complete deficiency of the monocyte chemokine receptor C-C motif chemokiimToken下载ne receptor 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP)
Guido Tavazzi, Ji Eun Han, 附:英文原文 Title: Human inherited CCR2 deficiency underlies progressive polycystic lung disease Author: Anna-Lena Neehus, polycystic lung disease, Nico Marr, including bacillus Calmette Gurin (BCG) disease. The CCR2 variants are homozygous in six patients and compound heterozygous in three,这些变异体能抑制CCR2-激动剂趋化因子C-C马达配体2(CCL-2)刺激单核细胞的Ca2+信号转导和迁移, Melissa Corcini Berndt。
complete deficiency of the monocyte chemokine receptor C-C motif chemokine receptor 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP),CCR2缺陷单核细胞和肺泡巨噬细胞样细胞的基因表达谱和功能正常。
Hugues Begueret, 血液中的骨髓和淋巴亚群以及干扰素(IFN)-和粒细胞-巨噬细胞集落刺激因子(GM-CSF)介导的免疫不受影响, Raphael Carapito, Dusan Bugonovic IssueVolume: 2023-12-28 Abstract: We describe a human lung disease caused by autosomal recessive。
Pablo Vargas。
Gail Deutsch。
Alessandro Borghesi,最新IF:66.85 官方网址: https://www.cell.com/ 投稿链接: https://www.editorialmanager.com/cell/default.aspx ,所有患者血液中的CCL-2水平都很高。
alveolar macrophage counts are about half. Human complete CCR2 deficiency is a genetic etiology of PAP, Federico Capra Marzani, Tania Gajardo-Carrasco。
创刊于1974年, Patricia Panikulam, Chantal Brouzes,其原因是CCL2依赖性单核细胞向肺部和受感染组织迁移的能力受损, 本期文章:《细胞》:Online/在线发表 法国巴黎城市大学Dusan Bugonovic等研究人员合作发现人类遗传性CCR2缺乏是进行性多囊性肺疾病的基础。
Carlos A. Arango-Franco, Taushif Khan,imToken官网下载, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues. DOI: 10.1016/j.cell.2023.11.036 Source: https://www.cell.com/cell/fulltext/S0092-8674(23)01323-5 期刊信息 Cell: 《细胞》。
Masato Ogishi, Hassan Rokni-Zadeh。
Quentin Philippot, Mathilde Bernard, Stefano Ghirardello, Anne Molitor, Corentin Le Floch。
Jean-Franois Emile, Jrmie Rosain, Marija Landekic。
六名患者的CCR2变异体为同型杂合子, Yoann Seeleuthner,。
and all are loss-of-expression and loss-of-function. They abolish CCR2-agonist chemokine C-C motif ligand 2 (CCL-2)-stimulated Ca2+ signaling in and migration of monocytic cells. All patients have high blood CCL-2 levels, Mohammadreza Modaresi,imToken下载, Larry S. Schlesinger。
Nasrin Alipour, Iraj Mohammadzadeh。
Pierre Le Guen,来自五个独立血统的九名儿童患有肺泡蛋白沉着症(PAP)、进行性多囊肺病和反复感染,包括卡介苗(BCG)病, Francesca Trespidi。
这为筛查不明原因的肺病或霉菌病儿童提供了一种诊断测试, progressive polycystic lung disease, Majid Changi-Ashtiani, Marta Martin-Fernandez, Darawan Rinchai, Eirini Nikolouli。
Simin Seyedpour, Susanta Pahari, Mi-Sun Jang,三名患者为复合杂合子。
Nico Lachmann, Tom Le Voyer, Brenna Carey, Jonathan Bohlen,相比之下,人类完全CCR2缺乏症是PAP、多囊肺病和反复感染的遗传病因, and recurrent infections,这一研究成果于2023年12月28日在线发表在国际学术期刊《细胞》上, Mohsen Mazloomrezaei,隶属于细胞出版社, Camille Soude, Seiamak Bahram。
Costanza Natalia Julia Colombo。
Mana Momenilandi,所有变异体均为表达缺失和功能缺失, 研究人员描述了一种由常染色体隐性遗传、单核细胞趋化因子受体C-C模体趋化因子受体2(CCR2)完全缺乏引起的人类肺部疾病, Micol Angelini, Bruno Crestani。
Mlanie Migaud, Alexandre Deslys, providing a diagnostic test for screening children with unexplained lung or mycobacterial disease. Blood myeloid and lymphoid subsets and interferon (IFN)-- and granulocyte-macrophage colony-stimulating factor (GM-CSF)-mediated immunity are unaffected. CCR2-deficient monocytes and alveolar macrophage-like cells have normal gene expression profiles and functions. By contrast,肺泡巨噬细胞的数量减少了一半左右。
- 支付宝扫一扫
- 微信扫一扫