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Russ Ferland, Ph.D.

Professor

Chair, Biomedical Sciences

Location

Stella Maris Hall 331
澳客网官网首页 Campus

澳客网官网研究的长期目标是更好地理解分子, genetic, 以及引起神经发育和神经紊乱的细胞机制. Overall, 我的研究兴趣主要在于大脑发育障碍和神经系统疾病的研究, and specifically involve the following areas of investigation:

1) functional analyses of AHI1 and CSPP1澳客网官网在Joubert综合征患者身上绘制并克隆了这两个新基因(Ferland et al., Nature Genetics, 2004; Doering et al., J. Comp. Neurol., 2008; Hsiao et al., Hum. Mol. Genet., 2009; Westfall et al., J. Neurosci., 2010; Tuz et al., J. Biol. Chem., 2013; Tuz et al., Am. J. Hum. Genet., 2014; Bourgeois and Ferland, Dev. Biol., 2019; Munoz and Ferland, J. Cell Sci., 2019; Hsiao et al., J. Neurosci., 2021),

2)发育和疾病中初级非运动纤毛的形成和功能(Hsiao et al .)., Hum. Mol. Genet., 2009; Westfall et al., J. Neurosci., 2010; Hsiao et al., Cilia, 2012; Tuz et al., J. Biol. Chem., 2013; Tuz et al., Am. J. Hum. Genet., 2014; Hua and Ferland, Cilia, 2017; Hua and Feland, Cell. Mol. Life Sci., 2018; Hua and Ferland, Bioessays, 2018; Bourgeois and Ferland, Dev. Biol., 2019; Munoz and Ferland, J. Cell Sci., 2019; Hsiao et al., J. Neurosci., 2021),

3) genetic and neuroanatomical mechanisms of seizure threshold, seizure propagation,  epileptogenesis, and Sudden Unexplained Death in Epilepsy (SUDEP) (Ferland et al., G3 Genes, Genom. Genet, 2017; Ferland, 2017; Loscher, Ferland, and Ferraro, Epilepsy and Behavior, 2017; Kadiyala et al., J. Neurosci., 2016; Kadiyala et al., Epil. Res., 2015; Kadiyala et al., PLoS ONE, 2014; Papandrea et al., Exp. Neurol., 2009; Papandrea et al., Epil. Res., 2009; Ferland et al, 1998a,b,c, 1999, 2002a,b, 2003).
 

Credentials

Education

MS, Neuroscience
University of Rochester Medical School
1998
PhD, Neuroscience
University of Rochester Medical School
2000

Post-Doctoral Training

Post-Doctoral Training, Neurogenetics/Neurodevelopment
Harvard Medical School & Howard Hughes Medical Institute (Boston, Massachusetts)

Research

Selected publications

Hsiao YC, Muñoz-Estrada J, Tuz K, Ferland RJ. 过渡区蛋白AHI1调节MCHR1的神经纤毛转运及其下游信号通路. J. Neurosci., 41(17):3932-3943, 2021.

Srinivasan A, Srinivasan A, Ferland RJ. AutoSholl allows for automation of Sholl analysis independent of user tracing. J Neurosci Methods, 331:1-6, 2020. Source code & compiled version of the algorithm are available at: http://github.com/ferlandlab/AutoSholl

Muñoz-Estrada J and Ferland RJ. Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration. Journal of Cell Science, 132(17): 1-18, 2019.

Bourgeois JR and Ferland RJ.  Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, 与中枢神经系统无关,可导致运动和肌肉发育延迟. Developmental Biology, 448(1): 36-47, 2019.

Hua K and Ferland RJ. 在纤毛病的背景下重新考虑初级纤毛:纤毛蛋白的毛外和纤毛功能集中在一个极性主题上? Bioessays, 40, 1700132, 1-11, 2018.

  • This work was highlighted in F1000Prime, 5 Dec, 2018.  

Hua K and Ferland RJ. Primary cilia proteins: ciliary and extraciliary sites and functions Cell. Mol. Life Sci., 75:1521–1540, 2018.

