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https://www.readbyqxmd.com/read/29149408/function-of-translationally-controlled-tumor-protein-in-organ-growth-lessons-from-drosophila-studies
#1
Kwang-Wook Choi, Sung-Tae Hong, Thao Phuong Le
Regulation of cell growth and proliferation is crucial for development and function of organs in all animals. Genetic defects in growth control can lead to developmental disorders and cancers. Translationally controlled tumor protein (TCTP) is a family of evolutionarily conserved proteins implicated in cancer. Recent studies have revealed multiple roles of TCTP in diverse cellular events, but TCTP functions in vivo are poorly understood in vertebrate systems. We have used Drosophila melanogaster, the fruit fly, as a model organism for genetic dissection of Tctp function...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/29149249/human-accelerated-regions-and-other-human-specific-sequence-variations-in-the-context-of-evolution-and-their-relevance-for-brain-development
#2
Anastasia Levchenko, Alexander Kanapin, Anastasia Samsonova, Raul Gainetdinov
The review discusses, in a format of a timeline, the studies of different types of genetic variants, present in Homo sapiens, but absent in all other primate, mammalian or vertebrate species, tested so far. The main characteristic of these variants is that they are found in regions of high evolutionary conservation. These sequence variations include single nucleotide substitutions (called human accelerated regions), deletions and segmental duplications. The rationale for finding such variations in the human genome is that they could be responsible for traits, specific to our species, of which the human brain is the most remarkable...
November 14, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29149222/personalized-medicine-and-hispanic-health-improving-health-outcomes-and-reducing-health-disparities-a-national-heart-lung-and-blood-institute-workshop-report
#3
M Larissa Avilés-Santa, John Heintzman, Nangel M Lindberg, Rafael Guerrero-Preston, Kenneth Ramos, Ana L Abraído-Lanza, Jonca Bull, Adolph Falcón, Mary Ann McBurnie, Ernest Moy, George Papanicolaou, Ileana L Piña, Jennifer Popovic, Shakira F Suglia, Miguel A Vázquez
Persons of Hispanic/Latino descent may represent different ancestries, ethnic and cultural groups and countries of birth. In the U.S., the Hispanic/Latino population is projected to constitute 29% of the population by 2060. A personalized approach focusing on individual variability in genetics, environment, lifestyle and socioeconomic determinants of health may advance the understanding of some of the major factors contributing to the health disparities experienced by Hispanics/Latinos and other groups in the U...
2017: BMC Proceedings
https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#4
Mariam M Al Eissa, Alessia Fiorentino, Sally I Sharp, Niamh L O'Brien, Kate Wolfe, Giovanni Giaroli, David Curtis, Nicholas J Bass, Andrew McQuillin
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas-control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC-51-like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29148382/high-abundance-and-genetic-variability-of-atypical-porcine-pestivirus-in-pigs-from-europe-and-asia
#5
Alexander Postel, Denise Meyer, Gökce Nur Cagatay, Francesco Feliziani, Gian Mario De Mia, Nicole Fischer, Adam Grundhoff, Vesna Milićević, Ming-Chung Deng, Chia-Yi Chang, Hua-Ji Qiu, Yuan Sun, Michael Wendt, Paul Becher
Atypical porcine pestivirus (APPV) was recently reported to be associated with neurologic disorders in newborn piglets. Investigations of 1,460 serum samples of apparently healthy pigs from different parts of Europe and Asia demonstrate a geographically wide distribution of genetically highly variable APPV and high APPV genome and antibody detection rates.
December 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29148080/genetic-risk-factors-for-perception-of-symptoms-in-gerd-an-observational-cohort-study
#6
A Patel, S Hasak, B D Nix, G S Sayuk, R D Newberry, C P Gyawali
BACKGROUND: Genetic polymorphisms in G-protein beta-3 subunit (GNβ3) and beta-2 adrenergic receptor (ADRB2) are associated with pain and gut hypersensitivity, which can overlap with gastroesophageal reflux disease (GERD). AIM: To evaluate relationships between single nucleotide polymorphisms (SNPs) within GNβ3 and ADRB2 systems, and reflux symptom burden, GERD phenotypes from ambulatory reflux monitoring, and quality of life. METHODS: Symptomatic adults undergoing ambulatory reflux testing were recruited and phenotyped based on acid burden and symptom reflux association; major oesophageal motor disorders and prior foregut surgery were exclusions...
