keyword
MENU ▼
Read by QxMD icon Read
search

ZBTB18

keyword
https://www.readbyqxmd.com/read/28749472/retinoic-acid-induced-upregulation-of-mir-219-promotes-the-differentiation-of-embryonic-stem-cells-into-neural-cells
#1
Haibo Wu, Jiamin Zhao, Beibei Fu, Songna Yin, Chao Song, Jingcheng Zhang, Shanting Zhao, Yong Zhang
MicroRNAs (miRNAs) regulate critical cell processes, such as apoptosis, proliferation, and development. However, the role of miRNAs in embryonic stem cell (ESC) neural differentiation induced by retinoic acid (RA) and factors that govern neural directional differentiation remain poorly understood. In this study, we demonstrated that miR-219 is sufficient in promoting mouse ESCs to undergo neural differentiation. We discovered that Foxj3 and Zbtb18, two target genes of miR-219, are not able to determine the process of RA-induced differentiation, however they prevent ESCs from differentiating into neural cells...
July 27, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28512252/epigenetic-regulation-of-zbtb18-promotes-glioblastoma-progression
#2
Vita Fedele, Fangping Dai, Anie P Masilamani, Dieter H Heiland, Eva Kling, Ana M Gätjens-Sanchez, Roberto Ferrarese, Leonardo Platania, Doostkam Soroush, Hyunsoo Kim, Sven Nelander, Astrid Weyerbrock, Marco Prinz, Andrea Califano, Antonio Iavarone, Markus Bredel, Maria S Carro
Glioblastoma (GBM) comprises distinct subtypes characterized by their molecular profile. Mesenchymal identity in GBM has been associated with a comparatively unfavorable prognosis, primarily due to inherent resistance of these tumors to current therapies. The identification of molecular determinants of mesenchymal transformation could potentially allow for the discovery of new therapeutic targets. Zinc Finger and BTB Domain Containing 18 (ZBTB18/ZNF238/RP58) is a zinc finger transcriptional repressor with a crucial role in brain development and neuronal differentiation...
May 16, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28506232/rp58-and-p27-kip1-coordinate-cell-cycle-exit-and-neuronal-migration-within-the-embryonic-mouse-cerebral-cortex
#3
Olivier Clément, Isabel Anne Hemming, Ivan Enghian Gladwyn-Ng, Zhengdong Qu, Shan Shan Li, Michael Piper, Julian Ik-Tsen Heng
BACKGROUND: During the development of the mammalian cerebral cortex, newborn postmitotic projection neurons are born from local neural stem cells and must undergo radial migration so as to position themselves appropriately to form functional neural circuits. The zinc finger transcriptional repressor Rp58 (also known as Znf238 or Zbtb18) is critical for coordinating corticogenesis, but its underlying molecular mechanism remains to be better characterised. FINDINGS: Here, we demonstrate that the co-expression of Rp58 and the cyclin dependent kinase inhibitor (CDKI) p27(kip1) is important for E14...
May 15, 2017: Neural Development
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#4
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28380430/novel-rna-biomarkers-of-prostate-cancer-revealed-by-rna-seq-analysis-of-formalin-fixed-samples-obtained-from-russian-patients
#5
Anastasia S Nikitina, Elena I Sharova, Svetlana A Danilenko, Tatiana B Butusova, Alexandr O Vasiliev, Alexandr V Govorov, Elena A Prilepskaya, Dmitry Y Pushkar, Elena S Kostryukova
Due to heterogeneous multifocal nature of prostate cancer (PCa), there is currently a lack of biomarkers that stably distinguish it from benign prostatic hyperplasia (BPH), predict clinical outcome and guide the choice of optimal treatment. In this study RNA-seq analysis was applied to formalin-fixed paraffin-embedded (FFPE) tumor and matched normal tissue samples collected from Russian patients with PCa and BPH. We identified 3384 genes differentially expressed (DE) (FDR < 0.05) between tumor tissue of PCa patients and adjacent normal tissue as well as both tissue types from BPH patients...
May 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#6
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#7
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
June 15, 2017: Gene
https://www.readbyqxmd.com/read/28283832/genetic-and-phenotypic-dissection-of-1q43q44-microdeletion-syndrome-and-neurodevelopmental-phenotypes-associated-with-mutations-in-zbtb18-and-hnrnpu
#8
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B Agrawal, Grace VanNoy, Joan M Stoler, David J Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie-Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S Møller, Deb Pal, Tord Jonson, Maria Soller, Nienke E Verbeek, Mieke M van Haelst, Carolien de Kovel, Bobby Koeleman, Glen Monroe, Gijs van Haaften, Tania Attié-Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/27598823/further-evidence-that-de-novo-missense-and-truncating-variants-in-zbtb18-cause-intellectual-disability-with-variable-features
#9
J S Cohen, S Srivastava, K D Farwell Hagman, D N Shinde, R Huether, D Darcy, R Wallerstein, G Houge, S Berland, K G Monaghan, A Poretti, A L Wilson, W K Chung, A Fatemi
Identification of rare genetic variants in patients with intellectual disability (ID) has been greatly accelerated by advances in next generation sequencing technologies. However, due to small numbers of patients, the complete phenotypic spectrum associated with pathogenic variants in single genes is still emerging. Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who typically present with ID, microcephaly, corpus callosum (CC) abnormalities, and seizures. Here we provide additional evidence for haploinsufficiency or dysfunction of the ZBTB18 gene as the cause of ID in five unrelated patients with variable syndromic features who underwent whole exome sequencing revealing separate de novo pathogenic or likely pathogenic variants in ZBTB18 (two missense alterations and three truncating alterations)...
May 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27389196/a-comparison-of-sample-collection-methods-for-quantifying-cell-free-fetal-neurodevelopment-transcripts-in-amniotic-fluid
#10
COMPARATIVE STUDY
Lisa Hui, Stephen Tong, Tu'Uhevaha J Kaitu'u-Lino, Natalie J Hannan
BACKGROUND: Cell-free RNA (cfRNA) transcripts known to be expressed by the fetal brain are detectable by quantitative reverse transcription PCR (RT-qPCR) in amniotic fluid and represent potential biomarkers of neurodevelopment. The aim of this study was to compare the cfRNA yields from amniotic fluid (AF) collected in a commercial RNA stabilization product with the traditional method of freezing alone. FINDINGS: Thirteen women undergoing elective Cesarean birth at term without labor had whole AF collected at the time of uterine incision, prior to membrane rupture...
July 7, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/24193349/a-de-novo-non-sense-mutation-in-zbtb18-in-a-patient-with-features-of-the-1q43q44-microdeletion-syndrome
#11
Sonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, Bregje W van Bon, Kym M Boycott, Jeroen Schoots, Lies H Hoefsloot, Nine V A M Knoers, Ernie M H F Bongers, Han G Brunner
The phenotype of patients with a chromosome 1q43q44 microdeletion (OMIM; 612337) is characterized by intellectual disability with no or very limited speech, microcephaly, growth retardation, a recognizable facial phenotype, seizures, and agenesis of the corpus callosum. Comparison of patients with different microdeletions has previously identified ZBTB18 (ZNF238) as a candidate gene for the 1q43q44 microdeletion syndrome. Mutations in this gene have not yet been described. We performed exome sequencing in a patient with features of the 1q43q44 microdeletion syndrome that included short stature, microcephaly, global developmental delay, pronounced speech delay, and dysmorphic facial features...
June 2014: European Journal of Human Genetics: EJHG
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"