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https://www.readbyqxmd.com/read/29133310/convergent-origination-of-a-drosophila-like-dosage-compensation-mechanism-in-a-reptile-lineage
#1
Ray Marin, Diego Cortez, Francesco Lamanna, Madapura M Pradeepa, Evgeny Leushkin, Philippe Julien, Angélica Liechti, Jean Halbert, Thoomke Brüning, Katharina Mössinger, Timo Trefzer, Christian Conrad, Halie N Kerver, Juli Wade, Patrick Tschopp, Henrik Kaessmann
Sex chromosomes differentiated from different ancestral autosomes in various vertebrate lineages. Here, we trace the functional evolution of the XY Chromosomes of the green anole lizard (Anolis carolinensis), on the basis of extensive high-throughput genome, transcriptome and histone modification sequencing data and revisit dosage compensation evolution in representative mammals and birds with substantial new expression data. Our analyses show that Anolis sex chromosomes represent an ancient XY system that originated at least ≈160 million years ago in the ancestor of Iguania lizards, shortly after the separation from the snake lineage...
November 13, 2017: Genome Research
https://www.readbyqxmd.com/read/29111299/diagnosis-and-treatment-guideline-for-myopic-choroidal-neovascularization-due-to-pathologic-myopia
#2
REVIEW
Kyoko Ohno-Matsui, Yasushi Ikuno, Timothy Y Y Lai, Chui Ming Gemmy Cheung
Pathologic myopia is a leading cause of visual impairment. Development of myopic choroidal neovascularization (CNV) is one of the most common complications that leads to central vision loss in patients with pathologic myopia. If left untreated, it can cause scarring with expanding macular atrophy leading to irreversible visual loss in a period as short as 5 years. Advancements in multimodal imaging technology have furthered our understanding of the condition; however, further studies are necessary to extend its utility in the diagnosis of myopic CNV...
October 27, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29068000/%C3%AE-glucans-in-food-modify-colonic-microflora-by-inducing-antimicrobial-protein-calprotectin-in-a-dectin-1-induced-il-17f-dependent-manner
#3
T Kamiya, C Tang, M Kadoki, K Oshima, M Hattori, S Saijo, Y Adachi, N Ohno, Y Iwakura
Dectin-1 (gene symbol: Clec7a) is a receptor for β-glucans that play an important role for the host defense against fungi. Recently, we showed that Clec7a(-/-) mice are resistant against dextran sodium sulfate (DSS)-induced colitis because of regulatory T-cell population expansion in the colon. The regulatory T-cell expansion is caused by expansion of commensal Lactobacillus murinus whose growth is suppressed by an antimicrobial protein, calprotectin S100A8/A9. In this report, we showed that S100A8 was mainly produced by mouse colonic epithelial cells...
October 25, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/29057641/anti-vascular-endothelial-growth-factor-therapy-for-myopic-choroidal-neovascularization
#4
Danny S C Ng, Timothy Y Y Lai, Chui Ming Gemmy Cheung, Kyoko Ohno-Matsui
Myopic choroidal neovascularization (CNV) is one of the most vision-impairing complications in patients with pathologic myopia. It is also one of the most frequently encountered non‒age-related macular degeneration causes of CNV and affects young patients in the working age group. Fluorescein angiography (FA) and spectral domain optical coherence tomography (OCT) are generally indicated to confirm the diagnosis of active myopic CNV before initiation of treatment. Without treatment, natural history studies have shown that the vision outcome can be very poor...
October 20, 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29023635/intermittent-gait-disturbance-in-idiopathic-normal-pressure-hydrocephalus
#5
Y Nikaido, Y Kajimoto, A Tucker, K Kuroda, H Ohno, T Akisue, R Saura, T Kuroiwa
OBJECTIVES: We identified intermittent gait disturbance (IGD) observed in the mild stage of idiopathic normal pressure hydrocephalus (iNPH). The first purpose of this study was to clarify the temporal gait profile of IGD during long-distance gait. The second purpose was to confirm the difference in treatment effect after cerebrospinal fluid (CSF) shunting in patients with and without IGD. MATERIALS AND METHODS: Fourteen consecutive iNPH patients with mild gait disturbance with a timed up-and-go (TUG) of <20 seconds were prospectively enrolled in the study...