Kaskow BJ, Buttrick TS, Klein H-U, White C, Bourgeois JR, Ferland RJ, Patsopoulos N, Bradshaw EM, De Jager PL, Elyaman W. Multiple sclerosis AHI1 genetic risk promotes IFNγ+ CD4+ T cells. Neurology: Neuroimmunology & Neuroinflammation, 5 (1): 1-10 (e414), 2018.

斯里尼瓦桑A, Muñoz-Estrada J,布尔乔亚JR, Nalwalk J, Pumiglia K, Sheen V, Ferland RJ. BranchAnalysis2D/3D automates morphometry analyses of branching structures. J Neurosci Methods, 294:1-6, 2018. Source code & compiled version of the algorithm are available at: http://github.com/ferlandlab/BranchAnalysis2D-3D

Ferland RJ. The repeated flurothyl seizure model in mice. Invited submission.  Bio-Protocol, 7(11):1-12, 2017.  DOI:10.21769/BioProtoc.2309.

Löscher W, Ferland RJ, Ferraro TN. 小鼠和大鼠株间和株内差异的相关性及其对癫痫和癫痫模型的影响. Epilepsy Behav., 73: 214-235, 2017.

Ferland RJ, Smith J, Papandrea D, Gracias J, Haines L, Kadiyala SB, O'Brien B, Kang EY, Beyer B, Herron BJ. 在杂交小鼠多样性面板中反复发作的多维遗传分析揭示了一个新的癫痫发生易感性位点. G3 Genes Genom. Genet., 7(8): 2545-2558, 2017.

Hua K and Ferland RJ. Fixation methods can differentially affect ciliary protein immunolabeling. Cilia, 6;5: pp. 1-17, 2017. 

Kadiyala SB and Ferland RJ. 暴露于八种氟甲基诱发的全身性癫痫的小鼠自发性癫痫发作和脑干癫痫发作阈值的解离. Epilepsia Open, 2(1): 48-58, 2017.

Kadiyala SB, Yannix JQ, Nalwalk JW, Papandrea D, Beyer BS, Herron BJ, Ferland RJ. 八氟甲基诱发的全身性癫痫发作导致小鼠自发性癫痫发作的快速进化:癫痫发生与癫痫缓解的模型. J. Neurosci., 36(28): 7485-7496, 2016.

Kadiyala SB, Papandrea D, Tuz K, Anderson TM, Jayakumara S, Herron BJ, Ferland RJ. 氟甲基诱发癫痫发作后C57BL/6J和DBA/2J小鼠c-fos通路的时空差异:海马Fos与癫痫发作活动的分离. Epilepsy Res., 109:183-196, 2015.

Hu J, Lu J, Lian G, Ferland RJ, Dettenhofer M, Sheen VL. Formin 1和Filamin B在生长板中相互作用以协调软骨细胞的增殖和分化. Hum. Mol. Genet., 23(17):4663-4673, 2014.

Kadiyala SB, Papandrea D, Herron BJ, Ferland RJ. 用重复氟酰模型分离C57黑鼠亚株的发作性状. PLoS ONE 9(3): e90506, 2014.

Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. CSPP1突变导致原发性纤毛异常和Joubert综合征伴或不伴Jeune窒息性胸营养不良. Am. J. Hum. Genet., 94(1): 62–72, 2014.

Tuz K, Hsiao YC, Juarez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ. Abelson-helper整合位点1 (AHI1)蛋白的Joubert综合征相关错义突变(V443D)改变了其定位和蛋白-蛋白相互作用. J. Biol. Chem., 288(19):13676-94, 2013.

Bhoiwala DL, Koleilat I, Qian J, Beyer B, Hushmendy SF, Mathew A, Bhoiwala DL, Ferland RJ, Crawford DR. 小鼠神经元中RCAN1亚型4的过表达导致中度行为障碍. Neurol. Res., 35(1):79-89, 2013.

Zhang J, Neal J, Lian G, Shi B, Ferland RJ, Sheen VL. Brefeldin A抑制的鸟嘌呤交换因子2调节丝素A磷酸化和神经元迁移. J. Neurosci., 32(36):12619-12629, 2012.

