顶级国产视频

• Neuroscience
• Bioengineering
• Inherited Neurodevelopmental Diseases of Amish and Mennonite Children

Mathiowetz AJ, Baple E, Russo AJ, Coulter AM, Carrano E, Brown JD, Jinks RN, Crosby AH, Campellone KG. 2017. An Amish founder mutation disrupts a PI(3)P-WHAM-Arp2/3 complex-driven autophagosomal remodelingpathway. Mol Biol Cell 19:2492-2507.

Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. 2017. Genomic diagnostics within a medically underserved population: efficacy and implications. Genetics in Medicine.

Di Donato N, Jean YY, Murat Maga A, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. 2016. Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. The American Journal of Human Genetics 99:1117-1129.

Jinks RN,  Puffenberger EG,  Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher M, Smith J, Tran L, Al Turki S,Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, and Strauss KA. 2015. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138: 2173鈥�2190.  Impact factor 鈥� 10.846

Strauss KA#, Jinks RN#, Puffenberger EG#, Venkatesh S, Singh K,Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A,Trovillion V,McGlincy M, Morlet T, Deardorff M,Innes AM, Prasad C, Chudley A, Lee I and Suzuki CK. 2015. CODAS syndrome is associated with mutations of LONP1 encoding mitochondrial AAA+ Lon     protease. American Journal of Human Genetics 96: 121-135. #Equal contributors. Impact factor 鈥� 10.987

Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR, Heaps A, Tian Y,Chakravarti A, Bucan M, and Puffenberger EG. 2014. A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Human Molecular Genetics 23: 6395-6406. PMCID: PMC4222358.

Morlet T, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, Zhu A, Yoo E, O'Reilly RC, Jinks RN, Puffenberger EG, Heaps A, Morton H, and Strauss KA. 2014.  A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.  Laryngoscope 124: E95-103. PMCID: PMC3925201.

Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH and Strauss KA. 2012b. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Human Mutation 33: 1639鈥�1646. PMID: 23065719.

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, DiPiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, and Strauss KA. 2012a.  PLoS One. 7(1):e28936. Epub 2012 Jan 17. PubMed PMID: 22279524; PubMed Central PMCID: PMC3260153. 鈥� 13,428 views online; cited 42 times (as of 5/1/15).

Runyon SL, Washicosky KJ, Brenneman RJ, Kelly JR, Khadilkar RV, Heacock KF, McCormick SM, Williams KE, and Jinks RN. 2004. Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. II. Octopamine acts via adenylate cyclase/cAMP-dependent protein kinase to prime the retina for transient rhabdom shedding.  Visual Neuroscience 21: 749-763.

Dalal JS, Jinks RN, Cacciatore C, Greenberg RM and Battelle B-A. 2003.  Limulus opsins: diurnal regulation of expression.  Visual Neuroscience 20: 523-534.

Dabdoub A, Jinks RN, Wang Y, Battelle B-A and  Payne R. 2003. Desensitization of the photoresponse in Limulus ventral photoreceptors by protein kinase C preceeds rhabdomere disorganization and endocytosis. Visual Neuroscience 20: 241-248.

Jinks RN, Markley TL, Taylor EE, Perovich G, Dittel AI, Epifanio CE and Cronin TW. 2002.  Adaptive visual metamorphosis in a deep-sea hydrothermal vent crab.  Nature 420: 68-70.

Khadilkar RV, Mytinger JR, Thomason LE, Runyon SL, Washicosky KJ, and Jinks RN. 2002. Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. I. Octopamine primes the retina for daily transient rhabdom shedding.  Visual Neuroscience 19: 283-297.

Dabdoub A, Payne R and  Jinks RN. 2002. Protein kinase C-induced disorganization and endocytosis of photosensitive membrane in Limulus photoreceptors. Journal of Comparative Neurology 442: 217-225.

Cronin TW and  Jinks RN. 2001. Ontogeny of vision in marine crustaceans. American Zoologist 41: 1098-1107.

Jinks RN, Battelle B-A, Herzog ED, Kass L, Renninger GH, and Chamberlain SC. 1998.  Sensory adaptations in hydrothermal vent shrimp from the Mid-Atlantic Ridge. Cahiers de Biologie Marine. 39: 309-312.

Lakin RC, Jinks RN, Battelle B-A, Herzog ED, Kass L, Renninger GH and Chamberlain SC. 1997.  Retinal anatomy of Chorocaris chacei, a deep-sea hydrothermal vent shrimp from the Mid-Atlantic Ridge. Journal of Comparative Neurology 385: 503-514.

Wharton DN, Jinks RN, Herzog ED, Battelle B-A, Kass L, Renninger GH and Chamberlain SC. 1997.  Morphology of the eye of the hydrothermal vent shrimp, Alvinocaris markensis. Journal of the Marine Biological Association of the United Kingdom 77: 1097.

Kuenzler RO, Kwasniewski JT, Jinks RN, Lakin RC, Battelle B-A, Herzog ED, Kass L, Renninger GH, and Chamberlain SC. 1997.  Retinal anatomy of new bresiliid shrimp from Lucky Strike and Broken Spur on the Mid-Atlantic Ridge. Journal of the Marine Biological Association of the United Kingdom 77: 707-725.

Jinks RN, White RH & Chamberlain SC. 1996. Dawn, diacylglycerol, calcium, and protein kinase C鈥攖he retinal wrecking crew. A signal transduction cascade for rhabdom shedding in the Limulus eye.  Journal of Photochemistry and Photobiology B: Biology 35: 45-52.

Nuckley DJ, Jinks RN, Battelle B-A, Herzog ED, Kass L, Renninger GH, and Chamberlain SC.  1996.  Retinal anatomy of a new species of bresiliid shrimp from a hydrothermal vent site on the Mid-Atlantic Ridge.  Biological Bulletin 190: 98-110.

Reninger GH, Kass L, Gleeson RA, Van Dover CL, Battelle B-A, Jinks RN, Herzog ED, and Chamberlain SC. 1995.  Sulfide as a chemical stimulus for deep-sea hydrothermal vent shrimp.  Biological Bulletin 189: 69-76.

翱鈥橬别颈濒濒&苍产蝉辫;笔闯, Jinks RN, Herzog ED, Battelle B-A, Kass L, Renninger GH, and Chamberlain SC.  1995.  The morphology of the dorsal eye of the hydrothermal vent shrimp, Rimicaris exoculata.  Visual Neuroscience 12: 861-875.

Samie FH, Jinks RN, Weiner WW, and Chamberlain SC. 1995.  The morphology and physiology of a 鈥渕ini-ommatidium鈥� in the median optic nerve of Limulus polyphemus. Visual Neuroscience 12: 69-76.

Zhang H-J, Jinks RN, Wishart AC, Battelle B-A, Chamberlain SC, Fahrenbach WH and Kass L. 1994.  An enzymatically enhanced recording technique for Limulus ventral photoreceptors: Physiology, biochemistry, and morphology.  Visual Neuroscience 11: 41-52.

Jinks RN, Hanna WJB, Renninger GH, and Chamberlain SC. 1993. Photoreceptor cells dissociated from the compound lateral eye of the horseshoe crab, Limulus polyphemus. I. Structure and ultrastructure.  Visual Neuroscience 10: 597-607.