Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.-论文-万方医学网

第一作者： Serge,Bonnefoy

第一单位： Trypanosome Cell Biology Unit & INSERM U1201, Institut Pasteur, 25, rue du Docteur Roux, 75015 Paris, France.

作者： Serge,Bonnefoy ^[1] ; Christopher M,Watson ^[2] ; Kristin D,Kernohan ^[3] ; Moara,Lemos ^[1] ; Sebastian,Hutchinson ^[1] ; James A,Poulter ^[4] ; Laura A,Crinnion ^[2] ; Ian,Berry ^[5] ; Jennifer,Simmonds ^[5] ; Pradeep,Vasudevan ^[6] ; Chris,O'Callaghan ^[7] ; Robert A,Hirst ^[6] ; Andrew,Rutman ^[6] ; Lijia,Huang ^[3] ; Taila,Hartley ^[3] ; David,Grynspan ^[8] ; Eduardo,Moya ^[9] ; Chunmei,Li ^[10] ; Ian M,Carr ^[4] ; David T,Bonthron ^[2] ; Michel,Leroux ^[10] ; Care4Rare Canada Consortium ^[3] ; Kym M,Boycott ^[3] ; Philippe,Bastin ^[11] ; Eamonn G,Sheridan ^[12]

作者单位： Trypanosome Cell Biology Unit & INSERM U1201, Institut Pasteur, 25, rue du Docteur Roux, 75015 Paris, France. ^[1] Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds LS9 7TF, UK; School of Medicine, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK. ^[2] Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. ^[3] School of Medicine, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK. ^[4] Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds LS9 7TF, UK. ^[5] Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK. ^[6] Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK; Respiratory, Critical Care & Anaesthesia, Institute of Child Health, University College London & Great Ormond Street Children's Hospital, 30 Guilford Street, London WC1N 1EH, UK. ^[7] Department of Pathology, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada. ^[8] Bradford Royal Infirmary, Bradford, West Yorkshire BD9 6R, UK. ^[9] Department of Molecular Biology and Biochemistry, and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, BC, Canada. ^[10] Trypanosome Cell Biology Unit & INSERM U1201, Institut Pasteur, 25, rue du Docteur Roux, 75015 Paris, France. Electronic address: philippe.bastin@pasteur.fr. ^[11] Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds LS9 7TF, UK; School of Medicine, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK. Electronic address: e.sheridan@leeds.ac.uk. ^[12]

主题词成年人(Adult);等位基因(Alleles);轴丝(Axoneme);生物转运(Biological Transport);细胞系(Cell Line);衣滴虫属(Chlamydomonas);纤毛(Cilia);动力蛋白(Dyneins);上皮细胞(Epithelial Cells);女(雌)性(Female);鞭毛(Flagella);HEK293细胞(HEK293 Cells);人类(Humans);婴儿(Infant);男(雄)性(Male);黏膜纤毛清除(Mucociliary Clearance);突变(Mutation);表型(Phenotype);蛋白质类(Proteins);布鲁斯锥虫布鲁斯亚种(Trypanosoma brucei brucei)

DOI 10.1016/j.ajhg.2018.10.003

PMID 30388400

发布时间 2023-10-04

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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

American journal of human genetics

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American journal of human genetics

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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

American journal of human genetics

相似文献

American journal of human genetics

相关期刊

检索历史清除