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Anissa Moktefi, Shao-Yu Zhang, Pauline Vachin, Virginie Ory, Carole Henique, Vincent Audard, Catherine Rucker-Martin, Elodie Gouadon, Michael Eccles, Andreas Schedl, Laurence Heidet, Mario Ollero, Djillali Sahali, Andre Pawlak
The WT1 (Wilm's tumor suppressor) gene is expressed throughout life in podocytes and is essential for the functional integrity of the glomerular filtration barrier. We have previously shown that CMIP (C-Maf inducing protein) is overproduced in podocyte diseases and alters intracellular signaling. Here we isolated the proximal region of the human CMIP promoter and showed by chromatin immunoprecipitation assays and electrophoretic-mobility shift that Wilm's tumor protein (WT1) bound to 2 WT1 response elements, located at positions -290/-274 and -57/-41 relative to transcription start site...
September 17, 2016: Kidney International
Rona J Strawbridge, Helmut Laumen, Anders Hamsten, Michaela Breier, Harald Grallert, Hans Hauner, Peter Arner, Ingrid Dahlman
OBJECTIVES: Numerous genetic loci have been associated with measures of central fat accumulation, such as waist-to-hip ratio adjusted for body mass index (WHRadjBMI). However the mechanisms by which genetic variations influence obesity remain largely elusive. Lipolysis is a key process for regulation of lipid storage in adipocytes, thus is implicated in obesity and its metabolic complications. Here, genetic variants at 36 WHRadjBMI-associated loci were examined for their influence on abdominal subcutaneous adipocyte lipolysis...
2016: PloS One
Toshio Kitamura, Naoko Watanabe-Okochi, Yutaka Enomoto, Fumio Nakahara, Toshihiko Oki, Yukiko Komeno, Naoko Kato, Noriko Doki, Tomoyuki Uchida, Yuki Kagiyama, Katsuhiro Togami, Kimihito C Kawabata, Koutarou Nishimura, Yasutaka Hayashi, Reina Nagase, Makoto Saika, Tsuyoshi Fukushima, Shuhei Asada, Takeshi Fujino, Yuto Izawa, Sayuri Horikawa, Tomofusa Fukuyama, Yosuke Tanaka, Ryoichi Ono, Susumu Goyama, Tetsuya Nosaka, Jiro Kitaura, Daichi Inoue
Recent progress in high-speed sequencing technology has revealed that tumors harbor novel mutations in a variety of genes including those for molecules involved in epigenetics and splicing, some of which were not categorized to previously thought malignancy-related genes. However, despite thorough identification of mutations in solid tumors and hematological malignancies, how these mutations induce cell transformation still remains elusive. In addition, each tumor usually contains multiple mutations or sometimes consists of multiple clones, which makes functional analysis difficult...
January 2016: Journal of Biochemistry
Qing Yang, Yalin Yin, Guojun Yu, Yanxia Jin, Xiangdong Ye, Alok Shrestha, Wei Liu, Wenhui Yu, Hui Sun
Cordyceps militaris is a famous fungus used in traditional Chinese medicine for nearly one thousand years. And its fruiting body is known to possess anticancer and immunomodulatory activities. This study describes the isolation, characterization, and test of antitumor activity of a C. militaris protein, called here as "C. militaris immunoregulatory protein" (CMIP). CMIP was purified through a three-step chromatographic procedure. The MS analyses showed that CMIP corresponded to an uncharacterized protein (CCM_01955) in the C...
September 2015: International Journal of Biological Macromolecules
I Fountoulakis, A F Bais
Simulations of the monthly mean noon UV index and the effective dose for the production of vitamin D in the human skin have been performed for local noon for the latitude band 55°N-85°N using a radiative transfer model. The magnitude and spatial distribution of the changes estimated for the two quantities between the past (1955-1965 mean), the present (2010-2020 mean) and the future (2085-2095 mean) are discussed and the main drivers for these changes are identified. The irradiance simulations are based on simulations and projections of total ozone, surface reflectivity and aerosol optical depth derived from models used in the fifth phase of the Coupled Model Intercomparison Project (CMIP-5)...
July 2015: Photochemical & Photobiological Sciences
John D Eicher, Jeffrey R Gruen
Language and communication development is a complex process influenced by numerous environmental and genetic factors. Many neurodevelopment disorders include deficits in language and communication skills in their diagnostic criteria, including autism spectrum disorders (ASD), language impairment (LI), and dyslexia. These disorders are polygenic and complex with a significant genetic component contributing to each. The similarity of language phenotypes and comorbidity of these disorders suggest that they may share genetic contributors...
April 2015: Autism Research: Official Journal of the International Society for Autism Research
Pedram Gerami, John P Alsobrook, Tara J Palmer, Howard S Robin
BACKGROUND: The accurate clinical assessment of melanocytic neoplasms is a challenge for clinicians. Currently, obtaining a biopsy specimen and conducting a histologic examination is the standard of care. The incidence of melanoma in white populations is high, resulting in a large number of biopsy specimens. OBJECTIVE: The objective of this study is to develop a noninvasive genomic method using mRNA to classify pigmented skin lesions as either benign or malignant...
