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https://www.readbyqxmd.com/read/29101275/carasil-families-from-india-with-3-novel-null-mutations-in-the-htra1-gene
#1
Veeramani Preethish-Kumar, Hiroaki Nozaki, Sarbesh Tiwari, Seena Vengalil, Maya Bhat, Chandrajit Prasad, Osamu Onodera, Masahiro Uemura, Seshagiri Doniparthi, Jitender Saini, Saraswati Nashi, Kiran Polavarapu, Atchayaram Nalini
No abstract text is available yet for this article.
November 3, 2017: Neurology
https://www.readbyqxmd.com/read/29072404/knowledge-and-perceptions-of-common-breast-cancer-risk-factors-in-northern-saudi-arabia
#2
Ali Ghannam Alrashidi, Hussain Gadelkarim Ahmed, Kalaf Jaze Kalaf Alshammeri, Sami Awejan Alrashedi, Bassam Ahmed ALmutlaq, Fayez Nashi Motlaq Alshammari, Abdulaziz Abdulrahman Hamad Alshudayyid, Abdulrahman Ayed Jazza Alshammari, Fahad Mohammed Samran Anazi, Wasmiah Marzouq Alshammari, Hamdan Sulaiman Ayed Alshammari, Eid Fahad Habeeb Alshammari
Background: Breast cancer is the second leading cause of cancer death in women around the world. The degree of adoption of a preventive lifestyle offers valuable information for planning appropriate intervention programs for improving women’s health. The objective of the present study was to assess the levels of breast cancer related knowledge among a Northern Saudi population. Methodology: In this cross sectional study, data were obtained from 566 Saudi volunteers living in the city of Hail, the Kingdom of Saudi Arabia (KSA)...
October 26, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28938856/intrafamilial-phenotypic-variations-in-familial-cases-of-cervical-flexion-induced-myelopathy-hirayama-disease
#3
Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Seena Vengalil, Chandrajit Prasad, Kajari Bhattacharya, Abha Verma, Nupur Pruthi, Dhananjay I Bhat, Atchayaram Nalini
Hirayama disease is generally considered to be a sporadic disorder, except for a few reports of familial occurrence. In this study, we describe eight patients from four families with cervical flexion induced myelopathy (CFIM)/Hirayama disease (HD) and intra-familial phenotypic variations. All underwent clinical and electrophysiological evaluation, while seven of them had contrast MR imaging of cervical spine in flexion. There was significant intra-familial variability: distal bimelic form in four patients, classical monomelic form in three and proximo-distal form in one...
September 22, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28927828/fatty-acid-oxidation-defects-presenting-as-primary-myopathy-and-prominent-dropped-head-syndrome
#4
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Rita Christopher, Narayanappa Gayathri, Archana Natarajan, Mahadevappa Manjunath, Saraswati Nashi, Chandrajit Prasad, Atchayaram Nalini
Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here...
November 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28802167/induction-of-senescence-in-cancer-cells-by-5-aza-2-deoxycytidine-bioinformatics-and-experimental-insights-to-its-targets
#5
Jayarani F Putri, Nashi Widodo, Kazuichi Sakamoto, Sunil C Kaul, Renu Wadhwa
5'-Aza-2'-deoxycytidine (5-Aza-dC) is a demethylating drug that causes genome-wide hypomethylation resulting in the expression of several tumor suppressor genes causing growth arrest of cancer cells. Cancer is well established as a multifactorial disease and requires multi-module therapeutics. Search for new drugs and their approval by FDA takes a long time. Keeping this in view, research on new functions of FDA-approved anticancer drugs is desired to expand the list of multi-module functioning drugs for cancer therapy...
August 2, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28637711/the-exon-junction-complex-and-srp54-contribute-to-hedgehog-signaling-via-ci-rna-splicing-in-drosophila-melanogaster
#6
Elisa Garcia-Garcia, Jamie C Little, Daniel Kalderon
Hedgehog (Hh) regulates the Cubitus interruptus (Ci) transcription factor in Drosophila melanogaster by activating full-length Ci-155 and blocking processing to the Ci-75 repressor. However, the interplay between the regulation of Ci-155 levels and activity, as well as processing-independent mechanisms that affect Ci-155 levels, have not been explored extensively. Here, we identified Mago Nashi (Mago) and Y14 core Exon Junction Complex (EJC) proteins, as well as the Srp54 splicing factor, as modifiers of Hh pathway activity under sensitized conditions...
