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9,907 results
  • KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. [Journal Article]
    Hum Genome Var 2018; 5:18010Malvezzi JV, H Magalhaes I, … Krepischi AC
  • KIF11 mutations are known to cause autosomal dominant microcephaly-lymphedema-chorioretinopathy dysplasia syndrome, associated or not with intellectual disability. We report a father and two children presenting microcephaly, chorioretinopathy and mild intellectual disability associated with a 209-kb microdeletion at 10q23.33. This microdeletion encompasses the entire KIF11 gene. In addition to po…
  • Toward the formation of neural circuits in human brain organoids. [Review]
    Curr Opin Cell Biol 2019; 61:86-91Seto Y, Eiraku M
  • Because of the ability to recapitulate normal developmental processes, brain organoids derived from pluripotent stem cells are an important experimental resource to investigate the development and pathogenesis of human brains. Although brain organoids are used in research on diseases such as microcephaly, it has traditionally been difficult to analyze diseases that affect neuronal networks betwee…
  • Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. [Journal Article]
    Neurobiol Dis 2019; :104577Arystarkhova E, Haq IU, … Sweadner KJ
  • Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p.Leu924Pro, and a VUS, p.Arg463Cys). Mutations associated with mild or severe phenotypes [rapid-onset dystonia-parkinsonism (RDP), alternating hemiple…
  • Risk of Zika microcephaly correlates with features of maternal antibodies. [Journal Article]
    J Exp Med 2019Robbiani DF, Olsen PC, … Nussenzweig MC
  • Zika virus (ZIKV) infection during pregnancy causes congenital abnormalities, including microcephaly. However, rates vary widely, and the contributing risk factors remain unclear. We examined the serum antibody response to ZIKV and other flaviviruses in Brazilian women giving birth during the 2015-2016 outbreak. Infected pregnancies with intermediate or higher ZIKV antibody enhancement titers wer…
  • Mandibulofacial dysostosis with microcephaly: a syndrome to remember. [Journal Article]
    BMJ Case Rep 2019; 12(8)Silva JB, Soares D, … Santos H
  • Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1…
  • ZIKV Envelope Domain-Specific Antibodies: Production, Purification and Characterization. [Journal Article]
    Viruses 2019; 11(8)Akhras S, Herrlein ML, … Hildt E
  • Infection with Zika virus (ZIKV) came first to public attention after it was found to be associated with congenital microcephaly during the outbreak in Brazil (2015-2016). Diagnosis of ZIKV suffers from extensive cross-reactivity with other Flaviviruses, which are circulating in many ZIKV epidemic areas. Due to the fatal outcome of ZIKV infection during pregnancy, detailed knowledge about neutral…
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