August 2014: Journal of the American Academy of Dermatology
Masaki Kato, Kazuo Okanoya, Taku Koike, Erika Sasaki, Hideyuki Okano, Shigeru Watanabe, Atsushi Iriki
Language is a characteristic feature of human communication. Several familial language impairments have been identified, and candidate genes for language impairments already isolated. Studies comparing expression patterns of these genes in human brain are necessary to further understanding of these genes. However, it is difficult to examine gene expression in human brain. In this study, we used a non-human primate (common marmoset; Callithrix jacchus) as a biological model of the human brain to investigate expression patterns of human speech- and reading-related genes...
June 2014: Brain and Language
Ahmad Manbohi, Ehsan Shamaeli, Naader Alizadeh
The benzoate anion was selectively extracted by electrochemically controlled solid-phase microextraction (EC-SPME) using a electro-synthesised nanostructure conducting molecularly imprinted polypyrrole (CMIP) film that imprinted for benzoate ions (template ion). The sorbent behaviors of CMIP were characterised using spectrophotometry analysis. The effect of pH, uptake and released times and potentials, template ion concentration, and interference were investigated, and experimental conditions optimised. The film exhibited excellent selectivity in the presence of potential interference from anions including salicylate, sorbate, citrate, phosphate, acetate and chloride ions...
July 15, 2014: Food Chemistry
Vera Forsbach-Birk, Corinna Foddis, Ulrike Simnacher, Max Wilkat, David Longbottom, Gernot Walder, Christiane Benesch, Martin Ganter, Konrad Sachse, Andreas Essig
Enzootic abortion of ewes (EAE) due to infection with the obligate intracellular pathogen Chlamydia (C.) abortus is an important zoonosis leading to considerable economic loss to agriculture worldwide. The pathogen can be transmitted to humans and may lead to serious infection in pregnant women. Knowledge about epidemiology, clinical course and transmission to humans is hampered by the lack of reliable diagnostic tools. Immunoreactive proteins, which are expressed in infected animals and humans, may serve as novel candidates for diagnostic marker proteins and represent putative virulence factors...
2013: PloS One
Ying Wu, He Gao, Huaixing Li, Yasuharu Tabara, Masahiro Nakatochi, Yen-Feng Chiu, Eun Jung Park, Wanqing Wen, Linda S Adair, Judith B Borja, Qiuyin Cai, Yi-Cheng Chang, Peng Chen, Damien C Croteau-Chonka, Marie P Fogarty, Wei Gan, Chih-Tsueng He, Chao A Hsiung, Chii-Min Hwu, Sahoko Ichihara, Michiya Igase, Jaeseong Jo, Norihiro Kato, Ryuichi Kawamoto, Christophor W Kuzawa, Jeannette J M Lee, Jianjun Liu, Ling Lu, Thomas W McDade, Haruhiko Osawa, Wayne H-H Sheu, Yvonne Teo, Swarooparani Vadlamudi, Rob M Van Dam, Yiqin Wang, Yong-Bing Xiang, Ken Yamamoto, Xingwang Ye, Terri L Young, Wei Zheng, Jingwen Zhu, Xiao-Ou Shu, Chol Shin, Sun Ha Jee, Lee-Ming Chuang, Tetsuro Miki, Mitsuhiro Yokota, Xu Lin, Karen L Mohlke, E Shyong Tai
Blood levels of adiponectin, an adipocyte-secreted protein correlated with metabolic and cardiovascular risks, are highly heritable. Genome-wide association (GWA) studies for adiponectin levels have identified 14 loci harboring variants associated with blood levels of adiponectin. To identify novel adiponectin-associated loci, particularly those of importance in East Asians, we conducted a meta-analysis of GWA studies for adiponectin in 7827 individuals, followed by two stages of replications in 4298 and 5954 additional individuals...
February 15, 2014: Human Molecular Genetics
Kensuke Sakai, Minako Imamura, Yasushi Tanaka, Minoru Iwata, Hiroshi Hirose, Kohei Kaku, Hiroshi Maegawa, Hirotaka Watada, Kazuyuki Tobe, Atsunori Kashiwagi, Ryuzo Kawamori, Shiro Maeda
AIMS: East Asian genome-wide association studies (GWAS) for type 2 diabetes identified 8 loci with genome-wide significance, and 2 loci with a borderline association. However, the associations of these loci except MAEA locus with type 2 diabetes have not been evaluated in independent East Asian cohorts. We performed a replication study to investigate the association of these susceptibility loci with type 2 diabetes in an independent Japanese population. METHODS: We genotyped 7,379 Japanese participants (5,315 type 2 diabetes and 2,064 controls) for each of the 9 single nucleotide polymorphisms (SNPs), rs7041847 in GLIS3, rs6017317 in FITM2-R3HDML-HNF4A, rs6467136 near GCCI-PAX4, rs831571 near PSMD6, rs9470794 in ZFAND3, rs3786897 in PEPD, rs1535500 in KCNK16, rs16955379 in CMIP, and rs17797882 near WWOX...
