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10,592 results
  • StatPearls: Hydranencephaly [BOOK]
    . StatPearls Publishing: Treasure Island (FL) Sandoval Jose I. JI University of Puerto Rico De Jesus Orlando O University of Puerto Rico, Medical Sciences Campus, Neurosurgery Section BOOK
  • Hydranencephaly is a rare congenital post-neurulation disorder that occurs during the second trimester characterized by the destruction of the cerebral hemispheres, which are replaced with a membranous sac filled with cerebrospinal fluid (CSF).[1][2] The cranial cavity may have remnants of glial tissue and ependyma, especially along the falx and close to the diencephalon.[2] The cranial vault and…
  • Zika virus NS1 affects the junctional integrity of human brain microvascular endothelial cells. [Journal Article]
    Biochimie. 2020 Jul 05 [Online ahead of print]Rastogi M, Singh SK
  • Zika virus (ZIKV) infection leads to microcephaly in newborns. Flaviviruses are known to secrete NS1 protein extracellularly and its concentration in serum directly co-relate to disease severity. The presence of ZIKV-NS1 near the brain microvascular endothelial cells (BMVECs) affects blood-brain-barrier, which is composed of tight junctions (TJs) and adherens junctions (AJs). Viruses utilize diff…
  • The EJC component Magoh in non-vertebrate chordates. [Journal Article]
    Dev Genes Evol. 2020 Jul 06 [Online ahead of print]Sepe RM, Ghiron JHL, … Sordino P
  • Earliest craniates possess a newly enlarged, elaborated forebrain with new cell types and neuronal networks. A key question in vertebrate evolution is when and how this cerebral expansion took place. The exon-junction complex (EJC) plays an essential role in mRNA processing of all Eukarya. Recently, it has been proposed that the EJC represses recursive RNA splicing in Deuterostomes, with implicat…
  • Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. [Journal Article]
    PLoS One. 2020; 15(7):e0235655.Benoit-Pilven C, Besson A, … Mazoyer S
  • Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. Next-generation sequencing of clinically heterogeneous cohorts (children with either a suspected genetic disorder or a congenital microcephaly) recently identif…
  • Role of microglia in the dissemination of Zika virus from mother to fetal brain. [Journal Article]
    PLoS Negl Trop Dis. 2020 Jul 06; 14(7):e0008413.Xu P, Shan C, … Wu P
  • Global Zika virus (ZIKV) outbreaks and their link to microcephaly have raised major public health concerns. However, the mechanism of maternal-fetal transmission remains largely unknown. In this study, we determined the role of yolk sac (YS) microglial progenitors in a mouse model of ZIKV vertical transmission. We found that embryonic (E) days 6.5-E8.5 were a critical window for ZIKV infection th…
  • Clinical characteristics of children with congenital Zika syndrome: a case series. [Journal Article]
    Arq Neuropsiquiatr. 2020 Jun 29 [Online ahead of print]Massetti T, Herrero D, … Voos M
  • CONCLUSIONS: Children with congenital Zika syndrome showed microcephaly at birth and follow-up. Smaller head circumferences and poorer motor outcomes were observed in 1T. Infants showed poor visual and motor outcomes. Moderate positive correlations between birth and follow-up head circumference and gross motor function were found.
  • De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia. [Journal Article]
    Clin Genet. 2020 Jul 06 [Online ahead of print]Niemann JH, Du C, … Steinemann D
  • We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline varia…
  • Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2. [Case Reports]
    Front Genet. 2020; 11:561.Corrêa T, Poswar F, … Riegel M
  • In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed a 41.1 Mb duplication encompassing the band region 4p16.3-p13, and a 14.7 Mb deletion located between the bands 5p15…
  • Zika virus infection causes widespread damage to the inner ear. [Journal Article]
    Hear Res. 2020 Jun 29; 395:108000.Yee KT, Neupane B, … Vetter DE
  • Zika virus (ZIKV) has been recently recognized as a causative agent of newborn microcephaly, as well as other neurological consequences. A less well recognized comorbidity of prenatal ZIKV infection is hearing loss, but cases of hearing impairment following adult ZIKV infection have also been recognized. Diminished hearing following prenatal ZIKV infection in a mouse model has been reported, but …
  • Zika virus induces oxidative stress and decreases antioxidant enzyme activities in vitro and in vivo. [Journal Article]
    Virus Res. 2020 Jul 02; 286:198084.Almeida LT, Ferraz AC, … de Brito Magalhães CL
  • The first outbreak of Zika virus (ZIKV) infection in the Americas, especially in Brazil, was reported in 2015. Fever, headache, rash, and conjunctivitis are the common symptoms of ZIKV infection. Unexpected clinical outcomes, such as microcephaly and Guillain-Barré syndrome, have also been reported. The recent spread of ZIKV and its association with severe illness has created an urgent need to un…
  • Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency. [Case Reports]
    Ann Indian Acad Neurol. 2020 May-Jun; 23(3):347-351.Narayan V, Mahay SB, … Puri RD
  • Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS). We report three patients from two unrelated families, diagnosed with GAMT deficiency on next-generation sequencing. All the probands had happy predisposition as a predominant manifestation in addition to the reported fe…
  • A novel VPS13B mutation in Cohen syndrome: a case report and review of literature. [Journal Article]
    BMC Med Genet. 2020 Jun 30; 21(1):140.Momtazmanesh S, Rayzan E, … Rezaei N
  • CONCLUSIONS: We reported a novel homozygous frameshift variant in VPS13B (LRG_351t1: c.7095del; p.Ser2366AlafsTer49) in a 4-year-old girl with Cohen syndrome. Cohen syndrome should be considered in differential diagnosis of any child with intellectual disability and neutropenia.
  • [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ]. [Journal Article]
    Zhonghua Er Ke Za Zhi. 2020 Jul 02; 58(7):586-590.Lang CH, Yang Y, … Zhang YH
  • Objective: To summarize the clinical characteristics of children with SLC35A2 gene variants related congenital disorders of glycosylation (SLC35A2-CDG), so as to improve the clinicians' understanding of this disease. Methods: Clinical data and gene detection results of 6 epilepsy children with SLC35A2 gene variants were treated in the Department of Pediatrics Peking University First Hospital fr…
  • ATP6V1B2-related epileptic encephalopathy. [Journal Article]
    Epileptic Disord. 2020 Jun 01; 22(3):317-322.Inuzuka LM, Macedo-Souza LI, … Kok F
  • ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), a multiple malformation syndrom…
  • L-serine synthesis via the phosphorylated pathway in humans. [Review]
    Cell Mol Life Sci. 2020 Jun 27 [Online ahead of print]Murtas G, Marcone GL, … Pollegioni L
  • L-serine is a nonessential amino acid in eukaryotic cells, used for protein synthesis and in producing phosphoglycerides, glycerides, sphingolipids, phosphatidylserine, and methylenetetrahydrofolate. Moreover, L-serine is the precursor of two relevant coagonists of NMDA receptors: glycine (through the enzyme serine hydroxymethyltransferase), which preferentially acts on extrasynaptic receptors an…
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