October 11, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28978874/aphanothece-sacrum-sur-okada-prevents-cataractogenesis-in-type-1-diabetic-mice
#6
Shiori Matsuda, Hikari Sugawa, Jun-Ichi Shirakawa, Rei-Ichi Ohno, Sho Kinoshita, Kenta Ichimaru, Shoutaro Arakawa, Mime Nagai, Kiyotaka Kabata, Ryoji Nagai
Aphanothece sacrum (Sur.) Okada is a species of cyanobacteria found in Japan. Although it has been used in local cuisine in Kyushu, Japan, for 250 y, little is known about its beneficial effect as food. The daily intake of health beneficial phytochemicals is believed to be useful for preventing lifestyle-related diseases, such as diabetic cataracts. In this study, the inhibitory effect of freeze-dried A. sacrum (Asa) on the formation of diabetic cataracts (DCs) was evaluated. Type 1 diabetes was induced in mice using streptozotocin (STZ)...
2017: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/28961671/long-term-outcomes-of-ranibizumab-treatment-of-myopic-choroidal-neovascularization-in-east-asian-patients-from-the-radiance-study
#7
Nikolle W Tan, Kyoko Ohno-Matsui, Hyoung J Koh, Yoshimi Nagai, Montse Pedros, Rita L Freitas, Wayne Macfadden, Timothy Y Lai
PURPOSE: To evaluate long-term efficacy and safety of ranibizumab for treatment of myopic choroidal neovascularization (mCNV) in clinical practice. METHODS: Noninterventional, retrospective cohort study of East-Asian patients previously treated with ranibizumab during the RADIANCE trial. Forty-one patients who completed the RADIANCE trial were followed-up for up to 48 months (post-RADIANCE observation period). Outcome measures were best-corrected visual acuity changes from baseline (assessed at RADIANCE trial initiation), mCNV recurrences, and ocular adverse events...
September 27, 2017: Retina
https://www.readbyqxmd.com/read/28916811/an-enu-induced-splice-site-mutation-of-mouse-col1a1-causing-recessive-osteogenesis-imperfecta-and-revealing-a-novel-splicing-rescue
#8
Koichi Tabeta, Xin Du, Kei Arimatsu, Mai Yokoji, Naoki Takahashi, Norio Amizuka, Tomoka Hasegawa, Karine Crozat, Tomoki Maekawa, Sayuri Miyauchi, Yumi Matsuda, Takako Ida, Masaru Kaku, Kasper Hoebe, Kinji Ohno, Hiromasa Yoshie, Kazuhisa Yamazaki, Eva Marie Y Moresco, Bruce Beutler
GU-AG consensus sequences are used for intron recognition in the majority of cases of pre-mRNA splicing in eukaryotes. Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mature mRNA, underlying one common molecular mechanism of genetic diseases. Using N-ethyl-N-nitrosourea, a novel recessive mutation named seal was produced, associated with fragile bones and susceptibility to fractures (spine and limbs). A single nucleotide transversion (T → A) at the second position of intron 36 of the Col1a1 gene, encoding the type I collagen, α1 chain, was responsible for the phenotype...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28914051/chromosome-centric-human-proteome-project-allies-with-developmental-biology-a-case-study-of-the-role-of-y-chromosome-genes-in-organ-development
#9
Anna Meyfour, Paria Pooyan, Sara Pahlavan, Mostafa Rezaei-Tavirani, Hamid Gourabi, Hossein Baharvand, Ghasem Hosseini Salekdeh
One of the main goals of Chromosome-Centric Human Proteome Project is to identify protein evidence for missing proteins (MPs). Here, we present a case study of the role of Y chromosome genes in organ development and how to overcome the challenges facing MPs identification by employing human pluripotent stem cell differentiation into cells of different organs yielding unprecedented biological insight into adult silenced proteins. Y chromosome is a male-specific sex chromosome which escapes meiotic recombination...
October 11, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28774589/biallelic-mutations-in-kdsr-disrupt-ceramide-synthesis-and-result-in-a%C3%A2-spectrum-of-keratinization-disorders-associated-with-thrombocytopenia
#10
Takuya Takeichi, Antonio Torrelo, John Y W Lee, Yusuke Ohno, María Luisa Lozano, Akio Kihara, Lu Liu, Yuka Yasuda, Junko Ishikawa, Takatoshi Murase, Ana Belén Rodrigo, Pablo Fernández-Crehuet, Yoichiro Toi, Jemima Mellerio, José Rivera, Vicente Vicente, David P Kelsell, Yutaka Nishimura, Yusuke Okuno, Daiei Kojima, Yasushi Ogawa, Kazumitsu Sugiura, Michael A Simpson, W H Irwin McLean, Masashi Akiyama, John A McGrath
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms, soles, and anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin...
