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https://www.readbyqxmd.com/read/29656518/genotype-specific-progression-of-hereditary-medullary-thyroid-cancer
#1
Andreas Machens, Kerstin Lorenz, Frank Weber, Henning Dralle
Although already 25 years into the genomic era, age-related progression of hereditary medullary thyroid cancer (MTC), the prevalence of which is estimated at 1 in 80,000 inhabitants, remains to be delineated for most unique RET (REarranged during Transfection) mutations. Included in this study were 567 RET carriers. The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p...
April 14, 2018: Human Mutation
https://www.readbyqxmd.com/read/29656491/recurrent-f8-and-f9-gene-variants-result-from-a-founder-effect-in-two-large-french-haemophilia-cohorts
#2
F Lassalle, O Marmontel, C Zawadzki, M Fretigny, P Bouvagnet, C Vinciguerra
INTRODUCTION: Haemophilia A (HA) and haemophilia B (HB) are X-linked recessive diseases, caused by a large number of pathogenic variants in the F8 and F9 genes. With the exception of introns 22 and 1 inversions which are frequent in severe HA cases, about 2000 unique variants in F8 and 1000 in F9 have been described in databases and their recurrence remains limited. AIM AND METHODS: During routine analysis, we identified two recurrent missense variants, the F8 gene c...
April 14, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29656431/stishovite-s-relative-a-post-coesite-form-of-phosphorus-oxonitride
#3
Sebastian Vogel, Dominik Baumann, Robin Niklaus, Elena Bykova, Maxim Bykov, Natalia Dubrovinskaia, Leonid Dubrovinsky, Wolfgang Schnick
Phosphorus oxonitride PON is isoelectronic with SiO2 and may exhibit a similar broad spectrum of intriguing properties as silica. However, PON has only been sparsely investigated at high-pressure conditions and there has been no evidence on a PON polymorph with an increased coordination number of P (CN > 4). Herein, we report on a post-coesite (pc) PON polymorph exhibiting a stishovite-related structure with P in a (5+1) coordination. The pc-PON was synthesized using the multianvil technique and characterized by powder X-ray diffraction, solid-state NMR, TEM measurements and in situ synchrotron X-ray diffraction in diamond anvil cells...
April 14, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29656314/-174-g-c-il-6-polymorphism-and-primary-iron-overload-in-male-patients
#4
Walter F Tetzlaff, Tomás Meroño, Eliana E Botta, Maximiliano E Martín, Patricia B Sorroche, Laura E Boero, Marcelo Castro, Gustavo D Frechtel, Jorge Rey, Jorge Daruich, Gloria E Cerrone, Fernando Brites
Primary iron overload (IO) is commonly associated with mutations in the hereditary hemochromatosis gene (HFE). Nonetheless, other genetic variants may influence the development of IO beyond HFE mutations. There is a single nucleotide polymorphism (SNP) at - 174 G>C of the interleukin (IL)-6 gene which might be associated with primary IO. Our aim was to study the association between the SNP - 174 G>C gene promoter of IL-6 and primary IO in middle-aged male patients. We studied 37 men with primary IO diagnosed by liver histology...
April 14, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29656282/intrapopulation-chromosomal-polymorphism-in-mazama-gouazoubira-cetartiodactyla-cervidae-the-emergence-of-a-new-species
#5
Mirela P Valeri, Iara M Tomazella, José M B Duarte
Mazama gouazoubira is a small deer species widely distributed in South America. Previous studies have shown that this species presents intraspecific chromosomal polymorphisms, which could affect fertility due to the effects of chromosomal rearrangements on gamete formation. Important aspects regarding the karyotype evolution of this species and the genus remain undefined due to the lack of information concerning the causes of this chromosomal variation. Nineteen individuals belonging to the Mazama gouazoubira population located in the Pantanal were cytogenetically evaluated...