Lian G, Lu J, Hu J, Zhang J, Cross SH, Ferland RJ, Sheen VL. 丝素A通过wee1依赖的Cdk1磷酸化调节神经祖细胞增殖和大脑大小. J. Neurosci., 32(22):7672-84, 2012.

Hsiao Y-C, Tuz K, Ferland RJ, Trafficking in and to the primary cilium. Cilia, 1:4 (1-13), 2012

韦斯福尔(Doering) JE,霍伊特C,刘强,肖永昌,皮尔斯EA,佩-麦考PS,费兰RJ. Joubert综合征基因靶向缺失小鼠视网膜退化和光感受器外段形成失败, Ahi1. J. Neurosci., 30(26):8759-8768, 2010.

Papandrea D, Kukol WS, Anderson TM, Herron BJ, Ferland RJ. Analysis of flurothyl-induced myoclonus in inbred strains of mice. Epil. Res., 87:130-136, 2009.

Hsiao Y-C, Tong ZJ, Westfall (Doering) JE, Ault JG, Page-McCaw PS, Ferland RJ. Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for proper localization of Rab8a, ciliogenesis, and vesicular trafficking. Hum. Mol. Genet., 18(20):3926-3941, 2009.

Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao Y-C, Diamond R, Mei D, Banham A, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL. 心室周围异位中沿心室和心室下区神经祖细胞的破坏. Hum. Mol. Genet., 18(3):497-516, 2009.

Papandrea D, Anderson TM, Herron BJ, Ferland RJ. 利用氟醚基癫痫发生模型在小鼠近交系中癫痫性状的遗传解离. Exp. Neurol., 215:60-68, 2009.

Morrow EM, Yoo S-Y, Flavell SW, Kim T-K, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA. Identifying autism loci and genes by tracing recent shared ancestry. Science, 321:218-223, 2008.

  • This work was highlighted in F1000 Prime, 31 Jul 2008.

Doering JE, Kane K, Hsiao Y-C, Yao C, Shi B, Slowik A, Dhagat B, Scott D, Ault JG, Page-McCaw PS, Ferland RJ. Species differences in the expression of AHI1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. J. Comp. Neurol., 511:238-256, 2008.

Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, and Walsh CA. Joubert综合征中由于AHI1突变导致的小脑发育异常和轴突交叉. Nature Genet., 36:1008-1013, 2004.

Other scholarly activity

Book Chapters:

Löscher W, Ferland RJ, Ferraro TN. Strain effects on expression of seizures and epilepsy. 见:癫痫发作和癫痫模型,第二版,剑桥:文献出版社(2017)页. 21-38.  ISBN 9780128040669

Hua K, Bourgeois JR, Ferland RJ. Joubert syndrome. 参考模块在神经科学和生物行为心理学,爱思唯尔(2017)页. 1-8.   ISBN 9780128093245

Ferland RJ, Walsh CA. Joubert综合征的遗传学:对大脑后中线发育的洞察.  In: Squire, LR (Ed.) Encyclopedia of Neuroscience.  San Diego: Academic Press (2009) pp. 249-256.

Applegate CD, Burchfiel JL, Ferland RJ, Nierenberg J.   The role of rhinencephalic networks in the late stages of kindling.  In: Corcoran, M and Moshe, S (Eds.) Kindling 5.  New York: Raven Press  (1998)  pp. 151-165.

Invited Editorials:

Ferland RJ and Guerrini R.  Nodular heterotopia is built upon layers. Neurology, 73: 742-743, 2009.

Ferland R and Hua K. Referee Report For: Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles [version 1; referees: 2 approved] F1000Research 2015, 4:590 (doi: 10.5256/f1000research.7495.r10185)

Hua K and Ferland RJ. 初级纤毛:发信号的毛发样细胞器的故事变得更加复杂. Atlas of science, 2019. http://atlasofscience.org/primary-cilia-the-story-of-the-hair-like-organelle-that-signals-just-became-more-complicated/

Research topics

Biosignaling
Brain
COM Faculty Research
Development
Developmental Biology
Gene Expression
Neural Stem Cell
Neuroscience

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