日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

TMEM17第二个跨膜结构域的错义变异会破坏其稳定性和功能,并导致广泛的纤毛病表型谱。

Boutaud, Lucile; Li, Chunmei; Moncler, Candice; Verlin, Laure; Garfa-Traoré, Meriem; Bourgon, Nicolas; Akbari, Dhruvin; Porée, Jeanne; Serpieri, Valentina; Panza, Marine; Haddad, Lynda; Nitschké, Patrick; Aziza, Jacqueline; Matt, Cristina; Valente, Enza Maria; Gargallo, Patricia; Dubucs, Charlotte; Attié-Bitach, Tania; Leroux, Michel R; Thomas, Sophie

C. elegans PPEF-type phosphatase (Retinal degeneration C ortholog) functions in diverse classes of cilia to regulate nematode behaviors

秀丽隐杆线虫PPEF型磷酸酶(视网膜变性C同源物)在多种纤毛中发挥作用,调节线虫的行为。

Barbelanne, Marine; Lu, Yun; Kumar, Keerthana; Zhang, Xinxing; Li, Chunmei; Park, Kwangjin; Warner, Adam; Xu, X Z Shawn; Shaham, Shai; Leroux, Michel R

Composition, organization and mechanisms of the transition zone, a gate for the cilium

过渡区的组成、组织和机制,纤毛的门户

Park, Kwangjin; Leroux, Michel R

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

加拿大罕见病模型与机制(RDMM)网络:将研究不足的基因与模式生物联系起来

Boycott, Kym M; Campeau, Philippe M; Howley, Heather E; Pavlidis, Paul; Rogic, Sanja; Oriel, Christine; Berman, Jason N; Hamilton, Robert M; Hicks, Geoffrey G; Lipshitz, Howard D; Masson, Jean-Yves; Shoubridge, Eric A; Junker, Anne; Leroux, Michel R; McMaster, Christopher R; Michaud, Jaques L; Turvey, Stuart E; Dyment, David; Innes, A Micheil; van Karnebeek, Clara D; Lehman, Anna; Cohn, Ronald D; MacDonald, Ian M; Rachubinski, Richard A; Frosk, Patrick; Vandersteen, Anthony; Wozniak, Richard W; Pena, Izabella A; Wen, Xiao-Yan; Lacaze-Masmonteil, Thierry; Rankin, Catharine; Hieter, Philip

EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling

EFHC1与青少年肌阵挛性癫痫有关,它在纤毛和突触处发挥作用,调节多巴胺信号传导。

Loucks, Catrina M; Park, Kwangjin; Walker, Denise S; McEwan, Andrea H; Timbers, Tiffany A; Ardiel, Evan L; Grundy, Laura J; Li, Chunmei; Johnson, Jacque-Lynne; Kennedy, Julie; Blacque, Oliver E; Schafer, William; Rankin, Catharine H; Leroux, Michel R

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

LRRC56 的双等位基因突变编码一种与鞭毛内运输相关的蛋白质,导致粘液纤毛清除和侧向性缺陷

Bonnefoy Serge, Watson Christopher M, Kernohan Kristin D, Lemos Moara, Hutchinson Sebastian, Poulter James A, Crinnion Laura A, Berry Ian, Simmonds Jennifer, Vasudevan Pradeep, O'Callaghan Chris, Hirst Robert A, Rutman Andrew, Huang Lijia, Hartley Taila, Grynspan David, Moya Eduardo, Li Chunmei, Carr Ian M, Bonthron David T, Leroux Michel, Boycott Kym M, Bastin Philippe, Sheridan Eamonn G

CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function

CDKL家族激酶进化出了独特的结构特征和纤毛功能

Canning, Peter; Park, Kwangjin; Gonçalves, João; Li, Chunmei; Howard, Conor J; Sharpe, Timothy D; Holt, Liam J; Pelletier, Laurence; Bullock, Alex N; Leroux, Michel R

Role for intraflagellar transport in building a functional transition zone

鞭毛内运输在构建功能性过渡区中的作用

Jensen, Victor L; Lambacher, Nils J; Li, Chunmei; Mohan, Swetha; Williams, Corey L; Inglis, Peter N; Yoder, Bradley K; Blacque, Oliver E; Leroux, Michel R

Genes and molecular pathways underpinning ciliopathies

纤毛病相关的基因和分子通路

Reiter, Jeremy F; Leroux, Michel R

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

纤毛过渡区的MKS5和CEP290依赖性组装途径

Li, Chunmei; Jensen, Victor L; Park, Kwangjin; Kennedy, Julie; Garcia-Gonzalo, Francesc R; Romani, Marta; De Mori, Roberta; Bruel, Ange-Line; Gaillard, Dominique; Doray, Bérénice; Lopez, Estelle; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel; Reiter, Jeremy F; Blacque, Oliver E; Valente, Enza Maria; Leroux, Michel R