November 17, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29147782/common-functional-variants-of-the-glutamatergic-system-in-autism-spectrum-disorder-with-high-and-low-intellectual-abilities
#7
Andreas G Chiocchetti, Afsheen Yousaf, Hannah S Bour, Denise Haslinger, Regina Waltes, Eftichia Duketis, Tomas Jarczok, Michael Sachse, Monica Biscaldi, Franziska Degenhardt, Stefan Herms, Sven Cichon, Jörg Ackermann, Ina Koch, Sabine M Klauck, Christine M Freitag
The genetic architecture underlying Autism spectrum disorder (ASD) has been suggested to differ between individuals with lower (IQ ≤ 70; LIQ) and higher intellectual abilities (IQ > 70; HIQ). Among the identified pathomechanisms, the glutamatergic signalling pathway is of specific interest in ASD. We investigated 187 common functional variants of this neurotransmitter system for association with ASD and with symptom severity in two independent samples, a German (German-ALL: N = 583 families) and the Autism Genome Project cohort (AGP-ALL: N = 2001 families), split into HIQ, and LIQ subgroups...
November 16, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29147633/a-unique-case-of-carotid-splaying-by-a-cervical-vagal-neurofibroma-and-the-role-of-neuroradiology-in-surgical-management
#8
Sally A Itawi, Mark Buehler, Robert E Mrak, Tarek R Mansour, Yacine Medhkour, Azedine Medhkour
Carotid splaying, also known as the Lyre sign, is a widening of the carotid bifurcation due to the displacement of the internal carotid artery and the external carotid artery just distal to the point of divergence. This phenomenon is classically exhibited by highly vascularized carotid body tumors and, in rare cases, by cervical sympathetic chain schwannomas. Demonstration of the Lyre sign by a cervical vagal neurofibroma, however, is a unique occurrence that has not been previously documented in the literature...
September 7, 2017: Curēus
https://www.readbyqxmd.com/read/29146952/migrainomics-identifying-brain-and-genetic-markers-of-migraine
#9
REVIEW
Dale R Nyholt, David Borsook, Lyn R Griffiths
Migraine is one of the world's most prevalent and disabling disorders and imposes an enormous socioeconomic burden. The exact causes of migraine are unknown, and no recognizable diagnostic pathological changes have been identified. Specific identifiable markers of migraine would aid diagnosis and could provide insight into the pathogenesis of the condition, with the potential to direct development of new therapeutics. In the past few years, advances in neuroimaging and genetic studies have provided the most substantial progress towards the identification of markers...
November 17, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germline-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#10
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Naddia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% bone marrow blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germline mutation in 86 patients (48...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29146700/phenotypic-spectrum-of-children-with-nephronophthisis-and-related-ciliopathies
#11
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146545/werner-syndrome-wrn-gene-variants-and-their-association-with-altered-function-and-age-associated-diseases
#12
REVIEW
Michel Lebel, Raymond J Monnat
Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the human RECQ gene family that contains both a DNA exonuclease and a helicase domain. WRN has been shown to participate in several DNA metabolic pathways including DNA replication, recombination and repair, as well as telomere maintenance and transcription modulation. Here we review base pair-level genetic variation that has been documented in WRN, with an emphasis on non-synonymous coding single nucleotide polymorphisms (SNPs) and their associations with anthropomorphic features, longevity and disease risk...
November 13, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/29146190/newly-developed-selective-immunoinactivation-assay-revealed-reduction-in-adipose-triglyceride-lipase-activity-in-peripheral-leucocytes-from-patients-with-idiopathic-triglyceride-deposit-cardiomyovasculopathy
#13
Atsuko Takagi, Yasuyuki Ikeda, Kunihisa Kobayashi, Kazuhiro Kobayashi, Yoshihiko Ikeda, Junji Kozawa, Hideyuki Miyauchi, Ming Li, Chikako Hashimoto, Yasuhiro Hara, Satoshi Yamaguchi, Akira Suzuki, Tatsushi Toda, Hironori Nagasaka, Ken-Ichi Hirano
Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare and newly identified disease among patients requiring cardiac transplantation. TGCV is characterized by cardiomyocyte steatosis and triglyceride (TG)-deposit atherosclerosis, resulting from the abnormal intracellular metabolism of TG. TGCV is classified into primary and idiopathic types. Primary TGCV carries ultra-rare genetic mutations in the adipose triglyceride lipase (ATGL), a rate-liming enzyme that hydrolyzes intracellular TG in adipose and non-adipose tissues...