August 2017: Genetics
https://www.readbyqxmd.com/read/28566540/the-exon-junction-complex-senses-energetic-stress-and-regulates-contractility-and-cell-architecture-in-cardiac-myocytes
#7
Olivier A Pierrat, Anju Paudyal, James Woodruff, Olga Koroleva, Samuel Boateng
The Exon Junction Complex (EJC) is the main mechanism by which cells select specific mRNAs for translation into protein. We hypothesised that the EJC is involved in the regulation of gene expression during the stress response in cardiac myocytes, with implications for the failing heart. In cultured rat neonatal myocytes, we examined the cellular distribution of two EJC components eIF4A3 and mago nashi homologue (Mago) in response to metabolic stress. There was significant relocalisation of eIF4A3 and Mago from the nucleus to cytoplasm following 18 hours of hypoxia...
May 31, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28402567/nonsense-mediated-mrna-decay-in-tetrahymena-is-ejc-independent-and-requires-a-protozoa-specific-nuclease
#8
Miao Tian, Wentao Yang, Jing Zhang, Huai Dang, Xingyi Lu, Chengjie Fu, Wei Miao
Nonsense-mediated mRNA decay (NMD) is essential for removing premature termination codon-containing transcripts from cells. Studying the NMD pathway in model organisms can help to elucidate the NMD mechanism in humans and improve our understanding of how this biologically important process has evolved. Ciliates are among the earliest branching eukaryotes; their NMD mechanism is poorly understood and may be primordial. We demonstrate that highly conserved Upf proteins (Upf1a, Upf2 and Upf3) are involved in the NMD pathway of the ciliate, Tetrahymena thermophila...
June 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28399169/a-photoperiod-responsive-protein-compendium-and-conceptual-proteome-roadmap-outline-in-maize-grown-in-growth-chambers-with-controlled-conditions
#9
You-Zhi Li, Xian-Wei Fan, Qiang Chen, Hao Zhong
Maize (Zea mays L.) is one of the major staple food crops of the world. However, high photoperiod sensitivity, especially for tropical germplasms, impedes attempts to improve maize agronomical traits by integration of tropical and temperate maize germplasms. Physiological and phenotypic responses of maize to photoperiod have widely been investigated based on multi-site field observations; however, proteome-based responsive mechanisms under controlled photoperiod regimes, nutrient and moisture soils are not yet well understood...
2017: PloS One
https://www.readbyqxmd.com/read/28079318/duchenne-muscular-dystrophy-and-becker-muscular-dystrophy-confirmed-by-multiplex-ligation-dependent-probe-amplification-genotype-phenotype-correlation-in-a-large-cohort
#10
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Manjunath Mahadevappa, Deepha Sekar, Meera Purushottam, Priya Treesa Thomas, Saraswathi Nashi, Atchayaram Nalini
BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. METHODS: A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28012415/comparing-sleep-profiles-between-patients-with-juvenile-myoclonic-epilepsy-and-symptomatic-partial-epilepsy-sleep-questionnaire-based-study
#11
COMPARATIVE STUDY
Nashi Saraswati, Chetan Nayak, Sanjib Sinha, Madhu Nagappa, Kandavel Thennarasu, Arun B Taly
OBJECTIVES: Patients with epilepsy commonly report excessive daytime sleepiness and daytime fatigue, which may be attributed to the direct effect of seizures, a side effect of antiepileptic drugs or a combination of the two. The aim of the study was to compare sleep profiles in patients with juvenile myoclonic epilepsy (JME) and symptomatic partial epilepsy (PE) in drug naïve and treated patients using standardized sleep questionnaires. METHODS: Three study groups: - 1) juvenile myoclonic epilepsy (N=40) [drug naïve (N=20); On sodium valproate (SVA) (N=20)]; 2) symptomatic partial epilepsy (N=40) [drug naïve (N=20); On carbamazepine (CBZ) (N=20)]; 3) healthy controls (N=40) completed 3 standardized sleep questionnaires - Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, and NIMHANS Comprehensive Sleep Disorders Questionnaire...
