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https://www.readbyqxmd.com/read/28320130/spg2-mimicking-multiple-sclerosis-in-a-family-identified-using-next-generation-sequencing
#1
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico
Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28316128/skewed-x-chromosome-inactivation-plays-a-crucial-role-in-the-onset-of-symptoms-in-carriers-of-becker-muscular-dystrophy
#2
Emanuela Viggiano, Esther Picillo, Manuela Ergoli, Alessandra Cirillo, Stefania Del Gaudio, Luisa Politano
BACKGROUND: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting about 1:18,000 male births. Female carriers are usually asymptomatic, but 2.5-18% may present muscle or heart symptoms. In the present work the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy (DMD) carriers. METHODS: XCI was determined on the lymphocytes of 36 BMD carriers - both symptomatic and not symptomatic - from 11 families requiring genetic advice at the Cardiomyology and Medical Genetics of the Second University of Naples, through the AR methylation-based assay...
March 18, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28315662/insights-into-the-establishment-of-chromatin-states-in-pluripotent-cells-from-studies-of-x-inactivation
#3
REVIEW
Andreas Postlmayr, Anton Wutz
Animal development entails the sequential and coordinated specialisation of cells. During cell differentiation transcription factors, cell signalling pathways and chromatin associated protein complexes cooperate in regulating the expression of a large number of genes. Here we review the present understanding of the establishment of chromatin states by focusing on X chromosome inactivation (XCI) as a model for facultative heterochromatin formation in female embryonic cells. The inactive X chromosome (Xi) is large enough to be investigated by biochenical and microscopy techniques...
March 15, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28314697/demeanor-of-rivaroxaban-in-activated-inactivated-fxa
#4
Kaname Seki, Yosuke Mizuno, Toku Sakashita, Shintaro Nakano, Jun Tanno, Yasushi Okazaki, Toshihiro Muramatsu, Shigeyuki Nishimura, Takaaki Senbonmatsu
Activated factor X (FXa) plays an important role in thrombin generation and inflammation. Factor X is not converted constitutively to FXa, but only after intrinsic clotting factors are activated and/or cellular injury occurs. Although rivaroxaban is one of direct FXa inhibitors, its function in the inactivated coagulation cascade is unclear. In human umbilical vein endothelial cells that natively express protease-activated receptor-1 and -2, high dose rivaroxaban did not alter gene transcripts including pro-inflammatory genes in DNA microarray...
February 24, 2017: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/28302064/a-sibship-with-duplication-of-xq28-inherited-from-the-mother-genomic-characterization-and-clinical-outcomes
#5
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283)...
March 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#6
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28298606/dengue-virus-activates-the-amp-kinase-mtor-axis-to-stimulate-a-proviral-lipophagy
#7
Tristan X Jordan, Glenn Randall
Robust dengue virus (DENV) replication requires lipophagy, a selective autophagy that targets lipid droplets. The autophagic mobilization of lipids leads to increased β-oxidation in DENV-infected cells. The mechanism by which DENV induces lipophagy is unknown. Here, we show that infection with DENV activates the metabolic regulator 5' adenosine-monophosphate activated kinase (AMPK), and that the silencing or pharmacological inhibition of AMPK activity decreases DENV replication and the induction of lipophagy...
March 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28296148/dimp53-1-a-novel-small-molecule-dual-inhibitor-of-p53-mdm2-x-interactions-with-multifunctional-p53-dependent-anticancer-properties
#8
Joana Soares, Margarida Espadinha, Liliana Raimundo, Helena Ramos, Ana Sara Gomes, Sara Gomes, Joana B Loureiro, Alberto Inga, Flávio Reis, Célia Gomes, Maria M M Santos, Lucília Saraiva
The transcription factor p53 plays a crucial role in cancer development and dissemination, and thus p53-targeted therapies are amongst the most encouraging anticancer strategies. In human cancers with wild-type (wt) p53, its inactivation by interaction with murine double minute (MDM)2 and MDMX is a common event. Simultaneous inhibition of the p53 interaction with both MDMs is crucial to restore the tumor suppressor activity of p53. Here we describe the synthesis of the new tryptophanol-derived oxazoloisoindolinone DIMP53-1 and identify its activity as a dual inhibitor of the p53-MDM2/X interactions using a yeast-based assay...
March 10, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28294526/phase-1-dose-escalating-study-of-the-safety-pharmacokinetics-and-pharmacodynamics-of-activated-factor-x-i-16l
#9
Dana Parsons-Rich, Fei Hua, Gang Li, Constantino Kantaridis, Debra D Pittman, Steven Arkin
BACKGROUND: FXa(I16L) (PF-05230907) is a zymogen-like variant of activated coagulation factor X (FXa). It exhibits enhanced resistance to inactivation by endogenous inhibitors compared with wild-type FXa and restores hemostatic activity in nonclinical models of various bleeding conditions. OBJECTIVES: To evaluate the safety, pharmacokinetics (PK) and pharmacodynamics (PD) of FXa(I16L) , a phase 1, first-in-human, dose escalation clinical trial in healthy adult volunteers was conducted METHODS: Participants were assigned to 1 of 6 ascending single-dose cohorts (0...
