Potentiation and allosteric agonist activation of α7 nicotinic acetylcholine receptors: binding sites and hypotheses

Authors: Sanders, Victoria R., Millar, Neil S.

Source: In Pharmacological Research May 2023 191

Case Report: The importance of genetic counseling for families with hyperinsulinism.

Authors: Sanders, Victoria R., Lord, Katherine, Sigal, Winnie M., McKnight, Heather, Adzick, N. Scott, States, Lisa J., Bhatti, Tricia, De Leon, Diva D.

Source: Frontiers in Pediatrics; 2025, p1-5, 5p

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Authors: Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

Source: In The American Journal of Human Genetics 6 May 2021 108(5):857-873

Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.

Authors: Rosenfeld, Elizabeth, Mitteer, Lauren M, Boodhansingh, Kara, Sanders, Victoria R, McKnight, Heather, Leon, Diva D De

Source: Journal of the Endocrine Society; Jul2024, Vol. 8 Issue 7, p1-8, 8p

Subject Terms: HYPERINSULINISM, DELAYED diagnosis, CHILDREN'S hospitals, SYNDROMES

Geographic Terms: PHILADELPHIA (Pa.)

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Authors: Sanders, Victoria R., Sheldon, Stephen H., Charrow, Joel

Source: In Genetics in Medicine February 2019 21(2):459-463

Identification by virtual screening and functional characterisation of novel positive and negative allosteric modulators of the α7 nicotinic acetylcholine receptor

Authors: Smelt, Charles L.C., Sanders, Victoria R., Newcombe, Joseph, Burt, Richard P., Sheppard, Tom D., Topf, Maya, Millar, Neil S.

Source: In Neuropharmacology 1 September 2018 139:194-204

Misdiagnosis of capillary malformations in darker skin phototypes

Authors: Nriagu, Bede N., Sanders, Victoria R., Bercovitch, Lionel, Snyder, Kristen, Cross, Elizabeth A., Treat, James R., Sheppard, Sarah E.

Source: Pediatric dermatology. 38:137-139

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135815485.0x000001&indx=1&recIds=ETOCvdc_100135815485.0x000001

Novel BCS1L Gene Variants and Association with Björnstad Syndrome

Authors: Gandelman, Jocelyn S., Sanders, Victoria R., Yazdan, Pedram, Wolf, Barry, Chamlin, Sarah L.

Source: Hearing journal. 73(7):37-39

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176538160.0x000001&indx=1&recIds=ETOCvdc_100176538160.0x000001

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Authors: Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

Source: Human genetics. 137(5):375-388

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125870316.0x000001&indx=1&recIds=ETOCvdc_100125870316.0x000001

Agonist and antagonist properties of an insect GABA-gated chloride channel (RDL) are influenced by heterologous expression conditions.

Authors: Smelt, Charles L. C.¹ (AUTHOR), Sanders, Victoria R.¹ (AUTHOR), Puinean, Alin M.¹ (AUTHOR), Lansdell, Stuart J.¹ (AUTHOR), Goodchild, Jim² (AUTHOR), Millar, Neil S.¹ (AUTHOR) n.millar@ucl.ac.uk

Source: PLoS ONE. 7/7/2021, Vol. 16 Issue 7, p1-19. 19p.

Subject Terms: *LIGAND-gated ion channels, *CHLORIDE channels, *ION channels, *GLYCINE receptors, *MOLECULAR chaperones, *BOMBUS terrestris, *BINDING sites

Stoichiometry-Selective Antagonism of α4β2 Nicotinic Acetylcholine Receptors by Fluoroquinolone Antibiotics.

Authors: Sanders, Victoria R., Sweeney, Aaron, Topf, Maya, Millar, Neil S.

Source: ACS Chemical Neuroscience; 6/15/2022, Vol. 13 Issue 12, p1805-1817, 13p

Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.

Authors: Sheppard, Sarah E., Sanders, Victoria R., Srinivasan, Abhay, Finn, Laura S., Adams, Denise, Elton, Andrew, Amlie-Lefond, Catherine, Nelson, Zoe, Dmyterko, Victoria, Jensen, Dana, Zenner, Kaitlyn, Perkins, Jonathan, Bennett, James T.

Source: Cold Spring Harbor Molecular Case Studies; Dec2021, Vol. 7 Issue 6, p1-8, 8p

Subject Terms: VASCULAR diseases, MOSAICISM, PHOSPHATIDYLINOSITOL 3-kinases, ARTERIOVENOUS malformation, ONCOGENES

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De novo variants in FBXO11cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Authors: Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.

Source: European Journal of Human Genetics: EJHG; May 2019, Vol. 27 Issue: 5 p738-746, 9p

Novel BCS1LGene Variants and Association with Björnstad Syndrome

Authors: Gandelman, Jocelyn S., Sanders, Victoria R., Yazdan, Pedram, Wolf, Barry, Chamlin, Sarah L.

Source: The Hearing Journal; July 2020, Vol. 73 Issue: 7 p37-37,38,39, 3p

Synthesis and Antagonist Activity of Methyllycaconitine Analogues on Human α7 Nicotinic Acetylcholine Receptors

Authors: Qasem, Ashraf M. A., Rowan, Michael G., Sanders, Victoria R., Millar, Neil S., Blagbrough, Ian S.

Source: ACS Bio & Med Chem Au; 20230101, Issue: Preprints