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Journal of Genetic Syndrome & Gene Therapy

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https://www.readbyqxmd.com/read/27722032/parp1-differentially-interacts-with-promoter-region-of-dux4-gene-in-fshd-myoblasts
#1
Vishakha Sharma, Sachchida Nand Pandey, Hunain Khawaja, Kristy J Brown, Yetrib Hathout, Yi-Wen Chen
OBJECTIVE: The goal of the study is to identity proteins, which interact with the promoter region of double homeobox protein 4 (DUX4) gene known to be causative for the autosomal dominant disorder Facioscapulohumeral Muscular Dystrophy (FSHD). METHODS: We performed a DNA pull down assay coupled with mass spectrometry analysis to identify proteins that interact with a DUX4 promoter probe in Rhabdomyosarcomca (RD) cells. We selected the top ranked protein poly (ADP-ribose) polymerase 1 (PARP1) from our mass spectrometry data for further ChIP-qPCR validation using patients' myoblasts...
August 2016: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/27081574/natural-compounds-as-therapeutic-agents-in-the-treatment-cystic-fibrosis
#2
Isha Dey, Kalpit Shah, Neil A Bradbury
The recent FDA approval of two drugs to treat the basic defect in cystic fibrosis has given hope to patients and their families battling this devastating disease. Over many years, with heavy financial investment from Vertex Pharmaceuticals and the Cystic Fibrosis Foundation, pre-clinical evaluation of thousands of synthetic drugs resulted in the production of Kalydeco and Orkambi. Yet, despite the success of this endeavor, many other compounds have been proposed as therapeutic agents in the treatment of CF...
February 2016: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/26798564/novel-mutation-deletion-in-the-phox2b-gene-of-the-patient-diagnosed-with-neuroblastoma-hirschsprung-s-disease-and-congenital-central-hypoventilation-syndrome-nb-hscr-cchs-cluster
#3
Izabela Szymońska, Thore Langfeldt Borgenvik, Tina Margrethe Karlsvik, Anders Halsen, Bianka Kathryn Malecki, Sindre Ervik Saetre, Mateusz Jagła, Piotr Kruczek, Anna Madetko Talowska, Grażyna Drabik, Magdalena Zasada, Marek Malecki
INTRODUCTION: Neuroblastoma (NB), Hirschsprung disease (HSCR), Congenital Central Hypoventilation Syndrome (CCHS), clinically referred as the NB-HSCR-CCHS cluster, are genetic disorders linked to mutations in the PHOX2B gene on chromosome 4p12. SPECIFIC AIM: The specific aim of this project is to define the PHOX2B gene mutations as the genomic basis for the clinical manifestations of the NB-HSCR-CCHS cluster. PATIENT: A one day old male patient presented to the Jagiellonian University Medical College (JUMC), American Children Hospital, neonatal Intensive Care Unit (ICU) due to abdominal distention, vomiting, and severe apneic episodes...
December 2015: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/27840774/elements-involved-in-promoting-eosinophilic-gastrointestinal-disorders
#4
Anshi Shukla, Akanksha Mishra, Sathisha Upparahalli Venkateshaiah, Murli Manohar, Chandrashekara Puthanapura Mahadevappa, Anil Mishra
Eosinophilic gastrointestinal disorders (EGID) are food allergen-induced allergic gastrointestinal disorders, characterized by accumulation of highly induced eosinophils in different segments of gastrointestinal tract along with eosinophil microabssess and extracellular eosinophilic granules in the epithelial layer. EGID are both IgE- and cell-mediated group of diseases that include eosinophilic esophagitis (EoE), eosinophilic gastritis (EG), eosinophilic gastroenteritis (EGE) and eosinophilic colitis (EC)...
August 2015: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24883230/a-multi-locus-approach-to-treating-fibromyalgia-by-boosting-dopaminergic-activity-in-the-meso-limbic-system-of-the-brain
#5
Kenneth Blum, Marlene Oscar-Berman, Roger L Waite, Eric R Braverman, Florian Kreuk, Mona Li, Kristina Dushaj, Margaret A Madigan, Mary Hauser, Thomas Simpatico, Debmalya Barh
No abstract text is available yet for this article.