November 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28736028/association-between-tacrolimus-pharmacokinetics-and-cytochrome-p450-3a5-and-multidrug-resistance-protein-1-exon-21-polymorphisms
#11
M Soda, M Fujitani, R Michiuchi, A Shibayama, K Kanamori, S Yoshikuni, Y Ohno, T Tsuchiya, A Suzuki, K Horie, T Deguchi, Y Itoh, K Kitaichi
BACKGROUND: Individual differences in the pharmacokinetics (PK) of tacrolimus (TAC), an immunosuppressive drug, are reportedly associated with single-nucleotide polymorphisms (SNPs) of cytochrome P450 (CYP) 3A5 and multidrug resistance protein 1 (MDR1). We determined the effect of SNPs in CYP3A5 and MDR1 exons 21 and 26 on TAC PK parameters. METHODS: Thirty-eight Japanese patients who underwent renal transplantation were genotyped for CYP3A5 and exons 21 and 26 of MDR1 with the use of polymerase chain reaction-restriction fragment length polymorphism analysis...
July 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28726789/predominant-area-of-brain-lesions-in-neonates-with-herpes-simplex-encephalitis
#12
H Kidokoro, L S de Vries, C Ogawa, Y Ito, A Ohno, F Groenendaal, S Saitoh, A Okumura, Y Ito, J Natsume
OBJECTIVE: Nonspecific manifestations and a varied distribution of brain lesions can delay the diagnosis of herpes simplex encephalitis (HSE) in neonates. The aim of this study was to report predominant brain lesions in neonatal HSE, and then to investigate the association between pattern of predominant brain lesions, clinical variables and neurodevelopmental outcome. STUDY DESIGN: A multicenter retrospective study was performed in neonates diagnosed with HSE between 2009 and 2014...
November 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28686305/nanoscopic-analysis-of-oxygen-segregation-at-tilt-boundaries-in-silicon-ingots-using-atom-probe-tomography-combined-with-tem-and-ab-initio-calculations
#13
Y Ohno, K Inoue, K Fujiwara, K Kutsukake, M Deura, I Yonenaga, N Ebisawa, Y Shimizu, K Inoue, Y Nagai, H Yoshida, S Takeda, S Tanaka, M Kohyama
We have developed an analytical method to determine the segregation levels on the same tilt boundaries (TBs) at the same nanoscopic location by a joint use of atom probe tomography and scanning transmission electron microscopy, and discussed the mechanism of oxygen segregation at TBs in silicon ingots in terms of bond distortions around the TBs. The three-dimensional distribution of oxygen atoms was determined at the typical small- and large-angle TBs by atom probe tomography with a low impurity detection limit (0...
July 7, 2017: Journal of Microscopy
https://www.readbyqxmd.com/read/28677888/laparoscopic-total-gastrectomy-for-advanced-gastric-cancer-in-a-patient-with-situs-inversus-totalis
#14
Kengo Shibata, Hideki Kawamura, Nobuki Ichikawa, Kazuaki Shibuya, Tadashi Yoshida, Yosuke Ohno, Shigenori Homma, Akinobu Taketomi
Situs inversus totalis (SIT) is a rare congenital anomaly. Generally, laparoscopic surgery is difficult to perform in patients with SIT because of both the potential challenges associated with unexpected vascular anomalies and the lack of standardized strategy for handling such cases. This is the first report of laparoscopic total gastrectomy with lymph node dissection for advanced gastric cancer in a patient with SIT. A 79-year-old man with SIT was diagnosed with advanced gastric cancer. We performed laparoscopic total gastrectomy with modified D2 lymph node dissection (D2 without splenectomy) and esophagojejunal anastomosis using an overlap method involving retrocolic Roux-en-Y reconstruction...
