Stephan C Collins相关文献与解析，生知库

Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hame

神经

FlowCytometry

Mouse

CD278

发表日期：2025

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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

KPTN 相关疾病模型表明 mTOR 信号传导与认知和过度生长表型有关

期刊:Brain

影响因子:10.6

doi:10.1093/brain/awad231

Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Stephen J Sawiak, Phillip H Iffland 2nd, Malin H L Andersson, Caleb Bupp, Emma L Cambridge, Eve L Coomber, Ian Ellis, Johanna C Herkert, Holly Ironfield, Logan Jory, Perrine F Kretz, Sarina G Kant, Alexan

Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

解剖与自闭症相关的 16p11.2 基因座可识别神经解剖表型中的多个驱动因素，并揭示主要穹窿蛋白的男性特异性作用

期刊:Genome Biology

影响因子:10.1

doi:10.1186/s13059-023-03092-8

Perrine F Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie-Christine Fischer, Maxence Milhau, Ipek Yalcin, Riccardo Brambilla, Mohammed Selloum, Yann Herault, Alexandre Reymond, Stephan C Collins, Binnaz Yalcin

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

突触支架蛋白Dlgap4在皮层发育过程中对脑室表面完整性和神经元迁移的新作用

期刊:Nature Communications

影响因子:14.7

doi:10.1038/s41467-022-30443-z

Delfina M Romero ，Karine Poirier ，Richard Belvindrah ，Imane Moutkine ，Anne Houllier ，Anne-Gaëlle LeMoing ，Florence Petit ，Anne Boland ，Stephan C Collins ，Mariano Soiza-Reilly ，Binnaz Yalcin ，Jamel Chelly ，Jean-François Deleuze ，Nadia Bahi-Buisson ，Fiona Francis

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

TRAPPC10 的双等位基因变异导致人类和小鼠患上小头畸形 TRAPP 病

期刊:PLoS Genetics

影响因子:

doi:10.1371/journal.pgen.1010114

Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, An

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

导致皮质畸形的 TUBG1 错义变异会破坏神经元运动和微管动力学，但不会影响神经发生

期刊:Nature Communications

影响因子:14.7

doi:10.1038/s41467-019-10081-8

Ekaterina L Ivanova, Johan G Gilet, Vadym Sulimenko, Arnaud Duchon, Gabrielle Rudolf, Karen Runge, Stephan C Collins, Laure Asselin, Loic Broix, Nathalie Drouot, Peggy Tilly, Patrick Nusbaum, Alexandre Vincent, William Magnant, Valerie Skory, Marie-Christine Birling, Guillaume Pavlovic, Juliette D G

The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia

Eml1 基因敲除小鼠的神经解剖学，皮层下异位症的模型

期刊:Journal of Anatomy

影响因子:1.8

doi:10.1111/joa.13013

Stephan C Collins, Ana Uzquiano, Mohammed Selloum, Olivia Wendling, Marion Gaborit, Maria Osipenko, Marie-Christine Birling, Binnaz Yalcin, Fiona Francis

神经

发表日期：2019

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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

免疫信号转导适配器 LAT 促成 16p11.2 BP2-BP3 CNV 的神经解剖表型

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2017.08.016

Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C Collins, Konstantin Popadin, Camille S Bonnet, Giuliana Giannuzzi, Anne M Maillard, Sébastien Jacquemont; 16p11.2 Consortium; Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond

Progression of diet-induced diabetes in C57BL6J mice involves functional dissociation of Ca2(+) channels from secretory vesicles

C57BL6J 小鼠饮食诱发的糖尿病进展涉及 Ca2(+) 通道与分泌囊泡的功能性分离

期刊:Diabetes

影响因子:6.2

doi:10.2337/db09-0791

Stephan C Collins, Michael B Hoppa, Jonathan N Walker, Stefan Amisten, Fernando Abdulkader, Martin Bengtsson, Jane Fearnside, Reshma Ramracheya, Ayo A Toye, Quan Zhang, Anne Clark, Dominique Gauguier, Patrik Rorsman

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

WDR47 中的双等位基因变异会导致复杂的神经发育综合征

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

KPTN 相关疾病模型表明 mTOR 信号传导与认知和过度生长表型有关

Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

解剖与自闭症相关的 16p11.2 基因座可识别神经解剖表型中的多个驱动因素，并揭示主要穹窿蛋白的男性特异性作用

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

突触支架蛋白Dlgap4在皮层发育过程中对脑室表面完整性和神经元迁移的新作用

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

TRAPPC10 的双等位基因变异导致人类和小鼠患上小头畸形 TRAPP 病

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

导致皮质畸形的 TUBG1 错义变异会破坏神经元运动和微管动力学，但不会影响神经发生

The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia

Eml1 基因敲除小鼠的神经解剖学，皮层下异位症的模型

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

免疫信号转导适配器 LAT 促成 16p11.2 BP2-BP3 CNV 的神经解剖表型

Progression of diet-induced diabetes in C57BL6J mice involves functional dissociation of Ca2(+) channels from secretory vesicles

C57BL6J 小鼠饮食诱发的糖尿病进展涉及 Ca2(+) 通道与分泌囊泡的功能性分离