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Microcephaly

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https://www.readbyqxmd.com/read/28920961/germline-mutations-affecting-the-histone-h4-core-cause-a-developmental-syndrome-by-altering-dna-damage-response-and-cell-cycle-control
#1
Federico Tessadori, Jacques C Giltay, Jane A Hurst, Maarten P Massink, Karen Duran, Harmjan R Vos, Robert M van Es, Richard H Scott, Koen L I van Gassen, Jeroen Bakkers, Gijs van Haaften
Covalent modifications of histones have an established role as chromatin effectors, as they control processes such as DNA replication and transcription, and repair or regulate nucleosomal structure. Loss of modifications on histone N tails, whether due to mutations in genes belonging to histone-modifying complexes or mutations directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis. More recently, modifications affecting the globular histone core have been uncovered as being crucial for DNA repair, pluripotency and oncogenesis...
September 18, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28916391/zika-virus-structural-biology-and-progress-in-vaccine-development
#2
REVIEW
Hsiao-Han Lin, Bak-Sau Yip, Li-Min Huang, Suh-Chin Wu
The growing number of zika virus (ZIKV) infections plus a 20-fold increase in neonatal microcephaly in newborns in Brazil have raised alarms in many countries regarding the threat to pregnant women. Instances of microcephaly and central nervous system malformations continue to increase in ZIKV outbreak regions. ZIKV is a small enveloped positive-strand RNA virus belonging to the Flavivirus genus of the Flaviviridae family. High-resolution ZIKV structures recently identified by cryo-electron microscopy indicate that the overall ZIKV structure is similar to those of other flaviviruses...
September 12, 2017: Biotechnology Advances
https://www.readbyqxmd.com/read/28914749/raised-frequency-of-microcephaly-related-to-zika-virus-infection-in-two-birth-defects-surveillance-systems-in-bogot%C3%A3-and-cali-colombia
#3
Paula Hurtado-Villa, Angie K Puerto, Salomé Victoria, Gloria Gracia, Lesly Guasmayán, Patricia Arce, Gilberto Álvarez, Esperanza Blandón, Nubia Rengifo, Jorge A Holguín, Alexander Durán, Ignacio Zarante
Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. In 2016, rates of microcephaly appeared to start increasing around May, peaking in July, and declining through December. The occurrence of microcephaly appears to have increased nearly 4-fold in 2 large cities in Colombia, concurrently with the reported Zika virus epidemic in the country.
October 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28912110/the-genetics-of-congenitally-small-brains
#4
REVIEW
Sarah Duerinckx, Marc Abramowicz
Primary microcephaly (PM) refers to a congenitally small brain, resulting from insufficient prenatal production of neurons, and serves as a model disease for brain volumic development. Known PM genes delineate several cellular pathways, among which the centriole duplication pathway, which provide interesting clues about the cellular mechanisms involved. The general interest of the genetic dissection of PM is illustrated by the convergence of Zika virus infection and PM gene mutations on congenital microcephaly, with CENPJ/CPAP emerging as a key target...
September 11, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28904689/severe-neonatal-cytomegalovirus-infection-about-a-case
#5
Brahim El Hasbaoui, Amal Bousselamti, Mohammed Amine Redouani, Amina Barkat
Maternofoetal infection with Cytomegalovirus (CMV) is the most common congenital infection and a leading cause of mental retardation and sensori-neural hearing loss. Population-based studies indicate that at least 0.5% of all infants born alive have CMV of whom approximately 10% have clinically evident symptomsat birth. The Justification of systematic screening for foetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when foetal infection has been diagnosed...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28901661/-d40-knl1-casc5-and-autosomal-recessive-primary-microcephaly
#6
REVIEW
Masato Takimoto
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disease with brain size reduction. More than a dozen loci encoding proteins of diverse function have been shown to be responsible for MCPH1-13. Mutations in the D40/KNL1/CASC5 gene, which was initially characterized as a gene involved in chromosomal translocation in leukemia and as a member of the cancer/testis gene family, was later found to encode a kinetochore protein essential for mitotic cell division and to cause MCPH4...