November 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29145754/cortical-and-subcortical-brain-morphometry-differences-between-patients-with-autism-spectrum-disorder-and-healthy-individuals-across-the-lifespan-results-from-the-enigma-asd-working-group
#14
Daan van Rooij, Evdokia Anagnostou, Celso Arango, Guillaume Auzias, Marlene Behrmann, Geraldo F Busatto, Sara Calderoni, Eileen Daly, Christine Deruelle, Adriana Di Martino, Ilan Dinstein, Fabio Luis Souza Duran, Sarah Durston, Christine Ecker, Damien Fair, Jennifer Fedor, Jackie Fitzgerald, Christine M Freitag, Louise Gallagher, Ilaria Gori, Shlomi Haar, Liesbeth Hoekstra, Neda Jahanshad, Maria Jalbrzikowski, Joost Janssen, Jason Lerch, Beatriz Luna, Mauricio Moller Martinho, Jane McGrath, Filippo Muratori, Clodagh M Murphy, Declan G M Murphy, Kirsten O'Hearn, Bob Oranje, Mara Parellada, Alessandra Retico, Pedro Rossa, Katya Rubia, Devon Shook, Margot Taylor, Paul M Thompson, Michela Tosetti, Gregory L Wallace, Fengfeng Zhou, Jan K Buitelaar
OBJECTIVE: Neuroimaging studies show structural differences in both cortical and subcortical brain regions in children and adults with autism spectrum disorder (ASD) compared with healthy subjects. Findings are inconsistent, however, and it is unclear how differences develop across the lifespan. The authors investigated brain morphometry differences between individuals with ASD and healthy subjects, cross-sectionally across the lifespan, in a large multinational sample from the Enhancing Neuroimaging Genetics Through Meta-Analysis (ENIGMA) ASD working group...
November 17, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29145638/consequences-of-calorie-restriction-and-calorie-excess-for-the-physiological-parameters-of-the-yeast-saccharomyces-cerevisiae-cells
#15
Roman Maslanka, Magdalena Kwolek-Mirek, Renata Zadrag-Tecza
Glucose plays an important role in cell metabolism and has an impact on cellular physiology. Changes in glucose availability may strongly influence growth rate of the cell size, cell metabolism and the rate of generation of cellular by-products, such as reactive oxygen species. The positive effect of low glucose concentration conditions-calorie restriction is observed in a wide range of species, including the Saccharomyces cerevisiae yeast, yet little is known about the effect of high glucose concentrations-calorie excess...
November 14, 2017: FEMS Yeast Research
https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#16
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29145578/the-changing-paradigm-of-management-of-liver-abscesses-in-chronic-granulomatous-disease
#17
David M Straughan, Kaitlin C McLoughlin, John E Mullinax, Beatriz E Marciano, Alexandra F Freeman, Victoria L Anderson, Gulbu Uzel, Sa D C Azoury, Rebecca Sorber, Humair S Quadri, Harry L Malech, Suk See DeRavin, Natasha Kamal, Christopher Koh, Christa S Zerbe, Douglas B Kuhns, John I Gallin, Theo Heller, Steven M Holland, Udo Rudloff
Background: Chronic granulomatous disease (CGD) is a rare genetic disorder causing recurrent infections. Over one quarter of patients develop hepatic abscesses and liver dysfunction. Recent reports suggest disease-modifying treatment with corticosteroids is effective for these abscesses. Comparison of corticosteroid therapy to traditional invasive treatments has not been performed. Methods: Records of 268 patients with CGD treated at the National Institutes of Health (NIH) from 1980 to 2014 were reviewed...
November 14, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29145541/variations-in-adipor1-but-not-adipor2-are-associated-with-hypertriglyceridemia-and-diabetes-in-an-admixed-latin-american-population
#18
Gustavo Gustavo Mora-García, María S Ruiz-Díaz, Fabian Espitia-Almeida, Doris Gómez-Camargo
BACKGROUND: Adiponectin is a hormone secreted by adipose tissue. It regulates glycolysis and lipolysis and is involved in the pathophysiology of diabetes and related disorders. Its activity is mainly mediated by the transmembrane receptors AdipoR1 and AdipoR2, which are encoded by ADIPOR1 (1q32.1) and ADIPOR2 (12p13.33) genes, respectively. In genetic association studies, single nucleotide polymorphisms (SNPs) in or near these genes have been associated with metabolic alterations. However, these relationships are still controversial...
July 2017: Review of Diabetic Studies: RDS
https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#19
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29145487/defining-external-factors-that-determine-neuronal-survival-apoptosis-and-necrosis-during-excitotoxic-injury-using-a-high-content-screening-imaging-platform
#20
Ujval Anilkumar, Petronela Weisova, Jasmin Schmid, Tytus Bernas, Heinrich J Huber, Heiko Düssmann, Niamh M C Connolly, Jochen H M Prehn
Cell death induced by excessive glutamate receptor overactivation, excitotoxicity, has been implicated in several acute and chronic neurological disorders. While numerous studies have demonstrated the contribution of biochemically and genetically activated cell death pathways in excitotoxic injury, the factors mediating passive, excitotoxic necrosis are less thoroughly investigated. To address this question, we developed a high content screening (HCS) based assay to collect high volumes of quantitative cellular imaging data and elucidated the effects of intrinsic and external factors on excitotoxic necrosis and apoptosis...
2017: PloS One
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