aggrecan and proteoglycans.
However, changes in the ECM composition and structure can lead to loss of collagen type II and network integrity.
Several risk factors have been correlated with OA including age, genetic predisposition, hereditary factors, obesity,
mechanical injuries, and joint trauma. Certain genetic association studies have identified several genes associated
with OA using genome-wide association studies (GWASs).
Results: We identified several novel genetic variants affecting genes that function in several candidate causative
pathways including immune responses, inflammatory and cartilage degradation such as SELP, SPN, and COL6A6.
Conclusions: The approach of whole-exome sequencing can be a promising method to identify genetic mutations
that can influence the OA disease. |
ردمد |
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1471-2350 |
اسم الدورية |
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BMC medical genetics |
المجلد |
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17 |
العدد |
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1 |
سنة النشر |
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1437 هـ
2016 م |
نوع المقالة |
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مقالة علمية |
تاريخ الاضافة على الموقع |
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Tuesday, July 18, 2017 |
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الباحثون
Mamdooh Abdullah Gari | Gari, Mamdooh Abdullah | باحث | دكتوراه | |
Mohammed AlKaff | AlKaff, Mohammed | باحث | دكتوراه | |
Mohammed M Abbas | Abbas, Mohammed M | باحث | دكتوراه | |
Haneen S Alsehli | Alsehli, Haneen S | باحث | دكتوراه | |
Ashraf Dallol | Dallol, Ashraf | باحث | دكتوراه | |
Abdullah Gari | Gari, Abdullah | باحث | دكتوراه | |
Muhammad Abu-Elmagd | Abu-Elmagd, Muhammad | باحث | دكتوراه | |
Roaa Kadam | Kadam, Roaa | باحث | | |
Mohammed F. Abuzinadah | Abuzinadah, Mohammed F. | باحث | دكتوراه | |
Mazin Gari | Gari, Mazin | باحث | دكتوراه | |
Adel M Abuzenadah | Abuzenadah, Adel M | باحث | دكتوراه | |
Kalamegam Gauthaman | Gauthaman, Kalamegam | باحث | دكتوراه | |
Heba Alkhatabi | Alkhatabi, Heba | باحث | دكتوراه | |
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