Results 51 to 60 of about 88,636 (324)

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Journal of Clinical Investigation, 2020
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in β cells.
E. De Franco, Maria Lytrivi, Hazem Ibrahim, Hossam Montaser, M. Wakeling, Federica Fantuzzi, K. Patel, Céline Demarez, Ying Cai, M. Igoillo-Esteve, C. Cosentino, Väinö Lithovius, H. Vihinen, E. Jokitalo, T. Laver, Matthew B. Johnson, Toshiaki Sawatani, H. Shakeri, Nathalie Pachera, B. Haliloglu, M. Ozbek, Edip Unal, Ruken Yıldırım, Tushar Godbole, M. Yıldız, B. Aydin, Angéline Bilheu, Ikuo K. Suzuki, S. Flanagan, P. Vanderhaeghen, V. Senée, C. Julier, P. Marchetti, D. Eizirik, S. Ellard, J. Saarimäki-Vire, T. Otonkoski, M. Cnop, A. Hattersley   +38 more
semanticscholar   +1 more source

Zika Virus Infection and Microcephaly: A Case-Control Study in Brazil

Annals of Global Health, 2019
Background: Brazil presented an alarming number of newborns with microcephaly in the years 2015 and 2016. The investigation of the cases raised the suspicion of the association of these cases with maternal infections by the zika virus.
Sabrina Gabriele Maia Oliveira Rocha, Luciano Lima Correia, Antônio José Lêdo Alves da Cunha, Hermano Alexandre Lima Rocha, Álvaro Jorge Madeiro Leite, Jocileide Sales Campos, Tereza de Jesus Pinheiro Gomes Bandeira, Lucas Silveira do Nascimento, Anamaria Cavalcante e Silva   +8 more
doaj   +1 more source

Requests for Abortion in Latin America Related to Concern about Zika Virus Exposure [PDF]

, 2016
With the rapid emergence of Zika virus throughout Latin America and its association with microcephaly, requests for access to abortion medications through online telemedicine have increased in countries where access to safe abortion is not universally ...
Aiken, Abigail R.A., Aiken, Catherine E., Gomperts, Rebecca, Scott, James G., Trussell, James, Worrell, Marc   +5 more
core   +3 more sources

Neurodevelopment in Children Exposed to Zika Virus: What Are the Consequences for Children Who Do Not Present with Microcephaly at Birth?

Viruses, 2021
The relation of Zika virus (ZIKV) with microcephaly is well established. However, knowledge is lacking on later developmental outcomes in children with evidence of maternal ZIKV infection during pregnancy born without microcephaly.
Paula Fabiana Sobral da Silva, S. Eickmann, R. Ximenes, C. Martelli, E. Brickley, Marília C Lima, U. Montarroyos, M. D. Carvalho, L. C. Rodrigues, T. V. B. Araújo, Liana O Ventura, Danielle Maria da Silva Oliveira, Regina Coeli Ferreira Ramos, D. B. Miranda-Filho, On Behalf Of The Microcephaly Epidemic Research Gr   +14 more
semanticscholar   +1 more source

Case Fatality Rate Related to Microcephaly Congenital Zika Syndrome and Associated Factors: A Nationwide Retrospective Study in Brazil †

Viruses, 2020
Background: The clinical manifestations of microcephaly/congenital Zika syndrome (microcephaly/CZS) have harmful consequences on the child’s health, increasing vulnerability to childhood morbidity and mortality. This study analyzes the case fatality rate
Maria Conceição N. Costa, Luciana Lobato Cardim, Maria Gloria Teixeira, Mauricio L. Barreto, Rita de Cassia Oliveira de Carvalho-Sauer, Florisneide R. Barreto, Martha Suely Itaparica Carvalho, Wanderson K. Oliveira, Giovanny V. A. França, Eduardo Hage Carmo, Roberto F. S Andrade, Moreno S. Rodrigues, Rafael V. Veiga, Juliane F. Oliveira, Qeren H. R. F. Fernandes, Larissa C. Costa, Giovanini E. Coelho, Enny S. Paixao   +17 more
doaj   +1 more source

Microcephaly, an etiopathogenic vision

Pediatrics and Neonatology, 2021
Microcephaly is defined by an occipital-frontal head circumference (OFD) 2 standard deviations (SD) smaller than the average expected for age, gender and population. Its incidence has been reported between 1.3 and 150 cases per 100,000 births. Currently,
Luis Eduardo Becerra-Solano, Leovigildo Mateos-Sánchez, Eunice López-Muñoz   +2 more
doaj   +1 more source

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Genes, 2021
Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders.
M. Dawidziuk, T. Gambin, Ewelina Bukowska-Olech, D. Antczak-Marach, M. Badura-Stronka, P. Buda, Edyta Budzyńska, Jennifer Castañeda, T. Chilarska, E. Czyżyk, A. Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, D. Gieruszczak-Białek, Ewelina Głodek-Brzozowska, Alicja Goszczańska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, B. Gurda, A. Jakubiuk-Tomaszuk, E. Jamroz, M. Janeczko, Dominika Jedlińska-Pijanowska, M. Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, M. Krajewska-Walasek, Katarzyna Kufel, A. Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gąsiorek, A. Materna-Kiryluk, H. Mazurkiewicz, M. Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, R. Posmyk, A. Pyrkosz, Mariola Rudzka-Dybała, R. Ślęzak, M. Wiśniewska, Zofia Zalewska-Miszkurka, E. Szczepanik, E. Obersztyn, M. Bekiesińska-Figatowska, Paweł Gawliński, W. Wiszniewski   +46 more
semanticscholar   +1 more source

Causes of microcephaly in human—theoretical considerations

Frontiers in Neuroscience, 2023
As is evident from the theme of the Research Topic “Small Size, Big Problem: Understanding the Molecular Orchestra of Brain Development from Microcephaly,” the pathomechanisms leading to mirocephaly in human are at best partially understood. As molecular
Michael Heide, Wieland B. Huttner
doaj   +1 more source

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]

, 2012
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker, Beckman, Bernstein, Breslin, Breslin, Brodsky, Buck, Buck, Caldecott, Caldecott, Chappell, Christopher A. Walsh, Date, Dingwall, Dobson, Edward C. Gilmore, El-Khamisy, Evans, Garces, Hsiang, Interthal, John J. Reynolds, Karimi-Busheri, Keith W. Caldecott, Koch, Kouzminova, Kuzminov, Lee, Lindahl, Loizou, McCullough, Moreira, Riballo, Segal-Raz, Shen, Sprules, Takashima, Wang, Wang, Ward, Ward, Whitehouse   +41 more
core   +1 more source

Oropouche Virus (OROV) in Pregnancy: An Emerging Cause of Placental and Fetal Infection Associated with Stillbirth and Microcephaly following Vertical Transmission

Viruses
Oropouche virus (OROV) is an emerging arbovirus endemic in Latin America and the Caribbean that causes Oropouche fever, a febrile illness that clinically resembles some other arboviral infections.
David A. Schwartz, Pradip Dashraath, David Baud   +2 more
semanticscholar   +1 more source