Results 31 to 40 of about 70,875 (280)

A theoretical estimate of the risk of microcephaly during pregnancy with Zika virus infection

Epidemics, 2016
Objectives: There has been a growing concern over Zika virus (ZIKV) infection, particularly since a probable link between ZIKV infection during pregnancy and microcephaly in the baby was identified.
Hiroshi Nishiura, Kenji Mizumoto, Kat S. Rock, Yohei Yasuda, Ryo Kinoshita, Yuichiro Miyamatsu   +5 more
doaj   +1 more source

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

BMC Neurology, 2020
Background Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations.
Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace, Nicolas Chrestian   +4 more
doaj   +1 more source

The Impact of the Zika Epidemic on Women’s Reproductive Intentions and Behaviors in Brazil [PDF]

, 2017
This research brief reports on a focus group study that explores how and why the Zika virus affects reproductive processes in Brazil. The authors found that both reproductive intentions and behaviors changed as a result of the Zika epidemic among women ...
Alves, Sandra Valongueiro, Coutinho, Raquel Zanatta, Marteleto, Leticia J., Weitzman, Abigail   +3 more
core   +1 more source

The Frequency of Cytomegalovirus and Toxoplasma Among Microcephalic and Hydrocephalic Neonates Admitted to Pediatric Hospital in Bandar Abbas [PDF]

Disease and Diagnosis, 2020
Background: Congenital infection is a primary cause of malformations during infancy including hydrocephaly and microcephaly. In addition, cytomegalovirus and toxoplasma are the two prevalent causes of congenital infections.
Maryam Rostamian, Seyyed Hossein Saadat, Mohammad Mehdi Mashayekhi, Hosein Hamadiyan, Mehran Ahmadi   +4 more
doaj   +1 more source

Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly [PDF]

, 2017
Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors.
Alessandra Maria Adelaide, Chiotto, Alessandro, Mauro, Alessia, Caramello, Bonaccorsi, Silvia, Chiara, Tocco, Federico Tommaso, Bianchi, Ferdinando Di, Cunto, Francesco, Neri, Francesco, Sgro, Gaia Elena, Berto, Gianmarco, Pallavicini, Laura, Tasca, Lorenzo, Priano, Marta, Gai, Maurizio, Gatti, Merigliano, Chiara, Nadia El, Assawy, Salvatore, Oliviero, Stephan, Geley, Ugo, Ala, Verni', Fiammetta, Yifan, Liu   +21 more
core   +3 more sources

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
core   +5 more sources

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]

, 2007
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer, A Purohit, Anand Saggar, Andrew P Jackson, Ben Hamel, Bertrand Vernay, C Ponting, Carol-Anne Martin, CG Woods, D Chen, D Diviani, Elen Griffith, F Majewski, F Ruschendorf, GK Alderton, GK Alderton, H Dodson, H Loffler, H Niida, HPG Seckel, J Bond, J Bond, JB Dictenberg, K Miyoshi, M Martinez-Campos, M O'Driscoll, Mark O'Driscoll, MR Flory, Nouriya Al Sanna, P Brown, Paola Vagnarelli, Penny A Jeggo, Q Li, RD Martin, S Doxsey, S Sengupta, S Zhang, Sarah Walker, SJ Doxsey, Tom Stiff, WC Zimmerman, William C Earnshaw, Y Shiloh   +42 more
core   +4 more sources

A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly

Cells, 2022
Microcephaly presents in neurodevelopmental disorders with multiple aetiologies, including bi-allelic mutation in TUBGCP2, a component of the biologically fundamental and conserved microtubule-nucleation complex, γ-TuRC. Elucidating underlying principles
Slawomir Bartoszewski, Mateusz Dawidziuk, Natalia Kasica, Roma Durak, Marta Jurek, Aleksandra Podwysocka, Dorothy Lys Guilbride, Piotr Podlasz, Cecilia Lanny Winata, Pawel Gawlinski   +9 more
doaj   +1 more source

Low CCL2 and CXCL8 Production and High Prevalence of Allergies in Children with Microcephaly Due to Congenital Zika Syndrome

Viruses, 2023
Congenital Zika Syndrome (CZS) is associated with an increased risk of microcephaly in affected children. This study investigated the peripheral dysregulation of immune mediators in children with microcephaly due to CZS.
Wallace Pitanga Bezerra, Amanda Costa Ayres Salmeron, Anna Cláudia Calvielli Castelo Branco, Ingryd Camara Morais, Valéria Soraya de Farias Sales, Paula Renata Lima Machado, Janeusa Trindade Souto, Josélio Maria Galvão de Araújo, Paulo Marcos da Matta Guedes, Maria Notomi Sato, Manuela Sales Lima Nascimento   +10 more
doaj   +1 more source

A novel six3 mutation segregates with holoprosencephaly in a large family [PDF]

, 2009
Holoprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components.
Abecasis, Barkovich, Bendavid, Bendavid, Brown, Cohen, Del Bene, Domené, Dubourg, Dubourg, El-Jaick, Geng, Gestri, Granadino, Gripp, Inbal, Kawakami, Kobayashi, Kobayashi, Kong, Kruglyak, Lagutin, Lazaro, Leoncini, Liu, Matsunaga, Ming, Ming, Muenke, Muenke, Nanni, O'Connell, Oliver, Pasquier, Pasquier, Ribeiro, Roessler, Roessler, Schell, Thiele, Wallis   +40 more
core   +2 more sources