January 27, 2014: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24772377/apolipoprotein-gene-polymorphisms-apob-apoc111-apoe-in-the-development-of-coronary-heart-disease-in-ethnic-groups-of-kazakhstan
#6
S Berkinbayev, M Rysuly, A Mussayev, K Blum, N Baitasova, A Mussagaliyeva, G Dzhunusbekova, B Makhatov, Aa Mussayev, A Yeshmanova, R Lesbekova, Y Marchuk, R Azhibekova, M Oscar-Berman, M Kulmaganbetov
BACKGROUND: Previous Analysis of polymorphism of genes associated with the development of coronary heart disease (CHD) reveals that the frequency distribution of genotypes and alleles depends on the ethnic characteristics of the populations under study. Further impetus is derived from the well -established links between alcoholism (high prevalence in Kazakhstan region) and cardiovascular disorders. OBJECTIVES: The purpose of this study was to examine a number of apolipoprotein gene polymorphisms and correlate these alleles with changes of lipid profile in CHD patients of Kazakh and Uyghur nationalities...
January 24, 2014: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/25309816/preliminary-hormonal-correlations-in-female-patients-as-a-function-of-somatic-and-neurological-symptom-clusters-an-exploratory-development-of-a-multi-hormonal-map-for-bio-identical-replacement-therapy-mhrt
#7
Eric R Braverman, Marlene Oscar-Berman, Florian Kreuk, Mallory Kerner, Kristina Dushaj, Mona Li, Danielle Stratton, Courtney Trudesdell, Kenneth Blum
Females develop multiple hormonal alterations and certain genes may be involved in the intensity of subsequent symptoms including both mood and drug seeking. Seventy Four (74) females were included (mean age=60.23, SD=9.21, [43-87]). A medical evaluation was completed with hormone screening using a number of statistical analyses such as Pearson product moment; one way ANOVA and Regression analysis along with a Bonferroni significance correction p<.004. Of 120 correlations performed, significant hormone/domain correlations were as follows: DHEA/Genitourinary (r=...
December 6, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24563812/microtubule-defects-neurodegeneration
#8
Fiona J Baird, Craig L Bennett
One of the major challenges facing the long term survival of neurons is their requirement to maintain efficient axonal transport over long distances. In humans as large, long-lived vertebrates, the machinery maintaining neuronal transport must remain efficient despite the slow accumulation of cell damage during aging. Mutations in genes encoding proteins which function in the transport system feature prominently in neurologic disorders. Genes known to cause such disorders and showing traditional Mendelian inheritance have been more readily identified...
December 6, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24932421/acute-myeloid-leukaemia-after-treatment-for-acute-lymphoblastic-leukaemia-in-girl-with-bloom-syndrome
#9
Madeleine Adams, Meriel Jenney, Laz Lazarou, Rhian White, Sanda Birdsall, Timo Staab, Detlev Schindler, Stefan Meyer
Bloom syndrome (BS) is an inherited genomic instability disorder caused by disruption of the BLM helicase and confers an extreme cancer predisposition. Here we report on a girl with BS who developed acute lymphoblastic leukaemia (ALL) at age nine, and treatment-related acute myeloid leukaemia (t-AML) aged 12. She was compound heterozygous for the novel BLM frameshift deletion c.1624delG and the previously described c.3415C>T nonsense mutation. Two haematological malignancies in a child with BS imply a fundamental role for BLM for normal haematopoiesis, in particular in the presence of genotoxic stress...
September 18, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24294541/suicide-gene-therapy-for-cancer-current-strategies
#10
Paul Zarogoulidis, Kaid Darwiche, Antonios Sakkas, Lonny Yarmus, Haidong Huang, Qiang Li, Lutz Freitag, Konstantinos Zarogoulidis, Marek Malecki
Current cancer treatments may create profound iatrogenic outcomes. The adverse effects of these treatments still remain, as the serious problems that practicing physicians have to cope with in clinical practice. Although, non-specific cytotoxic agents constitute an effective treatment modality against cancer cells, they also tend to kill normal, quickly dividing cells. On the other hand, therapies targeting the genome of the tumors are both under investigation, and some others are already streamlined to clinical practice...