April 14, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29656105/mitochondrial-introgression-obscures-phylogenetic-relationships-among-manakins-of-the-genus-lepidothrix-aves-pipridae
#6
Cleyssian Dias, Keila de Araújo Lima, Juliana Araripe, Alexandre Aleixo, Marcelo Vallinoto, Iracilda Sampaio, Horacio Schneider, Péricles Sena do Rêgo
Lepidothrix is the most diverse genus of the family Pipridae, with eight recognized species. Although the genus' monophyly has been supported by both molecular and morphological characters, phylogenetic relationships and species limits within Lepidothrix remain uncertain. In the present study, we combined molecular sequences of mitochondrial (ND2 and COI) and nuclear (MYO, G3PDh and I5BF) markers in a multilocus analysis, to evaluate relationships and inter-specific limits among L. iris, L. nattereri, and L...
April 12, 2018: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/29656101/diurnal-and-developmental-differences-in-gene-expression-between-adult-dispersing-and-flightless-morphs-of-the-wing-polymorphic-cricket-gryllus-firmus-implications-for-life-history-evolution
#7
Anthony J Zera, Neetha Nanoth Vellichirammal, Jennifer A Brisson
The functional basis of life history adaptation is a key topic of research in life history evolution. Studies of wing-polymorphism in the cricket Gryllus firmus have played a prominent role in this field. However, prior in-depth investigations of morph specialization have primarily focused on a single hormone, juvenile hormone, and a single aspect of intermediary metabolism, the fatty-acid biosynthetic component of lipid metabolism. Moreover, the role of diurnal variation in life history adaptation in G. firmus has been understudied, as is the case for organisms in general...
April 12, 2018: Journal of Insect Physiology
https://www.readbyqxmd.com/read/29655960/systemic-redox-biomarkers-and-their-relationship-to-prognostic-risk-markers-in-autosomal-dominant-polycystic-kidney-disease-and-iga-nephropathy
#8
Ambreen Tariq, Mohammad A Mansoor, Hans-Peter Marti, Grete Jonsson, Audun Slettan, Pabasara Weeraman, Terje Apeland
BACKGROUND: Oxidative stress is evident from an early stage in chronic kidney disease (CKD). Therefore, we investigated redox biomarkers in polycystic kidney disease (ADPKD) and IgA nephropathy (IGAN). METHODS: This is a case-control study with three groups: ADPKD (n = 54), IGAN (n = 58) and healthy controls (n = 86). The major plasma aminothiols with their redox species were examined: homocysteine (Hcy), cysteinglycine (CG), cysteine (Cys) and glutathione (GSH)...
April 12, 2018: Clinical Biochemistry
https://www.readbyqxmd.com/read/29655894/hhipl-1-rs2895811-gene-polymorphism-is-associated-with-cardiovascular-risk-factors-and-cardiometabolic-parameters-in-mexicans-patients-with-myocardial-infarction
#9
José Manuel Rodríguez-Pérez, Rosalinda Posadas-Sánchez, Ruben Blachman-Braun, Gilberto Vargas-Alarcón, Carlos Posadas-Romero, Adrián Asael Rodríguez-Cortés, Fabiola López-Bautista, Carlos Alfonso Tovilla-Zárate, Emma Xochitl Rojas-Toledo, Verónica Marusa Borgonio-Cuadra, Nonanzit Pérez-Hernández
Several studies have reported the role of hedgehog interacting protein-like 1 (HHIPL-1) in different pathologies, including cardiovascular disease. The aim of the present study was to analyze the association of HHIPL-1 (rs2895811) polymorphism with myocardial infarction (MI), cardiometabolic parameters, and traditional cardiovascular risk factors in the Mexican population. The polymorphism was genotyped using a TaqMan assay in 1023 patients with MI and 1105 controls. A similar distribution of the polymorphism was observed between studied groups...
April 12, 2018: Gene
https://www.readbyqxmd.com/read/29655343/using-reweighting-and-free-energy-surface-interpolation-to-predict-solid-solid-phase-diagrams
#10
Natalie P Schieber, Eric C Dybeck, Michael R Shirts
Many physical properties of small organic molecules are dependent on the current crystal packing, or polymorph, of the material, including bioavailability of pharmaceuticals, optical properties of dyes, and charge transport properties of semiconductors. Predicting the most stable crystalline form at a given temperature and pressure requires determining the crystalline form with the lowest relative Gibbs free energy. Effective computational prediction of the most stable polymorph could save significant time and effort in the design of novel molecular crystalline solids or predict their behavior under new conditions...
