Results 81 to 90 of about 70,338 (285)

Mathematical modeling of Zika disease in pregnant women and newborns with microcephaly in Brazil

, 2017
We propose a new mathematical model for the spread of Zika virus. Special attention is paid to the transmission of microcephaly. Numerical simulations show the accuracy of the model with respect to the Zika outbreak occurred in Brazil.Comment: This is a ...
Area, Ivan, Ndairou, Faical, Nieto, Juan J., Silva, Cristiana J., Torres, Delfim F. M.   +4 more
core   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Blocking Zika virus vertical transmission. [PDF]

, 2018
The outbreak of the Zika virus (ZIKV) has been associated with increased incidence of congenital malformations. Although recent efforts have focused on vaccine development, treatments for infected individuals are needed urgently. Sofosbuvir (SOF), an FDA-
Beltrão-Braga, Patricia CB, Corbett, Kevin D, Cugola, Fernanda R, Fernandes, Isabella R, Herai, Roberto H, Huang, Chun-Teng, Kolar, Matthew J, Macia, Angela, Mesci, Pinar, Momper, Jeremiah D, Montefusco, Sandro, Moore, Spencer M, Muotri, Alysson R, Pinto, Antonella, Rosenberg, Scott C, Russo, Fabiele B, Saghatelian, Alan, Sheets, Nicholas, Shiryaev, Sergey A, Shresta, Sujan, Siqueira-Neto, Jair L, Suarez, Nicole A, Tejwani, Leon, Terskikh, Alexey V   +23 more
core   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress [PDF]

, 2015
The MRE11/RAD50/NBS1 (MRN) complex is a major sensor of DNA double strand breaks, whose role in controlling faithful DNA replication and preventing replication stress is also emerging. Inactivation of the MRN complex invariably leads to developmental and/
A Dupre, A Gulino, A Kuzyk, A Shibata, A Soriani, A Wey, A Wey, AM Duursma, AM Taylor, B Argenti, B Ricci, B Shiotani, BR Stanton, C Bruhn, C Heil, CJ Thiele, CL Marcelis, D Dominguez-Sola, D Fruci, DW Felsher, EA Rahal, F Sardina, G Giannini, G Giannini, H van Bokhoven, HE Bryant, I Screpanti, J Buis, J Charron, J Lafrance-Vanasse, J Wu, K Schlacher, K Trenz, KA Cole, KH Chrzanowska, KK To, L Di Marcotullio, LJ Valentijn, M Cognet, M Murga, M Petroni, M Petroni, M Sahún-Roncero, M Wilda, M Wojewodzka, O Chayka, P Khongkow, PE Neiman, PJ Hurlin, PO Frappart, PS Knoepfler, R Moser, R Thompson, R Waltes, RS Williams, RV Pusapati, S Albini, S Biton, S Ray, S Rohban, S Sawai, S Ying, SV Srinivasan, TG Oliver, TH Stracker, V Colicchia, V Veschi, V Veschi, W Lutz, YC Chiang, YL Lin   +70 more
core   +1 more source

Causes of Microcephaly in the Zika Era in Argentina: A Retrospective Study

Global Pediatric Health, 2021
There are gaps in understanding the causes and consequences of microcephaly. This paper describes the epidemiological characteristics, clinical presentations, and etiologies of children presenting microcephaly during the Zika outbreak in Argentina.
Griselda Berberian MD, Rosa Bologna MD, María Guadalupe Pérez MD, Andrea Mangano PhD, Marina Costa MSc, Silvana Calligaris MD, María Alejandra Morales MSc, Carlos Rugilo MD, Elisa Ruiz-Burga PhD, Claire Thorne PhD   +9 more
doaj   +1 more source

Genome-wide Integrative Analysis of Zika-Virus-Infected Neuronal Stem Cells Reveals Roles for MicroRNAs in Cell Cycle and Stemness. [PDF]

, 2019
Zika virus (ZIKV) infection is implicated in severe fetal developmental disorders, including microcephaly. MicroRNAs (miRNAs) post-transcriptionally regulate numerous processes associated with viral infection and neurodegeneration, but their ...
Dang, Jason W, Qin, Yue, Rana, Tariq M, Tiwari, Shashi Kant   +3 more
core  

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation [PDF]

, 2002
BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped.
Bond, J., Corry, P., Crow, Y., Hampshire, D.J., Jafri, H., Mannon, J., Pattison, L., Rashid, Y., Roberts, E., Springell, K., Woods, C.G.   +10 more
core   +2 more sources

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources