Search Results - "Lidov, Hart G W"

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores by Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.

“…We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe…”
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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations by Lai, Dulcie, Gade, Meethila, Yang, Edward, Koh, Hyun Yong, Lu, Jinfeng, Walley, Nicole M, Buckley, Anne F, Sands, Tristan T, Akman, Cigdem I, Mikati, Mohamad A, McKhann, Guy M, Goldman, James E, Canoll, Peter, Alexander, Allyson L, Park, Kristen L, Von Allmen, Gretchen K, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Lidov, Hart G W, Vogel, Hannes, Grant, Gerald A, Porter, Brenda E, Poduri, Annapurna H, Crino, Peter B, Heinzen, Erin L

“…Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies,…”
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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia by Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G W, Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D

“…Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation,…”
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Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development by Li, Qun, Han, Zhiyuan, Singh, Navleen, Terré, Berta, Fame, Ryann M., Arif, Uzayr, Page, Thomas D., Zahran, Tasneem, Abdeltawab, Ahmed, Huang, Yuan, Cao, Ping, Wang, Jun, Lu, Hao, Lidov, Hart G. W., Surendran, Kameswaran, Wu, Lizhao, Virga, James Q., Zhao, Ying-Tao, Schüller, Ulrich, Wechsler-Reya, Robert J., Lehtinen, Maria K., Roy, Sudipto, Liu, Zhongmin, Stracker, Travis H., Zhao, Haotian

“…Multiciliated cells (MCCs) in the brain reside in the ependyma and the choroid plexus (CP) epithelia. The CP secretes cerebrospinal fluid that circulates…”
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy by Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel

“…DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin–glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice…”
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Differential neuronal vulnerability varies according to specific cardiopulmonary bypass insult in a porcine survival model by Ishibashi, Nobuyuki, MD, Iwata, Yusuke, MD, Okamura, Toru, MD, Zurakowski, David, PhD, Lidov, Hart G.W., MD, Jonas, Richard A., MD

“…Objective We investigated whether the degree of vulnerability of different areas in the developing brain varies according to the specific mechanism of the…”
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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States by Reddy, Hemakumar M, Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D, Mitsuhashi, Satomi, Darras, Basil T, Amato, Anthony A, Lidov, Hart Gw, Brownstein, Catherine A, Margulies, David M, Yu, Timothy W, Salih, Mustafa A, Kunkel, Louis M, MacArthur, Daniel G, Kang, Peter B

“…The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families…”
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Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE by Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart G W, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B

“…Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with…”
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Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons by Lidov, Hart G. W, Byers, Timothy J, Watkins, Simon C, Kunkel, Louis M

“…Moderate non-progressive cognitive impairment is a consistent feature of Duchenne muscular dystrophy (DMD), although no central nervous system (CNS)…”
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Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency by Ho, Mengfatt, Post, Cristina M., Donahue, Leah R., Lidov, Hart G.W., Bronson, Roderick T., Goolsby, Holly, Watkins, Simon C., Cox, Gregory A., Brown, Robert H.

“…Limb girdle muscular dystrophy type 2B and Miyoshi myopathy are clinically distinct forms of muscular dystrophy that arise from defects in the dysferlin gene…”
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Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy by Kang, Peter B., Lidov, Hart G.W., White, Alexander J., Mitchell, Matthew, Balasubramanian, Anuradha, Estrella, Elicia, Bennett, Richard R., Darras, Basil T., Shapiro, Frederic D., Bambach, Barbara J., Kurtzberg, Joanne, Gussoni, Emanuela, Kunkel, Louis M.

“…We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD was…”
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Desmuslin, An Intermediate Filament Protein That Interacts with α-Dystrobrevin and Desmin by Mizuno, Yuji, Thompson, Terri G., Guyon, Jeffrey R., Hart G. W. Lidov, Brosius, Melissa, Imamura, Michihiro, Ozawa, Eijiro, Watkins, Simon C., Kunkel, Louis M.

“…Dystrobrevin is a component of the dystrophin-associated protein complex and has been shown to interact directly with dystrophin, α1-syntrophin, and the…”
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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas by Brastianos, Priscilla K, Taylor-Weiner, Amaro, Manley, Peter E, Jones, Robert T, Dias-Santagata, Dora, Thorner, Aaron R, Lawrence, Michael S, Rodriguez, Fausto J, Bernardo, Lindsay A, Schubert, Laura, Sunkavalli, Ashwini, Shillingford, Nick, Calicchio, Monica L, Lidov, Hart G W, Taha, Hala, Martinez-Lage, Maria, Santi, Mariarita, Storm, Phillip B, Lee, John Y K, Palmer, James N, Adappa, Nithin D, Scott, R Michael, Dunn, Ian F, Laws, Edward R, Stewart, Chip, Ligon, Keith L, Hoang, Mai P, Van Hummelen, Paul, Hahn, William C, Louis, David N, Resnick, Adam C, Kieran, Mark W, Getz, Gad, Santagata, Sandro

