Search Results - "Glass, Ian A"

A human cell atlas of fetal gene expression by Cao, Junyue, O'Day, Diana R, Pliner, Hannah A, Kingsley, Paul D, Deng, Mei, Daza, Riza M, Zager, Michael A, Aldinger, Kimberly A, Blecher-Gonen, Ronnie, Zhang, Fan, Spielmann, Malte, Palis, James, Doherty, Dan, Steemers, Frank J, Glass, Ian A, Trapnell, Cole, Shendure, Jay

“…The gene expression program underlying the specification of human cell types is of fundamental interest. We generated human cell atlases of gene expression and…”
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A human cell atlas of fetal chromatin accessibility by Domcke, Silvia, Hill, Andrew J, Daza, Riza M, Cao, Junyue, O'Day, Diana R, Pliner, Hannah A, Aldinger, Kimberly A, Pokholok, Dmitry, Zhang, Fan, Milbank, Jennifer H, Zager, Michael A, Glass, Ian A, Steemers, Frank J, Doherty, Dan, Trapnell, Cole, Cusanovich, Darren A, Shendure, Jay

“…The chromatin landscape underlying the specification of human cell types is of fundamental interest. We generated human cell atlases of chromatin accessibility…”
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In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution by Miller, Alyssa J., Yu, Qianhui, Czerwinski, Michael, Tsai, Yu-Hwai, Conway, Renee F., Wu, Angeline, Holloway, Emily M., Walker, Taylor, Glass, Ian A., Treutlein, Barbara, Camp, J. Gray, Spence, Jason R.

“…Bud tip progenitor cells give rise to all murine lung epithelial lineages and have been described in the developing human lung; however, the mechanisms…”
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Molecular Anatomy of the Developing Human Retina by Hoshino, Akina, Ratnapriya, Rinki, Brooks, Matthew J., Chaitankar, Vijender, Wilken, Matthew S., Zhang, Chi, Starostik, Margaret R., Gieser, Linn, La Torre, Anna, Nishio, Mario, Bates, Olivia, Walton, Ashley, Bermingham-McDonogh, Olivia, Glass, Ian A., Wong, Rachel O.L., Swaroop, Anand, Reh, Thomas A.

“…Clinical and genetic heterogeneity associated with retinal diseases makes stem-cell-based therapies an attractive strategy for personalized medicine. However,…”
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Spatial and cell type transcriptional landscape of human cerebellar development by Aldinger, Kimberly A., Thomson, Zachary, Phelps, Ian G., Haldipur, Parthiv, Deng, Mei, Timms, Andrew E., Hirano, Matthew, Santpere, Gabriel, Roco, Charles, Rosenberg, Alexander B., Lorente-Galdos, Belen, Gulden, Forrest O., O’Day, Diana, Overman, Lynne M., Lisgo, Steven N., Alexandre, Paula, Sestan, Nenad, Doherty, Dan, Dobyns, William B., Seelig, Georg, Glass, Ian A., Millen, Kathleen J.

“…The human neonatal cerebellum is one-fourth of its adult size yet contains the blueprint required to integrate environmental cues with developing motor,…”
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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum by Haldipur, Parthiv, Aldinger, Kimberly A, Bernardo, Silvia, Deng, Mei, Timms, Andrew E, Overman, Lynne M, Winter, Conrad, Lisgo, Steven N, Razavi, Ferechte, Silvestri, Evelina, Manganaro, Lucia, Adle-Biassette, Homa, Guimiot, Fabien, Russo, Rosa, Kidron, Debora, Hof, Patrick R, Gerrelli, Dianne, Lindsay, Susan J, Dobyns, William B, Glass, Ian A, Alexandre, Paula, Millen, Kathleen J

“…We present histological and molecular analyses of the developing human cerebellum from 30 days after conception to 9 months after birth. Differences in…”
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Recessive mutations in >VPS13D cause childhood onset movement disorders by Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H., Rodan, Lance H., Karamchandani, Jason, Carecchio, Miryam, Lubbe, Steven J., Telegrafi, Aida, Henderson, Lindsay B., Lorenzo, Kerry, Wallace, Stephanie E., Glass, Ian A., Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy A., Campeau, Philippe M.

“…VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of…”
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Unified rhombic lip origins of group 3 and group 4 medulloblastoma by Smith, Kyle S., Bihannic, Laure, Gudenas, Brian L., Haldipur, Parthiv, Tao, Ran, Gao, Qingsong, Li, Yiran, Aldinger, Kimberly A., Iskusnykh, Igor Y., Chizhikov, Victor V., Scoggins, Matthew, Zhang, Silu, Edwards, Angela, Deng, Mei, Glass, Ian A., Overman, Lynne M., Millman, Jake, Sjoboen, Alexandria H., Hadley, Jennifer, Golser, Joseph, Mankad, Kshitij, Sheppard, Heather, Onar-Thomas, Arzu, Gajjar, Amar, Robinson, Giles W., Hovestadt, Volker, Orr, Brent A., Patay, Zoltán, Millen, Kathleen J., Northcott, Paul A.