2013: PloS One
Sarah A Graham, Simon E Fisher
Researchers are beginning to uncover the neurogenetic pathways that underlie our unparalleled capacity for spoken language. Initial clues come from identification of genetic risk factors implicated in developmental language disorders. The underlying genetic architecture is complex, involving a range of molecular mechanisms. For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment...
February 2013: Current Opinion in Neurobiology
Akram Ameli, Naader Alizadeh
A conducting molecularly imprinted polymer (CMIP) film, based on polypyrrole, was electrosynthesized for selective uptake/release and determination of naproxen. The film was prepared by incorporation of a template anion (naproxen) during the electropolymerization of pyrrole into a platinum electrode using the cyclic voltammetry method. Overoxidized polypyrrole films with cavities complementary to the template were used as a potential-induced selective recognition element in the solid-phase sorbent. Various important fabricating factors, which control the performance of the CMIP film, were investigated using fluorescence spectroscopy...
September 15, 2012: Analytical Biochemistry
Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, Sandra Kenis, Lina Dom, Geert Mortier, Liesbeth Rooms, R Frank Kooy
In a developmentally delayed girl with an autism spectrum disorder, Single nucleotide polymorphism (SNP) array analysis showed a de novo 280 kb deletion on chromosome 16q23.2 involving two genes, GAN and CMIP. Inactivating mutations in GAN cause the autosomal recessive disorder giant axonal neuropathy, not present in our patient. CMIP was recently implicated in the etiology of specific language impairment by genome-wide association analysis. It modulates phonological short-term memory and hence plays an important role in language acquisition...
August 2012: Autism Research: Official Journal of the International Society for Autism Research
Ning Li, Christopher W Bartlett
Language is a uniquely human trait, which poses limitations on animal models for discovering biological substrates and pathways. Despite this challenge, rapidly developing biotechnology in the field of genomics has made human genetics studies a viable alternative route for defining the molecular neuroscience of human language. This is accomplished by studying families that transmit both normal and disordered language across generations. The language disorder reviewed here is specific language impairment (SLI), a developmental deficiency in language acquisition despite adequate opportunity, normal intelligence, and without any apparent neurological etiology...
April 9, 2012: Life Sciences
Akram Ameli, Naader Alizadeh
Overoxidized polypyrrole (OPPy) films templated with salicylate (SA) have been utilized as conducting molecular imprinted polymers (CMIPs) for potential-induced selective solid-phase micro-extraction processes. Various important fabrication factors for controlling the performance of the OPPy films have been investigated using fluorescence spectrometry. Several key parameters such as applied potential for uptake, release, pH of uptake and release solution were varied to achieve the optimum micro-extraction procedure...
November 30, 2011: Analytica Chimica Acta
Giorgia Girotto, Nicola Pirastu, Rossella Sorice, Ginevra Biino, Harry Campbell, Adamo P d'Adamo, Nicholas D Hastie, Teresa Nutile, Ozren Polasek, Laura Portas, Igor Rudan, Sheila Ulivi, Tatijana Zemunik, Alan F Wright, Marina Ciullo, Caroline Hayward, Mario Pirastu, Paolo Gasparini
BACKGROUND: Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out within the International Consortium G-EAR. METHODS: Meta-analysis of genome-wide association study's data from six isolated populations of European ancestry for an overall number of 3417 individuals. RESULTS: Eight suggestive significant loci (p<10(-7)) were detected with a series of genes expressed within the inner ear such as: DCLK1, PTPRD, GRM8, CMIP...
June 2011: Journal of Medical Genetics
Tom S Scerri, Andrew P Morris, Lyn-Louise Buckingham, Dianne F Newbury, Laura L Miller, Anthony P Monaco, Dorothy V M Bishop, Silvia Paracchini
BACKGROUND: Several susceptibility genes have been proposed for dyslexia (reading disability; RD) and specific language impairment (SLI). RD and SLI show comorbidity, but it is unclear whether a common genetic component is shared. METHODS: We have investigated whether candidate genes for RD and SLI affect specific cognitive traits or have broad effect on cognition. We have analyzed common risk variants within RD (MRPL19/C2ORF3, KIAA0319, and DCDC2) and language impairment (CMIP and ATP2C2) candidate loci in the Avon Longitudinal Study of Parents and Children cohort (n = 3725), representing children born in southwest England in the early 1990s...
August 1, 2011: Biological Psychiatry
D F Newbury, S Paracchini, T S Scerri, L Winchester, L Addis, Alex J Richardson, J Walter, J F Stein, J B Talcott, A P Monaco
Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia...
January 2011: Behavior Genetics
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