September 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28901431/isolated-chromosome-8p23-2%C3%A2-pter-deletion-novel-evidence-for-developmental-delay-intellectual-disability-microcephaly-and-neurobehavioral-disorders
#7
Shanshan Shi, Shaobin Lin, Baojiang Chen, Yi Zhou
The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2‑pter that was identified with a single‑nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intellectual disability (ID), microcephaly, autism spectrum disorder, attention‑deficit/hyperactivity disorders and mildly dysmorphic features. The location, size and gene content of the deletion observed in this patient were compared with those in 7 patients with isolated 8p23...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900143/a-unique-case-of-human-zika-virus-infection-in-association-with-severe-liver-injury-and-coagulation-disorders
#8
Yanhua Wu, Xiaoyun Cui, Na Wu, Rui Song, Wei Yang, Wei Zhang, Dongying Fan, Zhihai Chen, Jing An
Zika virus (ZIKV) has caused major concern globally due to its rapid dissemination and close association with microcephaly in children and Gullian-Barr syndrome in adults. In this study, we identified a patient returned from Cambodia who experienced high fever, chill and myalgia. Lab tests discovered sign of severe liver injury including significantly elevated serum transaminases' level, decreased serum albumin level, and markedly increased levels of lactic dehydrogenase, alpha-hydroxybutyric dehydrogenase and creatine kinase in serum...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28898891/new-insights-into-the-natural-history-of-congenital-zika-virus-syndrome
#9
María Guadalupe Lovagnini Frutos, José Héctor Ochoa, María Gabriela Barbás, Héctor Dante Lucchini, Martín Moya, Gustavo Malinger
We describe the prenatal evolution of the brain findings in a patient with proved Zika virus infection at 8 weeks of gestation showing the very early appearance at 17 weeks of ventriculomegaly and signs of brain parenchymal involvement without microcephaly. The involvement of the brain becomes more evident at 22 and 27 weeks with the apparition of calcifications and microcephaly. Interestingly, the postnatal findings failed to show significant worsening when compared to these prenatal findings.
September 13, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#10
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan, Natalie Canham
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing)...
September 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28898323/-pontocerebellar-hypoplasia-secondary-to-cask-gene-deletion-case-report
#11
Lucía Rivas, Óscar Blanco, Cristina Torreira, Alfredo Repáraz, Cristina Melcón, Alfonso Amado
INTRODUCTION: Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases. OBJECTIVE: To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28893652/a-new-threat-to-human-reproduction-system-posed-by-zika-virus-zikv-from-clinical-investigations-to-experimental-studies
#12
REVIEW
Xiangdong Li, Wenqiang Ma, Gary Wong, Shuoqian Ma, Shihua Li, Yuhai Bi, George F Gao
Zika virus (ZIKV) was first isolated in 1947 from a rhesus monkey in the Zika forest of Uganda. ZIKV has since been silently circulating in a number of equatorial countries for over 50 years. The largest outbreak in humans occurred in Brazil in 2015-2016. Unlike its flavivirus relatives, sexual and post-transfusion transmissions of ZIKV have been reported. In addition, fetal infection can result in microcephaly and congenital Zikv syndrome has been reported in neonates. Moreover, ZIKV RNA can persist for at least 6 months in semen and 11 weeks in vaginal secretions after the infection, suggesting potential tropism for the male and female genital tracts...
September 8, 2017: Virus Research
https://www.readbyqxmd.com/read/28893603/human-polyclonal-antibodies-produced-in-transchromosomal-cattle-prevent-lethal-zika-virus-infection-and-testicular-atrophy-in-mice
#13
Derek R Stein, Joseph W Golden, Bryan D Griffin, Bryce M Warner, Charlene Ranadheera, Leanne Scharikow, Angela Sloan, Kathy L Frost, Darwyn Kobasa, Stephanie A Booth, Matthew Josleyn, John Ballantyne, Eddie Sullivan, Jin-An Jiao, Hua Wu, Zhongde Wang, Jay W Hooper, David Safronetz
Zika virus (ZIKV) is rapidly spreading throughout the Americas and is associated with significant fetal complications, most notably microcephaly. Treatment with polyclonal antibodies for pregnant women at risk of ZIKV-related complications could be a safe alternative to vaccination. We found that large quantities of human polyclonal antibodies could be rapidly produced in transchromosomal bovines (TcB) and successfully used to protect mice from lethal infection. Additionally, antibody treatment eliminated ZIKV induced tissue damage in immunologically privileged sites such as the brain and testes and protected against testicular atrophy...