April 14, 2018: Journal of Chemical Physics
https://www.readbyqxmd.com/read/29653292/the-study-on-polymorphisms-of-sep15-and-trxr2-and-the-expression-of-ap-1-signaling-pathway-in-kashin-beck-disease
#11
RuiPeng Wu, RongQiang Zhang, YongMin Xiong, WenYan Sun, YuanYuan Li, XiaoLi Yang, JiFeng Liu, Yong Jiang, Hao Guo, XiaoYan Mo, JunLing Cao
The aim of the study was to investigate the association between rs5859 in Sep15, rs1139793 in TrxR2 polymorphisms with the risks of KBD and to detect the expression of AP-1 pathway in KBD subjects and in vitro. 208 KBD and 206 control subjects were included. PCR-Restriction Fragment Length Polymorphism (RFLP), Amplification Refractory Mutation Specific-PCR (ARMS-PCR) and Western Blotting were conducted. The results showed the minor A-allele frequency of rs5859 in KBD was statistically significantly higher than that in the control group (P < 0...
April 10, 2018: Bone
https://www.readbyqxmd.com/read/29653227/rsrc1-and-cpz-gene-polymorphisms-with-neuroblastoma-susceptibility-in-chinese-children
#12
Jue Tang, Wei Liu, Jinhong Zhu, Jiao Zhang, Feng-Hua Wang, Jiang-Hua Liang, Jia-Hang Zeng, Hui Wang, Huimin Xia, Jing He
Two new neuroblastoma susceptibility loci at 3q25 (RSRC1 rs6441201 G > A) and 4p16 (CPZ rs3796725 T > C and rs3796727 A > G) were identified by a genome-wide association study (GWAS) involving Italians, African Americans and European Americans. In this case-control study with 393 neuroblastoma cases and 812 controls, we investigated the association between these three polymorphisms and neuroblastoma susceptibility in Chinese population. We found that participants harboring the RSRC1 rs6441201A allele were associated with an increased risk of neuroblastoma (AA vs...
April 10, 2018: Gene
https://www.readbyqxmd.com/read/29653183/atropa-belladonna-neurotoxicity-implications-to-neurological-disorders
#13
REVIEW
Gunnar F Kwakye, Jennifer Jiménez, Jessica A Jiménez, Michael Aschner
Atropa belladonna, commonly known as belladonna or deadly nightshade, ranks among one of the most poisonous plants in Europe and other parts of the world. The plant contains tropane alkaloids, including atropine, scopolamine, and hyoscyamine, which are used as anticholinergics in Food and Drug Administration (FDA) approved drugs and homeopathic remedies. These alkaloids can be very toxic at high dose. The FDA has recently reported that Hyland's baby teething tablets contain inconsistent amounts of Atropa belladonna that may have adverse effects on the nervous system and cause death in children, thus recalled the product in 2017...
April 10, 2018: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29653174/molecular-detection-of-anaplasma-phagocytophilum-like-anaplasma-spp-and-pathogenic-a-phagocytophilum-in-cattle-from-south-korea
#14
Min-Goo Seo, In-Ohk Ouh, Oh-Deog Kwon, Dongmi Kwak
Anaplasma phagocytophilum is the causative agent of human granulocytic anaplasmosis and tick-borne fever in domestic ruminants. Differential diagnosis of zoonotic and pathogenic tick-borne diseases like granulocytic anaplasmosis is important for the efficient implementation of control programs. Thus, the differentiation of pathogenic A. phagocytophilum from non-pathogenic A. phagocytophilum-like (APL) Anaplasma spp. is essential. Recent molecular analyses of APL revealed its distinct phylogenetic position from A...