July 5, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28655539/myopic-choroidal-neovascularization-review-guidance-and-consensus-statement-on-management
#15
REVIEW
Chui Ming Gemmy Cheung, Jennifer J Arnold, Frank G Holz, Kyu Hyung Park, Timothy Y Y Lai, Michael Larsen, Paul Mitchell, Kyoko Ohno-Matsui, Shih-Jen Chen, Sebastian Wolf, Tien Yin Wong
TOPIC: The aim of this article is to review and compile available information on the classification, pathophysiology, and clinical features of myopic choroidal neovascularization (CNV); to describe the latest data on the management of this disease; and to present guidance. CLINICAL RELEVANCE: In the United States, myopia affects approximately 34 million people (2010), and similar figures have been reported in Europe. Pathologic myopia (PM), a possible consequence of myopia, is estimated to affect up to 3% of the global population...
November 2017: Ophthalmology
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#16
REVIEW
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis...
November 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28494704/endoscopic-cytology-for-the-diagnosis-of-chronic-enteritis-and-intestinal-lymphoma-in-dogs
#17
S Maeda, M Tsuboi, K Sakai, K Ohno, K Fukushima, H Kanemoto, S Hiyoshi-Kanemoto, Y Goto-Koshino, J K Chambers, T Yonezawa, K Uchida, N Matsuki
Although cytology is a rapid diagnostic procedure in dogs, the cytologic criteria of endoscopic biopsies for chronic enteritis and intestinal lymphoma are not well defined. An immediate diagnosis using cytology would benefit patients by enabling prompt initiation of therapy. The objective of this study was to investigate the correlation between the results of endoscopic cytology and histopathology. In this study, 167 dogs with clinical signs of chronic gastrointestinal disease were included. On the basis of histopathology, the following diagnoses were determined: lymphocytic-plasmacytic enteritis in 93 dogs; eosinophilic enteritis in 5 dogs; small cell intestinal lymphoma in 45 dogs; and large cell intestinal lymphoma in 24 dogs...
July 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28493058/c-terminal-cleavage-of-the-lh1-%C3%AE-polypeptide-in-the-sr-2-cultured-thermochromatium-tepidum
#18
Yukihiro Kimura, Tomoaki Kawakami, Teruhisa Arikawa, Yong Li, Long-Jiang Yu, Takashi Ohno, Michael T Madigan, Zheng-Yu Wang-Otomo
The light-harvesting 1 reaction center (LH1-RC) complex in the thermophilic purple sulfur bacterium Thermochromatium (Tch.) tepidum binds Ca ions as cofactors, and Ca-binding is largely involved in its characteristic Q y absorption at 915 nm and enhanced thermostability. Ca(2+) can be biosynthetically replaced by Sr(2+) in growing cultures of Tch. tepidum. However, the resulting Sr(2+)-substituted LH1-RC complexes in such cells do not display the absorption maximum and thermostability of those from Ca(2+)-grown cells, signaling that inherent structural differences exist in the LH1 complexes between the Ca(2+)- and Sr(2+)-cultured cells...
May 10, 2017: Photosynthesis Research
https://www.readbyqxmd.com/read/28448089/bone-degeneration-and-its-recovery-in-smp30-gnl-knockout-mice
#19
K Nishijima, T Ohno, A Amano, Y Kishimoto, Y Kondo, A Ishigami, S Tanaka
Senescence marker protein-30 (SMP30) decreases androgen-independently with aging and is a lactone-hydrolyzing enzyme gluconolactonase (GNL) that is involved in vitamin C biosynthesis. In the present study, bone properties of SMP30/GNL knockout (KO) mice with deficiency in vitamin C synthesis were investigated to reveal the effects of SMP30/GNL and exogenous vitamin C supplementation on bone formation. Mineral content (BMC) and mineral density (BMD) of the mandible and femur of SMP30/GNL KO and wild-type mice at 2 and 3 months of age with or without vitamin C supplementation were measured by dual-energy X-ray absorptiometry...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/28405378/a-unified-model-of-the-standard-genetic-code
#20
Marco V José, Gabriel S Zamudio, Eberto R Morgado
The Rodin-Ohno (RO) and the Delarue models divide the table of the genetic code into two classes of aminoacyl-tRNA synthetases (aaRSs I and II) with recognition from the minor or major groove sides of the tRNA acceptor stem, respectively. These models are asymmetric but they are biologically meaningful. On the other hand, the standard genetic code (SGC) can be derived from the primeval RNY code (R stands for purines, Y for pyrimidines and N any of them). In this work, the RO-model is derived by means of group actions, namely, symmetries represented by automorphisms, assuming that the SGC originated from a primeval RNY code...
March 2017: Royal Society Open Science
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