September 8, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28892560/mutations-of-kif14-cause-primary-microcephaly-by-impairing-cytokinesis
#14
Abubakar Moawia, Ranad Shaheen, Sajida Rasool, Syeda Seema Waseem, Nour Ewida, Birgit Budde, Amit Kawalia, Susanne Motameny, Kamal Khan, Ambrin Fatima, Muhammad Jameel, Farid Ullah, Talia Akram, Zafar Ali, Uzma Abdullah, Saba Irshad, Wolfgang Höhne, Angelika Anna Noegel, Mohammed Al-Owain, Konstanze Hörtnagel, Petra Stöbe, Shahid Mahmood Baig, Peter Nürnberg, Fowzan Sami Alkuraya, Andreas Hahn, Muhammad Sajid Hussain
OBJECTIVE: Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (Citron Rho-interacting kinase) - a component of the central spindle matrix, were added. We aimed at identifying novel MCPH-associated genes and exploring their functional role in pathogenesis. METHODS: Linkage analysis and whole-exome sequencing were performed in consanguineous and nonconsanguineous MCPH families to identify disease-causing variants...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28889139/bohring-opitz-syndrome-a-case-of-a-rare-genetic-disorder
#15
N Visayaragawan, N Selvarajah, H Apparau, V Kamaru Ambu
The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chromosomal analysis showed 46 xx -Bohring-Opitz Syndrome overlapped with C- syndrome. Goal-directed holistic care with integration of parent/carer training was started very early...
August 2017: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28887877/epidemiological-and-ecological-determinants-of-zika-virus-transmission-in-an-urban-setting
#16
José Lourenço, Maricelia Maia de Lima, Nuno Rodrigues Faria, Andrew Walker, Moritz Ug Kraemer, Christian Julian Villabona-Arenas, Ben Lambert, Erenilde Marques de Cerqueira, Oliver G Pybus, Luiz Cj Alcantara, Mario Recker
The Zika virus has emerged as a global public health concern. Its rapid geographic expansion is attributed to the success of Aedes mosquito vectors, but local epidemiological drivers are still poorly understood. Feira de Santana played a pivotal role in the Chikungunya epidemic in Brazil and was one of the first urban centres to report Zika infections. Using a climate-driven transmission model and notified Zika case data, we show that a low observation rate and high vectorial capacity translated into a significant attack rate during the 2015 outbreak, with a subsequent decline in 2016 and fade-out in 2017 due to herd-immunity...
September 9, 2017: ELife
https://www.readbyqxmd.com/read/28886345/rac1-missense-mutations-in-developmental-disorders-with-diverse-phenotypes
#17
Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, Wyatt W Yue, Perciliz L Tan, Katie Clarkson, Jill Clayton-Smith, Ken Corning, Julie R Jones, Wayne W K Lam, Grazia M S Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald Cohn, David Chitayat, Tom H Millard, Nicholas Katsanis, Han G Brunner, Siddharth Banka
RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c.470G>A (p...
September 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28884684/inhibition-of-dyrk1a-disrupts-neural-lineage-specification-in-human-pluripotent-stem-cells
#18
Stephanie F Bellmaine, Dmitry A Ovchinnikov, David T Manallack, Claire E Cuddy, Andrew G Elefanty, Edouard G Stanley, Ernst J Wolvetang, Spencer J Williams, Martin Pera
Genetic analysis has revealed that the dual specificity protein kinase DYRK1A has multiple roles in the development of the central nervous system. Increased DYRK1A gene dosage, such as occurs in Down syndrome, affects neural progenitor cell differentiation, while haploinsufficiency of DYRK1A is associated with severe microcephaly. Using a set of known and newly synthesized DYRK1A inhibitors, along with CRISPR-mediated gene activation and shRNA knockdown of DYRK1A, we show that chemical inhibition or genetic knockdown of DYRK1A interferes with neural specification of human pluripotent stem cells, a process equating to the earliest stage of human brain development...
September 8, 2017: ELife
https://www.readbyqxmd.com/read/28883880/semi-lobar-holoprosencephaly-with-vertebral-segmentation-defects
#19
Birendra Rai, Farhana Sharif
Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant was born at term by normal delivery. Birth head circumference was below the 3rd percentile. Antenatal scan had showed microcephaly as the only abnormality...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28883092/human-microcephaly-aspm-protein-is-a-spindle-pole-focusing-factor-that-functions-redundantly-with-cdk5rap2
#20
Elsa A Tungadi, Ami Ito, Tomomi Kiyomitsu, Gohta Goshima
Nonsense mutations in the ASPM gene have been most frequently identified among familial microcephaly patients. Depletion of the Drosophila orthologue causes spindle pole unfocusing during mitosis in multiple cell types. However, it remains unknown whether human ASPM has a similar function. Here, using CRISPR-based gene knockout (KO) and RNA interference combined with auxin-inducible degron, we show that ASPM functions in spindle pole organisation during mitotic metaphase redundantly with another microcephaly protein CDK5RAP2 (also called CEP215) in human tissue culture cells...
September 7, 2017: Journal of Cell Science
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