August 9, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24587967/eradication-of-human-ovarian-cancer-cells-by-transgenic-expression-of-recombinant-dnase1-dnase1l3-dnase2-and-dffb-controlled-by-egfr-promoter-novel-strategy-for-targeted-therapy-of-cancer
#11
Marek Malecki, Jessica Dahlke, Melissa Haig, Lynn Wohlwend, Raf Malecki
INTRODUCTION: Ovarian cancer is the most deadly among all gynecological cancers. Patients undergoing systemic therapies of advanced ovarian cancers suffer from horrendous side effects. Cancer survivors and their offspring suffer from iatrogenic consequences of systemic therapies: genetic mutations. The ultimate goal of our work is development of therapies, which selectively and completely eliminate cancer cells, but do not harm healthy cells. An important consideration for attaining this goal is the fact that ovarian cancer cells over-express EGFR or its mutants, what becomes the factor discriminating them from healthy cells - a potential facilitator of personalized therapy...
July 21, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24349872/critical-factors-in-measuring-angiogenesis-using-the-aortic-ring-model
#12
G De Rossi, Rs Scotland, Jr Whiteford
Angiogenesis is a feature of numerous pathologies including cancer and inflammatory conditions and as such is key therapeutic target for the treatment of disorders where excessive or insufficient formation of new blood vessels occurs. The study of angiogenesis in vivo provides many challenges, however the growth of new blood vessels in vitro from aortic explants has provided a highly useful model for the study of this process. In this manuscript we examine the critical factors which can affect this assay and demonstrate that aortas from both female rats and mice exhibit a reduced angiogenic response to males...
June 17, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24416635/gross-cystic-disease-fluid-protein-15-gcdfp-15-prolactin-inducible-protein-pip-as-functional-salivary-biomarker-for-primary-sj%C3%A3-gren-s-syndrome
#13
A Gallo, D Martini, F Sernissi, C Giacomelli, P Pepe, C Rossi, Pp Riveros, M Mosca, I Alevizos, C Baldini
BACKGROUND: Gross cystic disease fluid protein-15(GCDFP-15)/prolactin-inducible protein (PIP) is a secretory acinar glycoprotein of 14 KDa which we have recently described as significantly lower in salivary samples of patients with primary Sjögren's syndrome (pSS) in comparison to healthy volunteers by proteomic analysis. AIMS OF THE STUDY: (1) to validate our previous data on the decrease of GCDFP-15/PIP protein in a larger number of subjects with pSS (2) to integrate the proteomic results with complementary immunoassays in order better clarify the pathophysiological relevance of GCDFP-15/PIP in pSS exocrinopathy (3) to assess both the glandular expression of the GCDFP-15/PIP and the levels of glandular GCDFP-15/PIP mRNA in the patients' minor salivary gland (MSG) biopsies in order to verify whether the observed reduction of GCDFP-15/PIP in saliva may be related to a decrease in the protein production...
June 15, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24077767/have-we-hatched-the-addiction-egg-reward-deficiency-syndrome-solution-system%C3%A2
#14
Bw Downs, M Oscar-Berman, Rl Waite, Ma Madigan, J Giordano, T Beley, S Jones, T Simpatico, M Hauser, J Borsten, F Marcelo, Er Braverman, R Lohmann, K Dushaj, M Helman, D Barh, St Schoenthaler, D Han, K Blum
This article co-authored by a number of scientists, ASAM physicians, clinicians, treatment center owners, geneticists, neurobiologists, psychologists, social workers, criminologists, nurses, nutritionist, and students, is dedicated to all the people who have lost loved ones in substance-abuse and "reward deficiency syndrome" related tragedies. Why are we failing at reducing the incidence of 'Bad Behaviors'? Are we aiming at the wrong treatment targets for behavioral disorders? We are proposing a paradigm shift and calling it "Reward Deficiency Solution System" providing evidence for its adoption...