“…Sandro Santagata, Gad Getz and colleagues report the discovery of a recurrent mutation in the oncogene BRAF in papillary craniopharyngiomas that does not occur…”
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Optimal dose of aprotinin for neuroprotection and renal function in a piglet survival model by Iwata, Yusuke, MD, Okamura, Toru, MD, Ishibashi, Nobuyuki, MD, Zurakowski, David, PhD, Lidov, Hart G.W., MD, Jonas, Richard A., MD

“…Objective The efficacy of aprotinin in reducing blood loss after cardiopulmonary bypass is well established, although its neuroprotective potential is less…”
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Aprotinin improves cerebral protection: Evidence from a survival porcine model by Anttila, Vesa, Hagino, Ikuo, Iwata, Yusuke, Mettler, Bret A., Lidov, Hart G.W., Zurakowski, David, Jonas, Richard A.

“…Aprotinin is a serine protease inhibitor used during cardiac surgery to reduce blood loss and preserve platelet function. It has also been shown to reduce…”
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Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy by Winawer, Melodie R., Griffin, Nicole G., Samanamud, Jorge, Baugh, Evan H., Rathakrishnan, Dinesh, Ramalingam, Senthilmurugan, Zagzag, David, Schevon, Catherine A., Dugan, Patricia, Hegde, Manu, Sheth, Sameer A., McKhann, Guy M., Doyle, Werner K., Grant, Gerald A., Porter, Brenda E., Mikati, Mohamad A., Muh, Carrie R., Malone, Colin D., Bergin, Ann Marie R., Peters, Jurriaan M., McBrian, Danielle K., Pack, Alison M., Akman, Cigdem I., LaCoursiere, Christopher M., Keever, Katherine M., Madsen, Joseph R., Yang, Edward, Lidov, Hart G. W., Shain, Catherine, Allen, Andrew S., Canoll, Peter D., Crino, Peter B., Poduri, Annapurna H., Heinzen, Erin L.

“…Objective Somatic variants are a recognized cause of epilepsy‐associated focal malformations of cortical development (MCD). We hypothesized that somatic…”
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Hypothermic Circulatory Arrest Increases Permeability of the Blood Brain Barrier in Watershed Areas by Okamura, Toru, MD, Ishibashi, Nobuyuki, MD, Kumar, T. Susheel, MD, Zurakowski, David, PhD, Iwata, Yusuke, MD, Lidov, Hart G.W., MD, Jonas, Richard A., MD

“…Background The integrity of the blood brain barrier (BBB) after cardiopulmonary bypass (CPB) with hypothermic circulatory arrest (HCA) is controversial in…”
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The choroid plexus synergizes with immune cells during neuroinflammation by Xu, Huixin, Lotfy, Peter, Gelb, Sivan, Pragana, Aja, Hehnly, Christine, Byer, Lillian I J, Shipley, Frederick B, Zawadzki, Miriam E, Cui, Jin, Deng, Liwen, Taylor, Milo, Webb, Mya, Lidov, Hart G W, Andermann, Mark L, Chiu, Isaac M, Ordovas-Montanes, Jose, Lehtinen, Maria K

“…The choroid plexus (ChP) is a vital brain barrier and source of cerebrospinal fluid (CSF). Here, we use longitudinal two-photon imaging in awake mice and…”
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Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production by Lun, Melody P, Johnson, Matthew B, Broadbelt, Kevin G, Watanabe, Momoko, Kang, Young-Jin, Chau, Kevin F, Springel, Mark W, Malesz, Alexandra, Sousa, André M M, Pletikos, Mihovil, Adelita, Tais, Adelita, Tai, Calicchio, Monica L, Zhang, Yong, Holtzman, Michael J, Lidov, Hart G W, Sestan, Nenad, Steen, Hanno, Monuki, Edwin S, Lehtinen, Maria K

“…A sheet of choroid plexus epithelial cells extends into each cerebral ventricle and secretes signaling factors into the CSF. To evaluate whether differences in…”
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Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene by Barba, Carmen, Blumcke, Ingmar, Winawer, Melodie R., Hartlieb, Till, Kang, Hoon-Chul, Grisotto, Laura, Chipaux, Mathilde, Bien, Christian G., Heřmanovská, Barbora, Porter, Brenda E., Lidov, Hart G.W., Cetica, Valentina, Woermann, Friedrich G., Lopez-Rivera, Javier A., Canoll, Peter D., Mader, Irina, D'Incerti, Ludovico, Baldassari, Sara, Yang, Edward, Gaballa, Ahmed, Vogel, Hannes, Straka, Barbora, Macconi, Letizia, Polster, Tilman, Grant, Gerald A., Krsková, Lenka, Shin, Hui Jin, Ko, Ara, Crino, Peter B., Krsek, Pavel, Lee, Jeong Ho, Lal, Dennis, Baulac, Stéphanie, Poduri, Annapurna, Guerrini, Renzo

“…The gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and…”
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