March 14, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28284085/detection-of-turner-syndrome-using-x-chromosome-inactivation-specific-differentially-methylated-cpg-sites-a-pilot-study
#10
Qiang Zhang, Xiaohong Guo, Tian Tian, Teng Wang, Qiaoli Li, Lei Wang, Yun Liu, Qinghe Xing, Lin He, Xinzhi Zhao
BACKGROUND: Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. METHODS: The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay...
March 8, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28276530/overcoming-sorafenib-evasion-in-hepatocellular-carcinoma-using-cxcr4-targeted-nanoparticles-to-co-deliver-mek-inhibitors
#11
Yunching Chen, Ya-Chi Liu, Yun-Chieh Sung, Rakesh R Ramjiawan, Ts-Ting Lin, Chih-Chun Chang, Kuo-Shyang Jeng, Chiung-Fang Chang, Chun-Hung Liu, Dong-Yu Gao, Fu-Fei Hsu, Annique M Duyverman, Shuji Kitahara, Peigen Huang, Simona Dima, Irinel Popescu, Keith T Flaherty, Andrew X Zhu, Nabeel Bardeesy, Rakesh K Jain, Cyril H Benes, Dan G Duda
Sorafenib is a RAF inhibitor approved for several cancers, including hepatocellular carcinoma (HCC). Inhibition of RAF kinases can induce a dose-dependent "paradoxical" upregulation of the downstream mitogen-activated protein kinase (MAPK) pathway in cancer cells. It is unknown whether "paradoxical" ERK activation occurs after sorafenib therapy in HCC, and if so, if it impacts the therapeutic efficacy. Here, we demonstrate that RAF inhibition by sorafenib rapidly leads to RAF dimerization and ERK activation in HCCs, which contributes to treatment evasion...
March 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28275241/characterization-of-contiguous-gene-deletions-in-col4a6-and-col4a5-in-alport-syndrome-diffuse-leiomyomatosis
#12
Kandai Nozu, Shogo Minamikawa, Shiro Yamada, Masafumi Oka, Motoko Yanagita, Naoya Morisada, Shuichiro Fujinaga, China Nagano, Yoshimitsu Gotoh, Eihiko Takahashi, Takahiro Morishita, Tomohiko Yamamura, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Koichi Nakanishi, Igor Vorechovsky, Kazumoto Iijima
Alport syndrome-diffuse leiomyomatosis (AS-DL, OMIM: 308940) is a rare variant of the X-linked Alport syndrome that shows overgrowth of visceral smooth muscles in the gastrointestinal, respiratory and female reproductive tracts in addition to renal symptoms. AS-DL results from deletions that encompass the 5' ends of the COL4A5 and COL4A6 genes, but deletion breakpoints between COL4A5 and COL4A6 have been determined in only four cases. Here, we characterize deletion breakpoints in five AS-DL patients and show a contiguous COL4A6/COL4A5 deletion in each case...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28273668/large-duplications-can-be-benign-copy-number-variants-a-case-of-a-3-6-mb-xq21-33-duplication
#13
Marie-Laure Maurin, Chloé Arfeuille, Pascale Sonigo, Sophie Rondeau, Michel Vekemans, Catherine Turleau, Yves Ville, Valérie Malan
Segmental aneusomies are usually associated with clinical consequences, but an increasing number of nonpathogenic cytogenetically visible as well as large cryptic chromosomal imbalances have been reported. Here, we report a 3.6-Mb Xq21.33 microduplication detected prenatally on a female fetus which was inherited from a phenotypically normal mother and grandfather. It is assumed that male patients harboring Xq or Xp duplication present with syndromic intellectual disability because of functional disomy of the corresponding genes...
March 9, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28270595/differential-responses-of-rabbit-ventricular-and-atrial-transient-outward-current-ito-to-the-ito-modulator-ns5806
#14
Hongwei Cheng, Mark B Cannell, Jules C Hancox
Transient outward potassium current (Ito) in the heart underlies phase 1 repolarization of cardiac action potentials and thereby affects excitation-contraction coupling. Small molecule activators of Ito may therefore offer novel treatments for cardiac dysfunction, including heart failure and atrial fibrillation. NS5806 has been identified as a prototypic activator of canine Ito This study investigated, for the first time, actions of NS5806 on rabbit atrial and ventricular Ito Whole cell patch-clamp recordings of Ito and action potentials were made at physiological temperature from rabbit ventricular and atrial myocytes...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28264694/cell-specific-deletion-of-c1qa-identifies-microglia-as-the-dominant-source-of-c1q-in-mouse-brain
#15
Maria I Fonseca, Shu-Hui Chu, Michael X Hernandez, Melody J Fang, Lila Modarresi, Pooja Selvan, Grant R MacGregor, Andrea J Tenner
BACKGROUND: The complement cascade not only provides protection from infection but can also mediate destructive inflammation. Complement is also involved in elimination of neuronal synapses which is essential for proper development, but can be detrimental during aging and disease. C1q, required for several of these complement-mediated activities, is present in the neuropil, microglia, and a subset of interneurons in the brain. METHODS: To identify the source(s) of C1q in the brain, the C1qa gene was selectively inactivated in the microglia or Thy-1(+) neurons in both wild type mice and a mouse model of Alzheimer's disease (AD), and C1q synthesis assessed by immunohistochemistry, QPCR, and western blot analysis...
