Search Results - "Davis, Erica E"

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease by Gerdes, Jantje M., Davis, Erica E., Katsanis, Nicholas

“…Cilia are complex structures that have garnered interest because of their roles in vertebrate development and their involvement in human genetic disorders. In…”
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Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae by Chen, Chuyi, Gu, Yuyang, Philippe, Julien, Zhang, Peiran, Bachman, Hunter, Zhang, Jinxin, Mai, John, Rufo, Joseph, Rawls, John F., Davis, Erica E., Katsanis, Nicholas, Huang, Tony Jun

“…Modern biomedical research and preclinical pharmaceutical development rely heavily on the phenotyping of small vertebrate models for various diseases prior to…”
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome by Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas

“…Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which has been identified through…”
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The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia by Gherman, Adrian, Davis, Erica E, Katsanis, Nicholas

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The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes by Hall, Gentzon, Lane, Brandon M, Khan, Kamal, Pediaditakis, Igor, Xiao, Jianqiu, Wu, Guanghong, Wang, Liming, Kovalik, Maria E, Chryst-Stangl, Megan, Davis, Erica E, Spurney, Robert F, Gbadegesin, Rasheed A

“…We previously reported that mutations in the anillin ( ) gene cause familial forms of FSGS. ANLN is an F-actin binding protein that modulates podocyte cell…”
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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome by Niihori, Tetsuya, Nagai, Koki, Fujita, Atsushi, Ohashi, Hirofumi, Okamoto, Nobuhiko, Okada, Satoshi, Harada, Atsuko, Kihara, Hirotaka, Arbogast, Thomas, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Abe, Taiki, Inoue, Shin-ichi, Tsai, I-Chun, Matsumoto, Naomichi, Davis, Erica E., Katsanis, Nicholas, Aoki, Yoko

“…Noonan syndrome (NS) is characterized by distinctive craniofacial appearance, short stature, and congenital heart disease. Approximately 80% of individuals…”
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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome by Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas

“…Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic…”
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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans by Brooks, Susan S, Wall, Alissa L, Golzio, Christelle, Reid, David W, Kondyles, Amalia, Willer, Jason R, Botti, Christina, Nicchitta, Christopher V, Katsanis, Nicholas, Davis, Erica E

“…Neurodevelopmental defects in humans represent a clinically heterogeneous group of disorders. Here, we report the genetic and functional dissection of a…”
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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry by Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut

“…The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the…”
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Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects by Hutson, Mary R, Keyte, Anna L, Hernández-Morales, Miriam, Gibbs, Eric, Kupchinsky, Zachary A, Argyridis, Ioannis, Erwin, Kyle N, Pegram, Kelly, Kneifel, Margaret, Rosenberg, Paul B, Matak, Pavle, Xie, Luke, Grandl, Jörg, Davis, Erica E, Katsanis, Nicholas, Liu, Chunlei, Benner, Eric J

“…Birth defects of the heart and face are common, and most have no known genetic cause, suggesting a role for environmental factors. Maternal fever during the…”
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In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress by Anderson, Blair R, Howell, David N, Soldano, Karen, Garrett, Melanie E, Katsanis, Nicholas, Telen, Marilyn J, Davis, Erica E, Ashley-Koch, Allison E

“…African Americans have a disproportionate risk for developing nephropathy. This disparity has been attributed to coding variants (G1 and G2) in apolipoprotein…”
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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone by Roberson, Elle C, Dowdle, William E, Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R, Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D, Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A, Saunier, Sophie, Otto, Edgar A, Katsanis, Nicholas, Davis, Erica E, Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R, Reiter, Jeremy F

“…The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary…”
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Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants by Khan, Sheraz, Focșa, Ina Ofelia, Budișteanu, Magdalena, Stoica, Cristina, Nedelea, Florina, Bohîlțea, Laurențiu, Caba, Lavinia, Butnariu, Lăcrămioara, Pânzaru, Monica, Rusu, Cristina, Jurcă, Claudia, Chirita‐Emandi, Adela, Bănescu, Claudia, Abbas, Wasim, Sadeghpour, Azita, Baig, Shahid Mahmood, Bălgrădean, Mihaela, Davis, Erica E.

“…Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare…”
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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type by Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde

“…Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic…”
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Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry by Kinzel, Doris, Boldt, Karsten, Davis, Erica E., Burtscher, Ingo, Trümbach, Dietrich, Diplas, Bill, Attié-Bitach, Tania, Wurst, Wolfgang, Katsanis, Nicholas, Ueffing, Marius, Lickert, Heiko

“…A variety of developmental disorders have been associated with ciliary defects, yet the controls that govern cilia disassembly are largely unknown. Here we…”
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Zebrafish knockout of Down syndrome gene, DYRK1A , shows social impairments relevant to autism by Kim, Oc-Hee, Cho, Hyun-Ju, Han, Enna, Hong, Ted Inpyo, Ariyasiri, Krishan, Choi, Jung-Hwa, Hwang, Kyu-Seok, Jeong, Yun-Mi, Yang, Se-Yeol, Yu, Kweon, Park, Doo-Sang, Oh, Hyun-Woo, Davis, Erica E, Schwartz, Charles E, Lee, Jeong-Soo, Kim, Hyung-Goo, Kim, Cheol-Hee

“…maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either…”
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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis by Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E

“…Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. The goals of this work are to describe a…”
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Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development by Qiu, Yuqi, Arbogast, Thomas, Lorenzo, Sandra Martin, Li, Hongying, Tang, Shih C., Richardson, Ellen, Hong, Oanh, Cho, Shawn, Shanta, Omar, Pang, Timothy, Corsello, Christina, Deutsch, Curtis K., Chevalier, Claire, Davis, Erica E., Iakoucheva, Lilia M., Herault, Yann, Katsanis, Nicholas, Messer, Karen, Sebat, Jonathan

“…A copy-number variant (CNV) of 16p11.2 encompassing 30 genes is associated with developmental and psychiatric disorders, head size, and body mass. The genetic…”
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network by Chassaing, Nicolas, Davis, Erica E, McKnight, Kelly L, Niederriter, Adrienne R, Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C, Faguer, Stanislas, Calvas, Patrick

“…Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7…”
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Ectopic Expression of Retrotransposon-Derived PEG11/RTL1 Contributes to the Callipyge Muscular Hypertrophy by Xu, Xuewen, Ectors, Fabien, Davis, Erica E, Pirottin, Dimitri, Cheng, Huijun, Farnir, Frédéric, Hadfield, Tracy, Cockett, Noelle, Charlier, Carole, Georges, Michel, Takeda, Haruko

“…The callipyge phenotype is an ovine muscular hypertrophy characterized by polar overdominance: only heterozygous +Mat/CLPGPat animals receiving the CLPG…”
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