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Christian Rellstab, Stefan Zoller, Lorenz Walthert, Isabelle Lesur, Andrea R Pluess, René Graf, Catherine Bodénès, Christoph Sperisen, Antoine Kremer, Felix Gugerli
Testing how populations are locally adapted and predicting their response to their future environment is of key importance in view of climate change. Landscape genomics is a powerful approach to investigate genes and environmental factors involved in local adaptation. In a pooled amplicon sequencing approach of 94 genes in 71 populations, we tested if >3'500 single nucleotide polymorphisms (SNPs) in the three most common oak species in Switzerland (Quercus petraea, Q. pubescens, Q. robur) show an association with abiotic factors related to local topography, historical climate, and soil characteristics...
October 19, 2016: Molecular Ecology
Huiping Zhang, Joel Gelernter
BACKGROUND AND OBJECTIVES: Risk for alcohol use disorders (AUDs) is influenced by gene-environment interactions. Environmental factors can affect gene expression through epigenetic mechanisms such as DNA methylation. This review outlines the findings regarding the association of DNA methylation and AUDs. METHODS: We searched PubMed (by April 2016) and identified 29 studies that examined the association of DNA methylation and AUDs. We also evaluated the methods used in these studies...
October 19, 2016: American Journal on Addictions
Susan E Luczak, Rubin Khoddam, Sheila Yu, Tamara L Wall, Anna Schwartz, Steve Sussman
BACKGROUND AND OBJECTIVES: We conducted a review of the prevalence and co-occurrence of 12 types of addictions in US ethnic/racial groups and discuss the implications of the results for genetic research on addictions. METHODS: We utilized MEDLINE and PsycINFO databases to review the literature on alcohol, tobacco, marijuana, illicit drugs, gambling, eating/food, internet, sex, love, exercise, work, and shopping. We present results for each addiction based on total US prevalence, prevalence within ethnic groups, and co-occurrence of addictions among ethnic groups when available...
October 19, 2016: American Journal on Addictions
Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Achiya Zvi Amir, Gadi Horev, Joanne Yacobovich, Michael Bennett, Hannah Tamary
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies...
October 19, 2016: American Journal of Medical Genetics. Part A
Jolanta Skalska-Sadowska, Małgorzata Dawidowska, Bronisława Szarzyńska-Zawadzka, Małgorzata Jarmuż-Szymczak, Joanna Czerwińska-Rybak, Ludomiła Machowska, Katarzyna Derwich
We report a pediatric case of acute T-lymphoblastic leukemia (T-ALL) with NOTCH1(wt) , FBXW7(wt) , STIL/TAL1, and PTEN (exons 2, 3, 4, 5) monoallelic deletions, biallelic CDKN2A/B deletion, and a minor t(8;14)(q24;q11)-positive subclone. Undetectable by a flow cytometric minimal residual disease assay, the t(8;14)(q24;q11) subclone expanded as detected by fluorescence in situ hybridization from 5% at diagnosis to 26% before consolidation and 100% at relapse bearing a monoallelic deletion (exons 2, 3) with a new frameshift mutation of PTEN and the same set of remaining molecular alterations...
October 19, 2016: Pediatric Blood & Cancer
R Rebecca Love, Aaron M Steele, Mamadou B Coulibaly, Sékou F Traore, Scott J Emrich, Michael C Fontaine, Nora J Besansky
The molecular mechanisms and genetic architecture that facilitate adaptive radiation of lineages remain elusive. Polymorphic chromosomal inversions, due to their recombination-reducing effect, are proposed instruments of ecotypic differentiation. Here we study an ecologically diversifying lineage of An. gambiae, known as the Bamako chromosomal form based on its unique complement of three chromosomal inversions, to explore the impact of these inversions on ecotypic differentiation. We used pooled and individual genome sequencing of Bamako, typical (non-Bamako) An...
October 19, 2016: Molecular Ecology
Imene Dalichaouche, Yamina Sifi, Carinne Roudaut, Karima Sifi, Abdelmadjid Hamri, Leila Rouabah, Noureddine Abadi, Isabelle Richard
INTRODUCTION: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families that presented with early onset severe muscular dystrophy and a clinical phenotype resembling Limb-girdle muscular dystrophy type 2C (LGMD2C). METHODS: To define the genetic basis of the diseases in these families, we undertook a series of analysis of the γ-sarcoglycan (SGCG) and DMD genes. RESULTS: Fifteen families were shown to carry SGCG variants...
October 19, 2016: Muscle & Nerve
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Flávio Moura Rezende, Acary Souza Bulle Oliveira
Motor neuron disease is one of the major groups of neurodegenerative diseases, mainly represented by amyotrophic lateral sclerosis. Despite wide genetic and biochemical data regarding its pathophysiological mechanisms, motor neuron disease develops under a complex network of mechanisms not restricted to the unique functions of the alpha motor neurons but which actually involve diverse functions of glial cell interaction. This review aims to expose some of the leading roles of glial cells in the physiological mechanisms of neuron-glial cell interactions and the mechanisms related to motor neuron survival linked to glial cell functions...
October 2016: Arquivos de Neuro-psiquiatria
Evan J Kipp, Jacqueline Mariscal, Rodrigo X Armijos, Margaret Weigel, Kenneth Waldrup
We detected Leishmania mexicana in skin biopsies taken from a stray canine (Canis familiaris) and Texas mouse (Peromyscus attwateri) at two ecologically disparate sites in west and central Texas using polymerase chain reaction (PCR). A single PCR-positive dog was identified from a sample of 96 stray canines and was collected in a peri-urban area in El Paso County, Texas. The PCR-positive P. attwateri was trapped at a wildlife reserve in Mason County, Texas, from a convenience sample of 20 sylvatic mammals of different species...
