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(hydranencephaly)
618 results
  • Schmallenberg virus: a systematic international literature review (2011-2019) from an Irish perspective. [Review]
    Ir Vet J 2019; 72:9Collins ÁB, Doherty ML, … Mee JF
  • In Autumn 2011, nonspecific clinical signs of pyrexia, diarrhoea, and drop in milk yield were observed in dairy cattle near the German town of Schmallenberg at the Dutch/German border. Targeted veterinary diagnostic investigations for classical endemic and emerging viruses could not identify a causal agent. Blood samples were collected from animals with clinical signs and subjected to metagenomic…
  • Schmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain. [Journal Article]
    Acta Virol 2019; 63(3):286-291Aksoy E, Azkur AK
  • Schmallenberg virus (SBV), a neurotropic member of the genus Orthobunyavirus, infects ruminants and causes neurological lesions and fetal malformations including cerebellar hypoplasia, hydranencephaly, and porencephaly. The aim of this study is to establish intracerebral (i.c.) infection of SBV in newborn BALB/c mice and to investigate some of the transcription factors in brain. For this aim, bra…
  • Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation. [Journal Article]
    Genes Cells 2019; 24(10):642-649Yanagi K, Sone R, … Kawahara A
  • Mammalian CEP55 (centrosomal protein 55 kDa) is a coiled-coil protein localized to the centrosome in interphase cells and is required for cytokinesis. A homozygous non-sense mutation in human CEP55 has been recently identified in perinatal lethal MARCH (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly) syndrome. We have isolated zebrafish cep55 muta…
  • Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. [Case Reports]
    Am J Med Genet A 2019; 179(3):494-497Abdel-Hamid MS, El-Dessouky SH, … Abdel-Salam GMH
  • Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with microhydranencephaly. We report on three sibs in which the brain MRI and CT scans demonstrated variable degree of reduced volume of cerebral hemispheres and ventriculomegaly. Further, they had agenesis of corpus callosum, cerebellar, and brainstem hy…
  • An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. [Journal Article]
    Eur J Hum Genet 2019; 27(4):657-662Rawlins LE, Jones H, … Baple EL
  • The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings presenting with a lethal foetal di…
  • Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants. [Review]
    Birth Defects Res 2019; 111(2):41-52Radford K, Taylor RC, … Gick B
  • The aerodigestive and communicative behaviors of anencephalic and hydranencephalic patients are assessed from literature sources and are compared with documented neural structures present in the brainstem, subcortical, and cortical regions of the brain. Much of the data analyzed corroborate previous neurological studies, which focus on central pattern generators and development in model organisms…
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