April 10, 2018: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/29653063/functional-evaluation-of-znf350-missense-genetic-variants-associated-with-breast-cancer-susceptibility
#15
Nasha Zhang, Youhua Lu, Xijun Liu, Dianke Yu, Zheng Lv, Ming Yang
ZNF350, a BRCA1-interacting protein, could mediate BRCA1-induced sequence-specific transcriptional repression of several genes, including GADD45α. As a potential breast cancer susceptibility gene, single nucleotide polymorphisms (SNPs), especially missense SNPs, may influence the transcriptional repression of its target tumor suppressor genes and individuals' breast cancer risk. Using the gene-based haplotype-tagging SNPs strategy, we evaluated the association between six ZNF350 polymorphisms and breast cancer risk in a case-control set from a northern Chinese population...
April 13, 2018: DNA and Cell Biology
https://www.readbyqxmd.com/read/29653052/resolving-the-chemically-discrete-structure-of-synthetic-borophene-polymorphs
#16
Gavin P Campbell, Andrew Jacob Mannix, Jonathan D Emery, Tien-Lin Lee, Nathan P Guisinger, Mark C Hersam, Michael J Bedzyk
Atomically thin two-dimensional (2D) materials exhibit superlative properties dictated by their intralayer atomic structure, which is typically derived from a limited number of thermodynamically stable bulk layered crystals (e.g., graphene from graphite). The growth of entirely synthetic 2D crystals - those with no corresponding bulk allotrope - would circumvent this dependence upon bulk thermodynamics and substantially expand the phase space available for structure-property engineering of 2D materials. However, it remains unclear if synthetic 2D materials can exist as structurally and chemically distinct layers anchored by van der Waals (vdW) forces, as opposed to strongly bound adlayers...
April 13, 2018: Nano Letters
https://www.readbyqxmd.com/read/29653009/-cytogenetic-and-molecular-genetic-analysis-of-the-amniotic-fluid-cells-of-a-fetus-with-pseudodicentric-isochromosome-22-resulting-in-partial-tetraploidy-of-22q
#17
Yanyan Shen, Hui Kong, Huan Zeng, Qiong Wu, Jiayan Chen, Dongxing Zhou, Jian Zhang, Yunsheng Ge, Feng Ding
OBJECTIVE: To diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice. METHODS: Conventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid. RESULTS: The karyotype of the amniocytes was 47, XX, +mar...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652999/-application-of-single-nucleotide-polymorphism-microarray-and-fluorescence-in-situ-hybridization-analysis-for-the-prenatal-diagnosis-of-a-case-with-pallister-killian-syndrome
#18
Wenling Zhang, Zhichao Guo, Weiwei Wang, Yonghui Sun, Chenxi Zhang, Xiaofei Wang, Liwen Zhang, Chengbin Wang
OBJECTIVE: To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS). METHODS: Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes. RESULTS: G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652996/-association-of-programmed-cell-death-1-pdcd1-gene-polymorphisms-with-colorectal-cancer-among-han-chinese-population
#19
Yuancun Zhao, Zhigang Mao, Hua Pang, Xiaohong Zhao, Shu Zhang, Zehua Gao, Yiwen Yang, Ting Fang, Qizhao Ma, Xiaodan Ma, Yufang Wang, Ji Zhang
OBJECTIVE: To assess the association of programmed cell death 1 (PDCD1) gene polymorphisms with the susceptibility and/or progression of colorectal cancer. METHODS: A hospital-based case-control study was carried out, which recruited 426 colorectal cancer patients and 500 healthy individuals. Five single nucleotide polymorphisms, namely rs36084323, rs11568821, rs2227981, rs2227982 and rs10204525, were selected for the study and genotyped with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652995/-association-of-polymorphisms-of-nape-pld-and-faah-genes-with-schizophrenia-in-chinese-han-population
#20
Peiru Si, Shulian Liu, Dongxiao Tong, Meijin Cheng, Liwen Wang, Xiaoli Cheng
OBJECTIVE: To assess the association of polymorphisms of N-acyl-phosphatidylethanolamine-phospholipase D (DAPE-PLD) and fatty acid amide hydrolase (FAAH) genes, as well as their interaction, with schizophrenia. METHODS: Polymorphisms of NAPE-PLD rs12540583 and FAAH rs324420, rs2295633, and rs6429600 were determined with PCR - restriction fragment length polymorphism assay and Sanger sequencing. The genotypes of 345 subjects of Han Chinese origin diagnosed with schizophrenia and a 403 controls were compared...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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