Synergistic Interaction between Ciliary Genes Reflects the Importance of Mutational Load in Ciliopathies
نویسندگان
چکیده
منابع مشابه
Scrutinizing ciliopathies by unraveling ciliary interaction networks.
Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenotypes that ranges from relatively mild characteristics in isolated tissues with ...
متن کامل[Primary ciliary dyskinesia. Ciliopathies].
Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome). Diagnosis is made by analyzing cilia motility with high-speed digital video and ciliar ...
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Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber ...
متن کاملanalyzing patterns of classroom interaction in efl classrooms in iran
با به کار گیری روش گفتما ن شنا سی در تحقیق حا ضر گفتا ر میا ن آموزگا را ن و زبا ن آموزا ن در کلا سهای زبا ن انگلیسی در ایرا ن مورد بررسی قرار گرفت. ا هداف تحقیق عبا رت بودند از: الف) شنا سا ئی سا ختارهای ارتبا ط گفتا ری میا ن معلمین و زبا ن آموزا ن ب) بررسی تا ثیر نقش جنسیت دبیرا ن و زبا ن آموزان بر سا ختا رهای ارتبا ط گفتا ری میا ن آنها پ) مشخص کردن اینکه آ یا آموزگاران غا لب بر این ارتبا ط گف...
the relationship between academic self-concept and academic achievement in english and general subjects of the students of high school
according to research, academic self-concept and academic achievement are mutually interdependent. in the present study, the aim was to determine the relationship between the academic self-concept and the academic achievement of students in english as a foreign language and general subjects. the participants were 320 students studying in 4th grade of high school in three cities of noor, nowshah...
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ژورنال
عنوان ژورنال: Journal of the American Society of Nephrology
سال: 2010
ISSN: 1046-6673,1533-3450
DOI: 10.1681/asn.2010030301