January 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27942375/coping-with-potential-bi-parental-inbreeding-limited-pollen-and-seed-dispersal-and-large-genets-in-the-dioecious-marine-angiosperm-thalassia-testudinum
#12
Brigitta Ine Van Tussenbroek, Tania Valdivia-Carrillo, Irene Teresa Rodríguez-Virgen, Sylvia Nashieli Marisela Sanabria-Alcaraz, Karina Jiménez-Durán, Kor Jent Van Dijk, Guadalupe Judith Marquez-Guzmán
The high prevalence of dioecy in marine angiosperms or seagrasses (>50% of all species) is thought to enforce cross-fertilization. However, seagrasses are clonal plants, and they may still be subject to sibling-mating or bi-parental inbreeding if the genetic neighborhood is smaller than the size of the genets. We tested this by determining the genetic neighborhoods of the dioecious seagrass Thalassia testudinum at two sites (Back-Reef and Mid-Lagoon) in Puerto Morelos Reef Lagoon, Mexico, by measuring dispersal of pollen and seeds in situ, and by fine-scale spatial autocorrelation analysis with eight polymorphic microsatellite DNA markers...
August 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/27754029/yia-03-05-blood-pressure-reduction-and-different-c-ebp%C3%AE-dna-binding-pattern-in-telmisartan-treated-angiotensinogen-g-217a-polymorphism-hypertensive-patients
#13
Risa Ramadhiani, Muhammad Saifur Rohman, Nashi Widodo, Valerinna Y S Putri, Mifetika Lukitasari, Jayarani F Putri, Didik H Utomo
OBJECTIVE: To investigate whether the angiotensinogen (AGT) G-217A polymorphism affects blood pressure response of telmisartan and valsartan in hypertensive patients. DESIGN AND METHOD: A total of 46 primary hypertensive patients, 23 patients received telmisartan 80 mg and 23 patients received valsartan 160 mg, were observed and followed up for 4 months. The AGT G-217A polymorphism was determined by PCR-RFLP and direct sequencing method. Blood pressure response was measured daytime (6 am - 10 pm), night-time (10 pm - 6 am), and 24 hours using twenty-four hours ambulatory blood pressure monitoring (ABPM)...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27642947/yia-03-05-blood-pressure-reduction-and-different-c-ebp%C3%AE-dna-binding-pattern-in-telmisartan-treated-angiotensinogen-g-217a-polymorphism-hypertensive-patients
#14
Risa Ramadhiani, Muhammad Saifur Rohman, Nashi Widodo, Valerinna Y S Putri, Mifetika Lukitasari, Jayarani F Putri, Didik H Utomo
OBJECTIVE: To investigate whether the angiotensinogen (AGT) G-217A polymorphism affects blood pressure response of telmisartan and valsartan in hypertensive patients. DESIGN AND METHOD: A total of 46 primary hypertensive patients, 23 patients received telmisartan 80 mg and 23 patients received valsartan 160 mg, were observed and followed up for 4 months. The AGT G-217A polymorphism was determined by PCR-RFLP and direct sequencing method. Blood pressure response was measured daytime (6 am - 10 pm), night-time (10 pm - 6 am), and 24 hours using twenty-four hours ambulatory blood pressure monitoring (ABPM)...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27178530/large-scale-impact-of-climate-change-vs-land-use-change-on-future-biome-shifts-in-latin-america
#15
Alice Boit, Boris Sakschewski, Lena Boysen, Ana Cano-Crespo, Jan Clement, Nashieli Garcia-Alaniz, Kasper Kok, Melanie Kolb, Fanny Langerwisch, Anja Rammig, René Sachse, Michiel van Eupen, Werner von Bloh, Delphine Clara Zemp, Kirsten Thonicke
Climate change and land-use change are two major drivers of biome shifts causing habitat and biodiversity loss. What is missing is a continental-scale future projection of the estimated relative impacts of both drivers on biome shifts over the course of this century. Here, we provide such a projection for the biodiverse region of Latin America under four socio-economic development scenarios. We find that across all scenarios 5-6% of the total area will undergo biome shifts that can be attributed to climate change until 2099...