June 3, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24883229/adenoviral-vectors-for-hemophilia-gene-therapy
#15
N Brunetti-Pierri, Philip Ng
Hemophilia is an inherited blood clotting disorder resulting from deficiency of blood coagulation factors. Current standard of care for hemophilia patients is frequent intravenous infusions of the missing coagulation factor. Gene therapy for hemophilia involves the introduction of a normal copy of the deficient coagulation factor gene thereby potentially offering a definitive cure for the bleeding disorder. A variety of approaches have been pursued for hemophilia gene therapy and this review article focuses on those that use adenoviral vectors...
April 30, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/24319629/improved-adeno-associated-viral-gene-transfer-to-murine-glioma
#16
I Zolotukhin, D Luo, Os Gorbatyuk, Be Hoffman, Kh Warrington, Rw Herzog, Jk Harrison, O Cao
Glioblastoma (GBM) is a deadly primary brain tumor. Current treatment, consisting of surgical removal of the tumor mass followed by chemotherapy and/or radiotherapy, does not significantly prolong survival. Gene therapies for GBM are being developed in clinical trials, for example using adenoviral vectors. While adeno-associated virus (AAV) represents an alternative vector system, limited gene transfer to glioma cells has hampered its use. Here, we evaluated newly emerged variants of AAV capsid for gene delivery to murine glioma...
April 29, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/23826512/pharmacotherapies-for-overeating-and-obesity
#17
S Yarnell, M Oscar-Berman, Nm Avena, K Blum, Ms Gold
Obesity has become pandemic, and the annual cost in related illnesses and loss of productivity is already over $100 billion and rising. Research has shown that obesity can and does cause changes in behavior and in the brain itself that are very similar to changes caused by drugs of abuse. While food addiction is not the causal agent of all obesity, it is clear that many people no longer eat to survive, but instead survive to eat. This review considers the importance of the brain's reward system in food intake...
April 1, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/23750325/the-molecular-chaperone-grp78-bip-as-a-therapeutic-target-for-neurodegenerative-disorders-a-mini-review
#18
Marina S Gorbatyuk, Oleg S Gorbatyuk
The glucose regulated protein 78 (GRP78), also known as BiP, is the endoplasmatic reticulum (ER) homologue of HSP70, which plays a dual role in the ER by controlling protein folding, in order to prevent aggregation, and by regulating the signaling of the unfolded protein response (UPR). Most neurodegenerative disorders including Parkinson's, Alzheimer's diseases and progressive retinal degeneration are characterized by activation of the UPR and modified expression of GRP78. The expression levels and activity of GRP78 are altered with age raising the question of whether the lack of GRP78 could be a predisposing factor for many neurodegenerative disorders associated with age including PD, Alzheimer and Age-related macular degeneration...
March 11, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/23565345/epigenetic-modulation-of-mood-disorders
#19
T Archer, M Oscar-Berman, K Blum, Ms Gold
BACKGROUND: Mood disorders are expressed in many heterogeneous forms, varying from anxiety to severe major clinical depression. The disorders are expressed in individual variety through manifestations governed by co-morbidities, symptom frequency, severity, and duration, and the effects of genes on phenotypes. The underlying etiologies of mood disorders consist of complex interactive operations of genetic and environmental factors. The notion of endophenotypes, which encompasses the markers of several underlying liabilities to the disorders, may facilitate efforts to detect and define, through staging, the genetic risks inherent to the extreme complexity of disease state...
February 11, 2013: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/23543775/dopamine-genetics-and-function-in-food-and-substance-abuse
#20
K Blum, M Oscar-Berman, D Barh, J Giordano, Ms Gold
Having entered the genomics era with confidence in the future of medicine, including psychiatry, identifying the role of DNA and polymorphic associations with brain reward circuitry has led to a new understanding of all addictive behaviors. It is noteworthy that this strategy may provide treatment for the millions who are the victims of "Reward Deficiency Syndrome" (RDS) a genetic disorder of brain reward circuitry. This article will focus on drugs and food being mutuality addictive, and the role of dopamine genetics and function in addictions, including the interaction of the dopamine transporter, and sodium food...
February 10, 2013: Journal of Genetic Syndrome & Gene Therapy
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