“…Medulloblastoma, a malignant childhood cerebellar tumour, segregates molecularly into biologically distinct subgroups, suggesting that a personalized approach…”
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A Single-Cell Roadmap of Lineage Bifurcation in Human ESC Models of Embryonic Brain Development by Yao, Zizhen, Mich, John K., Ku, Sherman, Menon, Vilas, Krostag, Anne-Rachel, Martinez, Refugio A., Furchtgott, Leon, Mulholland, Heather, Bort, Susan, Fuqua, Margaret A., Gregor, Ben W., Hodge, Rebecca D., Jayabalu, Anu, May, Ryan C., Melton, Samuel, Nelson, Angelique M., Ngo, N. Kiet, Shapovalova, Nadiya V., Shehata, Soraya I., Smith, Michael W., Tait, Leah J., Thompson, Carol L., Thomsen, Elliot R., Ye, Chaoyang, Glass, Ian A., Kaykas, Ajamete, Yao, Shuyuan, Phillips, John W., Grimley, Joshua S., Levi, Boaz P., Wang, Yanling, Ramanathan, Sharad

“…During human brain development, multiple signaling pathways generate diverse cell types with varied regional identities. Here, we integrate single-cell RNA…”
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Prospective Evaluation of Kidney Disease in Joubert Syndrome by Fleming, Leah R, Doherty, Daniel A, Parisi, Melissa A, Glass, Ian A, Bryant, Joy, Fischer, Roxanne, Turkbey, Baris, Choyke, Peter, Daryanani, Kailash, Vemulapalli, Meghana, Mullikin, James C, Malicdan, May Christine, Vilboux, Thierry, Sayer, John A, Gahl, William A, Gunay-Aygun, Meral

“…Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations…”
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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium by Lee, Ji Eun, Silhavy, Jennifer L, Zaki, Maha S, Schroth, Jana, Bielas, Stephanie L, Marsh, Sarah E, Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M, Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V, Glass, Ian A, Cluckey, Andrew, Louie, Carrie M, Lee, Jeong Ho, Raynes, Hilary R, Rapin, Isabelle, Castroviejo, Ignacio P, Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F, Hildebrandt, Friedhelm, Johnson, Colin A, Doherty, Daniel A, Valente, Enza Maria, Gleeson, Joseph G

“…Joseph Gleeson and colleagues identify CEP41 mutations as a cause of Joubert syndrome. Their functional studies suggest that CEP41 regulates ciliary entry of…”
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Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy by Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G., Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J., Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E., Glass, Ian A., Shendure, Jay, Neuhauss, Stephan C.F., Haldeman-Englert, Chad R., Doherty, Dan, Ferland, Russell J.

“…Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic…”
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Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation by Haldipur, Parthiv, Bernardo, Silvia, Aldinger, Kimberly A., Sivakumar, Tarika, Millman, Jake, Sjoboen, Alexandria H., Dang, Derek, Dubocanin, Danilo, Deng, Mei, Timms, Andrew E., Davis, Brian D., Plummer, Jasmine T., Mankad, Kshitij, Oztekin, Ozgur, Manganaro, Lucia, Guimiot, Fabien, Adle-Biassette, Homa, Russo, Rosa, Siebert, Joseph R., Kidron, Debora, Petrilli, Giulia, Roux, Nathalie, Razavi, Ferechte, Glass, Ian A., Di Gioia, Cira, Silvestri, Evelina, Millen, Kathleen J.

“…Dandy–Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound…”
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PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice by Roy, Achira, Murphy, Rory M, Deng, Mei, MacDonald, James W, Bammler, Theo K, Aldinger, Kimberly A, Glass, Ian A, Millen, Kathleen J

“…Mechanisms driving the initiation of brain folding are incompletely understood. We have previously characterized mouse models recapitulating human -related…”
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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome by Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.

“…Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with…”
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome by Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M

“…Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber…”
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Differences in Oral Structure and Tissue Interactions during Mouse vs. Human Palatogenesis: Implications for the Translation of Findings from Mice by Yu, Kai, Deng, Mei, Naluai-Cecchini, Theresa, Glass, Ian A, Cox, Timothy C

“…Clefting of the secondary palate is one of the most common human birth defects and results from failure of the palatal shelves to fuse during embryonic…”
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Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease by Chen, Ying-Zhang, Hashemi, Sayed H., Anderson, Susan K., Huang, Yongzhao, Moreira, Maria-Ceu, Lynch, David R., Glass, Ian A., Chance, Phillip F., Bennett, Craig L.

“…A severe recessive cerebellar ataxia, Ataxia-Oculomotor Apraxia 2 (AOA2) and a juvenile onset form of dominant amyotrophic lateral sclerosis (ALS4) result from…”
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Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes by Gleeson, Joseph G., Keeler, Lesley C., Parisi, Melissa A., Marsh, Sarah E., Chance, Phillip F., Glass, Ian A., Graham Jr, John M., Maria, Bernard L., Barkovich, A. James, Dobyns, William B.

“…The Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal‐oriented superior cerebellar peduncles; and absent…”
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Charting human development using a multi-endodermal organ atlas and organoid models by Yu, Qianhui, Kilik, Umut, Holloway, Emily M., Tsai, Yu-Hwai, Harmel, Christoph, Wu, Angeline, Wu, Joshua H., Czerwinski, Michael, Childs, Charlie J., He, Zhisong, Capeling, Meghan M., Huang, Sha, Glass, Ian A., Higgins, Peter D.R., Treutlein, Barbara, Spence, Jason R., Camp, J. Gray

“…Organs are composed of diverse cell types that traverse transient states during organogenesis. To interrogate this diversity during human development, we…”
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