Connecting autoimmune disease to Bardet-Biedl syndrome and primary cilia

Kanie Tomoharu; Jackson Peter K.

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Connecting autoimmune disease to Bardet-Biedl syndrome and primary cilia

机译：将自身免疫疾病连接到BARDET-BIEDL综合征和小纤毛

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Bardet-Biedl syndrome (BBS) is a genetic disorder caused by the dysfunction of the primary cilium. To date, immunological defects in the disease have not been systematically assessed. In this issue, Tsyklauri and colleagues find, through detailed analysis of BBS mutant animals, that B-cell development is altered in mutant mice (Tsyklauri et al, 2021). The authors further report that BBS patients are more susceptible to autoimmune disorders. This study sheds new light on the potential role of primary cilia in controlling immune function in disease.

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《EMBO reports》 |2021年第2期|共3页
作者
Kanie Tomoharu; Jackson Peter K.;
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作者单位

Stanford Univ Sch Med Dept Microbiol &

Immunol Baxter Lab Stanford CA 94305 USA;

Stanford Univ Sch Med Dept Microbiol &

Immunol Baxter Lab Stanford CA 94305 USA;

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原文格式 PDF
正文语种 eng
中图分类分子生物学;
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1. Clinical characteristics and the incidence of extrahepatic autoimmune disease and malignant tumor in primary biliary cirrhosis-autoimmune hepatitis overlap syndrome [J] . 杨蜜蜜中国医学文摘：内科学分册（英文版） . 2013,第004期
2. SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome [J] . Wormser Ohad, Gradstein Libe, Yogev Yuval, European journal of human genetics: EJHG . 2019,第6期

机译：赤眼定位到原发性纤毛，其突变会影响纤毛长度，导致BARDET-BIEDL综合征
3. Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia [J] . Alexander?V. Loktev, Peter?K. Jackson Cell Reports . 2013,第5期

机译：通过Bardet-Biedl综合征途径向神经元原发纤毛发出信号的神经肽Y家族受体运输
4. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. [J] . Bennouna Greene V, Kremer S, Stoetzel C, Clinical Genetics: An International Journal of Genetics in Medicine . 2011,第6期

机译：Bardet-Biedl综合征患者的海马发育不全和可变的神经精神病学表型强调了复杂的中枢神经系统对原发纤毛的影响。
5. Autoimmune Diseases and Sjoegren's Syndrome: An Autoimmune Exocrinopathy [C] . PHILIP C. FOX, New York Academy of Sciences Conference on Oral-Based Diagnostics . 2007

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6. Bardet-Biedl syndrome and olfaction: Illuminating cilia and sensory neuron biology in a model of human-ciliopathy [D] . Tadenev, Abigail Lynn Davidson 2011

机译：Bardet-Biedl综合征和嗅觉：启发人纤毛病模型中的纤毛和感觉神经元生物学
7. SCAPER localizes to primary cilia and its mutation affects cilia length causing Bardet-Biedl syndrome [O] . Ohad Wormser, Libe Gradstein, Yuval Yogev, 2019

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机译：赤眼定位到原发性纤毛，其突变会影响纤毛的长度，导致BARDET-BIEDL综合征
9. Role of Respirable Saudi Arabian Sand and Pyridostigmine in the Gulf War syndrome: An Autoimmune Adjuvant Disease. [R] . Sopori, M. L. 2002

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Connecting autoimmune disease to Bardet-Biedl syndrome and primary cilia

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