October 2016: Memórias do Instituto Oswaldo Cruz
Hanseol Kim, Jihye Ryu, Chaeyoung Lee
A genome-wide association study was conducted to identify expression quantitative trait loci (eQTL) for human telomerase.We tested the genetic associations of nucleotide variants with expression of the genes encoding human telomerase reverse transcriptase (hTERT) and telomerase RNA components (TERC) in lymphoblastoid cell lines derived from 373 Europeans.Our results revealed 6 eQTLs associated with hTERT (P < 5 × 10). One eQTL (rs17755753) was located in the intron 1 of the gene encoding R-spondin-3 (RSPO3), a well-known Wnt signaling regulator...
October 2016: Medicine (Baltimore)
Wen Huang, Richard F Lyman, Rachel A Lyman, Mary Anna Carbone, Susan T Harbison, Michael M Magwire, Trudy Fc Mackay
No abstract text is available yet for this article.
October 19, 2016: ELife
Nese Karadag, Kerem Tolan, Emine Samdanci, Ayse Selimoglu, Nusret Akpolat, Sezai Yilmaz
OBJECTIVES: Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges. In this study, we evaluated the histopathologic findings of explanted livers in Wilson disease, with special emphasis on copper histochemistry. MATERIALS AND METHODS: Our study group was recruited by reviewing archived histopathology reports and the liver transplant clinic patient records retrospectively for patients who had liver transplant for Wilson disease between January 2010 and June 2015, at Turgut Ozal Medical Center...
October 14, 2016: Experimental and Clinical Transplantation
M Ariel Geer Wallace, Tzipporah M Kormos, Joachim D Pleil
Environmental health science aims to link environmental pollution sources to adverse health outcomes to develop effective exposure intervention strategies that reduce long-term disease risks. Over the past few decades, the public health community recognized that health risk is driven by interaction between the human genome and external environment. Now that the human genetic code has been sequenced, establishing this "G × E" (gene-environment) interaction requires a similar effort to decode the human exposome, which is the accumulation of an individual's environmental exposures and metabolic responses throughout the person's lifetime...
October 19, 2016: Journal of Toxicology and Environmental Health. Part B, Critical Reviews
Rebba C Boswell-Casteel, Franklin A Hays
Equilibrative nucleoside transporters (ENTs) are polytopic integral membrane proteins that mediate the transport of nucleosides, nucleobases, and therapeutic analogs. The best-characterized ENTs are the human transporters hENT1 and hENT2. However, non-mammalian eukaryotic ENTs have also been studied (e.g., yeast, parasitic protozoa). ENTs are major pharmaceutical targets responsible for modulating the efficacy of more than 30 approved drugs. However, the molecular mechanisms and chemical determinants of ENT-mediated substrate recognition, binding, inhibition, and transport are poorly understood...
October 19, 2016: Nucleosides, Nucleotides & Nucleic Acids
Boris A Levin, Evgeniy Simonov, Michael P Matveyev, Oleg N Artaev, Namig J Mustafayev, Andrey N Pashkov, Haikaz R Roubenyan
Spirlins of the genus Alburnoides are widespread fishes, which taxonomy has been rapidly developing in recent years. Mitochondrial cytochrome c oxidase subunit I (COI) was used as DNA barcode marker to create a reference dataset of Caucasian Alburnoides and to test its barcoding efficiency. All four previously known Caucasian species of Alburnoides were confirmed as valid species with high genetic distances to sister species as well confirmed as Caucasian endemics. Alburnoides samiii, previously known from Sefidroud basin (Iran), was discovered in Transcaucasia...
October 19, 2016: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
R Askerov
High incidence of missed abortion induces to search for its causes. Apart from genetic and anatomic uterine factors, the state of the decidual endometrium and implantation zone of chorionic structures of the gestational sac are of particular interest. Direct visualization of the intact decidual endometrium is possible with embryoscopy, however, there is lack of presented data of normal and pathological signs of the endometrium during pregnancy. This paper describes the changes of the endometrium in missed abortion obtained by hysteroscopy in 160 women with nonprogressive pregnancy after ART protocols...
October 2016: Gynecological Endocrinology
I G Shestakova, V E Radzinsky, M B Khamoshina
Premature ovarian insufficiency (POI) is a life-changing diagnosis, with profound physical and psychological consequences. Despite the description of different genetic, immune and iatrogenic factors of POI, the etiology of most cases of this disease are unexplained, and optimal management strategies are still unclear. Recent data showed that POI may have a long period of oligomenorrhea before the fully developed form (complete ovarian failure stage), with the occurrence of amenorrhea and climacteric symptoms...
October 2016: Gynecological Endocrinology
N M Mamedaliyeva, S Sh Issenova, V N Lokshin
A molecular genetic study of DNA in 98 pregnant women with mycoplasma infection and 100 healthy pregnant women was carried out. The results of the study revealed that the presence of the homozygous mutant genotype AA increases the risk of pro-inflammatory processes in the body by 6.7 times, and the carriage of GA genotypic variants increases the risk of its occurrence by 2.6 times.
October 2016: Gynecological Endocrinology
O A Melkozerova, N V Bashmakova, E V Volkova, T B Tretyakova, P B Tsyvian
The objective of the study is to assess NOS3 and ESR1 gene polymorphism in adolescent girls born with low birth weight (LBW) and suffered by anomalous uterine bleeding (AUB). A total 95 adolescent girls were studied including 32 born with LBW and AUB; 36 girls with normal birth weight and AUB; and 27 healthy girls. Single allele gene polymorphism NOS3 786T > C, 894G > T, ESR1 351A > G and 397T > C was studied. The existence of polymorphous allele С gene NOS3 786Т > С (for homozygote OR = 2...
October 2016: Gynecological Endocrinology
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