March 6, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28263898/natural-sorbents-modified-by-divalent-cu-2-and-zn-2-ions-and-their-corresponding-antimicrobial-activity
#16
Maja B Đolić, Vladana N Rajaković-Ognjanović, Svetlana B Štrbac, Suzana I Dimitrijević, Miodrag N Mitrić, Antonije E Onjia, Ljubinka V Rajaković
The objective of this study was to investigate the modification of materials used in wastewater treatment for possible antimicrobial application(s). Granulated activated carbon (GAC) and natural clinoptilolite (CLI) were activated using Cu(2+)- and Zn(2+)- ions and the disinfection ability of the resulting materials was tested. Studies of the sorption and desorption kinetics were performed in order to determine and clarify the antimicrobial activity of the metal-activated sorbents. The exact sorption capacities of the selected sorbents, GAC and CLI, activated through use of Cu(2+)- ions, were 15...
March 2, 2017: New Biotechnology
https://www.readbyqxmd.com/read/28263769/development-of-xanthophyllomyces-dendrorhous-as-a-production-system-for-the-colorless-carotene-phytoene
#17
Hendrik Pollmann, Jürgen Breitenbach, Gerhard Sandmann
Phytoene is a colorless carotenoid with increasing economic potential for skin care but with limited availability. The red yeast Xanthophyllomyces dendrorhous which has previously been used as a production platform for carotenoids was engineered as a prototype for the yield of this carotene. Phytoene was accumulated by prevention of its metabolization by desaturation in the carotenoid pathway. In a first step, the phytoene desaturase gene crtI was disrupted by insertion of a hygromycin-resistance gene. Most of the resulting transformants were heterozygote for intact and inactivated crtI...
March 3, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28261277/gene-therapy-for-primary-immune-deficiencies-a-canadian-perspective
#18
REVIEW
Xiaobai Xu, Chetankumar S Tailor, Eyal Grunebaum
The use of gene therapy (GT) for the treatment of primary immune deficiencies (PID) including severe combined immune deficiency (SCID) has progressed significantly in the recent years. In particular, long-term studies have shown that adenosine deaminase (ADA) gene delivery into ADA-deficient hematopoietic stem cells that are then transplanted into the patients corrects the abnormal function of the ADA enzyme, which leads to immune reconstitution. In contrast, the outcome was disappointing for patients with X-linked SCID, Wiskott-Aldrich syndrome and chronic granulomatous disease who received GT followed by autologous gene corrected transplantations, as many developed hematological malignancies...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28259939/the-role-of-zfp580-a-novel-zinc-finger-protein-in-tgf-mediated-cytoprotection-against-chemical-hypoxia%C3%A2-induced-apoptosis-in-h9c2-cardiac-myocytes
#19
Shi-Yun Mao, Xiang-Yan Meng, Zhong-Wei Xu, Wen-Cheng Zhang, Xiao-Han Jin, Xi Chen, Xin Zhou, Yu-Ming Li, Rui-Cheng Xu
Zing finger protein 580 (ZFP580) is a novel Cys2-His2 zinc-finger transcription factor that has an anti-apoptotic role in myocardial cells. It is involved in the endothelial transforming growth factor‑β1 (TGF‑β1) signal transduction pathway as a mothers against decapentaplegic homolog (Smad)2 binding partner. The aim of the present study was to determine the involvement of ZFP580 in TGF‑β1‑mediated cytoprotection against chemical hypoxia‑induced apoptosis, using H9c2 cardiac myocytes. Hypoxia was chemically induced in H9c2 myocardial cells by exposure to cobalt chloride (CoCl2)...
February 22, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28257338/expansion-of-the-phenotypic-spectrum-in-three-families-of-methyl-cpg-binding-protein-2-duplication-syndrome
#20
Amita Moirangthem, Moni Tuteja Bhatia, Priyanka Srivastava, Kausik Mandal, Archana Rai, Shubha R Phadke
The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is characterized by hypotonia, developmental delay, spasticity, seizures, and recurrent infections. It is fully penetrant in males and the females can have varied manifestations because of skewed X-inactivation. The size of the duplication can range from 0.2 Mb to over 100 Mb. Around 150 cases have been reported in the literature so far. Here, we report the unusual findings in three cases such as hepatomegaly, ataxia and females with mild intellectual disability that further expand the phenotypic spectrum of this disorder...
April 2017: Clinical Dysmorphology
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