November 2016: Global Change Biology
https://www.readbyqxmd.com/read/27071313/two-highly-similar-dead-box-proteins-osrh2-and-osrh34-homologous-to-eukaryotic-initiation-factor-4aiii-play-roles-of-the-exon-junction-complex-in-regulating-growth-and-development-in-rice
#16
Chun-Kai Huang, Yi-Syuan Sie, Yu-Fu Chen, Tian-Sheng Huang, Chung-An Lu
BACKGROUND: The exon junction complex (EJC), which contains four core components, eukaryotic initiation factor 4AIII (eIF4AIII), MAGO/NASHI (MAGO), Y14/Tsunagi/RNA-binding protein 8A, and Barentsz/Metastatic lymph node 51, is formed in both nucleus and cytoplasm, and plays important roles in gene expression. Genes encoding core EJC components have been found in plants, including rice. Currently, the functional characterizations of MAGO and Y14 homologs have been demonstrated in rice. However, it is still unknown whether eIF4AIII is essential for the functional EJC in rice...
April 12, 2016: BMC Plant Biology
https://www.readbyqxmd.com/read/27056733/stress-chaperone-mortalin-regulates-human-melanogenesis
#17
Renu Wadhwa, Didik Priyandoko, Ran Gao, Nashi Widodo, Nupur Nigam, Ling Li, Hyo Min Ahn, Chae-Ok Yun, Nobuhiro Ando, Christian Mahe, Sunil C Kaul
In order to identify the cellular factors involved in human melanogenesis, we carried out shRNA-mediated loss-of-function screening in conjunction with induction of melanogenesis by 1-oleoyl-2-acetyl-glycerol (OAG) in human melanoma cells using biochemical and visual assays. Gene targets of the shRNAs (that caused loss of OAG-induced melanogenesis) and their pathways, as determined by bioinformatics, revealed involvement of proteins that regulate cell stress response, mitochondrial functions, proliferation, and apoptosis...
July 2016: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/27007901/identification-and-characterization-of-mago-and-y14-genes-in-hevea-brasiliensis
#18
Zi-Ping Yang, Hui-Liang Li, Dong Guo, Shi-Qing Peng
Mago nashi (MAGO) and Y14 proteins are highly conserved among eukaryotes. In this study, we identified two MAGO (designated as HbMAGO1 andHbMAGO2) and two Y14 (designated as HbY14aand HbY14b) genes in the rubber tree (Hevea brasiliensis) genome annotation. Multiple amino acid sequence alignments predicted that HbMAGO and HbY14 proteins are structurally similar to homologous proteins from other species. Tissue-specific expression profiles showed that HbMAGO and HbY14 genes were expressed in at least one of the tissues (bark, flower, latex, leaf and root) examined...
March 2016: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/26960973/stress-chaperone-mortalin-contributes-to-epithelial-mesenchymal-transition-and-cancer-metastasis
#19
Youjin Na, Sunil C Kaul, Jihoon Ryu, Jung-Sun Lee, Hyo Min Ahn, Zeenia Kaul, Rajkumar S Kalra, Ling Li, Nashi Widodo, Chae-Ok Yun, Renu Wadhwa
Mortalin/mthsp70 (HSPA9) is a stress chaperone enriched in many cancers that has been implicated in carcinogenesis by promoting cell proliferation and survival. In the present study, we examined the clinical relevance of mortalin upregulation in carcinogenesis. Consistent with high mortalin expression in various human tumors and cell lines, we found that mortalin overexpression increased the migration and invasiveness of breast cancer cells. Expression analyses revealed that proteins involved in focal adhesion, PI3K-Akt and JAK-STAT signaling, all known to play key roles in cell migration and epithelial-to-mesenchymal transition (EMT), were upregulated in mortalin-expressing cancer cells...
March 9, 2016: Cancer Research
https://www.readbyqxmd.com/read/26948107/the-long-and-short-of-cephalomedullary-nails-in-the-treatment-of-osteoporotic-pertrochanteric-fracture
#20
Choon Chiet Hong, Nazrul Nashi, Milindu Chanaka Makandura, Jiong Hao Jonathan Tan, Luke Peter, Diarmuid Murphy
INTRODUCTION: Pertrochanteric fractures after low-energy trauma are common among osteoporotic patients. Although the use of intramedullary devices to treat such fractures is becoming increasingly popular, there is a paucity of data comparing the outcomes of the use of short cephalomedullary nails (SCN) with the use of long cephalomedullary nails (LCN). This study aimed to compare the outcomes of treatment using LCN with treatment using SCN for patients with osteoporotic pertrochanteric fractures...
February 2017: Singapore Medical Journal
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