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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
#1
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
#2
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...
September 15, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28774589/biallelic-mutations-in-kdsr-disrupt-ceramide-synthesis-and-result-in-a-spectrum-of-keratinization-disorders-associated-with-thrombocytopenia
#3
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 and soles as well as anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin...
July 31, 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
#4
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
#5
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...
July 20, 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
#6
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
#7
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
#8
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...
June 24, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#9
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or azoospermia. 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. Consistently 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...
June 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28494704/endoscopic-cytology-for-the-diagnosis-of-chronic-enteritis-and-intestinal-lymphoma-in-dogs
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28337663/outcomes-of-fulvestrant-therapy-among-japanese-women-with-advanced-breast-cancer-a-retrospective-multicenter-cohort-study-jbcrg-c06-safari
#14
H Kawaguchi, N Masuda, T Nakayama, K Aogi, K Anan, Y Ito, S Ohtani, N Sato, S Saji, E Tokunaga, S Nakamura, Y Hasegawa, M Hattori, T Fujisawa, S Morita, M Yamaguchi, T Yamashita, Y Yamamoto, S Ohno, M Toi
PURPOSE: This retrospective study evaluated the effect of clinical background and treatment line on time to treatment failure (TTF) in advanced/metastatic breast cancer (AMBC) patients receiving F500 in Japan (UMIN 000015168). METHODS: Patients who commenced F500 treatment were registered at 16 sites in Japan. Correlations between baseline clinicopathological factors, treatment line, and TTF were investigated by Kaplan-Meier analysis. TTF data were analyzed using univariate analysis and multivariate analysis with a Cox proportional hazards model...
March 23, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28330793/outcomes-in-transcatheter-aortic-valve-replacement-for-bicuspid-versus-tricuspid%C3%A2-aortic%C3%A2-valve-stenosis
#15
MULTICENTER STUDY
Sung-Han Yoon, Sabine Bleiziffer, Ole De Backer, Victoria Delgado, Takahide Arai, Johannes Ziegelmueller, Marco Barbanti, Rahul Sharma, Gidon Y Perlman, Omar K Khalique, Erik W Holy, Smriti Saraf, Florian Deuschl, Buntaro Fujita, Philipp Ruile, Franz-Josef Neumann, Gregor Pache, Masao Takahashi, Hidehiro Kaneko, Tobias Schmidt, Yohei Ohno, Niklas Schofer, William K F Kong, Edgar Tay, Daisuke Sugiyama, Hiroyuki Kawamori, Yoshio Maeno, Yigal Abramowitz, Tarun Chakravarty, Mamoo Nakamura, Shingo Kuwata, Gerald Yong, Hsien-Li Kao, Michael Lee, Hyo-Soo Kim, Thomas Modine, S Chiu Wong, Francesco Bedgoni, Luca Testa, Emmanuel Teiger, Christian Butter, Stephan M Ensminger, Ulrich Schaefer, Danny Dvir, Philipp Blanke, Jonathon Leipsic, Fabian Nietlispach, Mohamed Abdel-Wahab, Bernard Chevalier, Corrado Tamburino, David Hildick-Smith, Brian K Whisenant, Seung-Jung Park, Antonio Colombo, Azeem Latib, Susheel K Kodali, Jeroen J Bax, Lars Søndergaard, John G Webb, Thierry Lefèvre, Martin B Leon, Raj Makkar
BACKGROUND: Transcatheter aortic valve replacement (TAVR) is being increasingly performed in patients with bicuspid aortic valve stenosis (AS). OBJECTIVES: This study sought to compare the procedural and clinical outcomes in patients with bicuspid versus tricuspid AS from the Bicuspid AS TAVR multicenter registry. METHODS: Outcomes of 561 patients with bicuspid AS and 4,546 patients with tricuspid AS were compared after propensity score matching, assembling 546 pairs of patients with similar baseline characteristics...
May 30, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28327998/3rd-eso-esmo-international-consensus-guidelines-for-advanced-breast-cancer-abc-3
#16
F Cardoso, A Costa, E Senkus, M Aapro, F André, C H Barrios, J Bergh, G Bhattacharyya, L Biganzoli, M J Cardoso, L Carey, D Corneliussen-James, G Curigliano, V Dieras, N El Saghir, A Eniu, L Fallowfield, D Fenech, P Francis, K Gelmon, A Gennari, N Harbeck, C Hudis, B Kaufman, I Krop, M Mayer, H Meijer, S Mertz, S Ohno, O Pagani, E Papadopoulos, F Peccatori, F Penault-Llorca, M J Piccart, J Y Pierga, H Rugo, L Shockney, G Sledge, S Swain, C Thomssen, A Tutt, D Vorobiof, B Xu, L Norton, E Winer
No abstract text is available yet for this article.
February 19, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28177437/3rd-eso-esmo-international-consensus-guidelines-for-advanced-breast-cancer-abc-3
#17
F Cardoso, A Costa, E Senkus, M Aapro, F André, C H Barrios, J Bergh, G Bhattacharyya, L Biganzoli, M J Cardoso, L Carey, D Corneliussen-James, G Curigliano, V Dieras, N El Saghir, A Eniu, L Fallowfield, D Fenech, P Francis, K Gelmon, A Gennari, N Harbeck, C Hudis, B Kaufman, I Krop, M Mayer, H Meijer, S Mertz, S Ohno, O Pagani, E Papadopoulos, F Peccatori, F Pernault-Llorca, M J Piccart, J Y Pierga, H Rugo, L Shockney, G Sledge, S Swain, C Thomssen, A Tutt, D Vorobiof, B Xu, L Norton, E Winer
No abstract text is available yet for this article.
January 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28133732/analysis-of-serum-corticosteroid-induced-alkaline-phosphatase-isoenzyme-in-dogs-with-hepatobiliary-diseases
#18
K Kojima, K Ohno, H Kanemoto, Y Goto-Koshino, K Fukushima, H Tsujimoto
OBJECTIVE: To reveal the relationship between canine corticosteroid-induced alkaline phosphatase isoenzyme activity and hepatobiliary diseases. MATERIALS AND METHODS: Retrospective analysis of the relationship between serum corticosteroid-induced alkaline phosphatase activity and diagnosis, serum cortisol concentration and alanine transferase activity in dogs with hepatobiliary diseases. Dogs with a history of glucocorticoid administration were excluded. RESULTS: Seventy-two dogs with hepatobiliary diseases were analysed...
January 30, 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/28109648/corrigendum-to-3rd-eso-esmo-international-consensus-guidelines-for-advanced-breast-cancer-abc-3-breast-31-february-2017-244-259
#19
F Cardoso, A Costa, E Senkus, M Aapro, F André, C H Barrios, J Bergh, G Bhattacharyya, L Biganzoli, M J Cardoso, L Carey, D Corneliussen-James, G Curigliano, V Dieras, N El Saghir, A Eniu, L Fallowfield, D Fenech, P Francis, K Gelmon, A Gennari, N Harbeck, C Hudis, B Kaufman, I Krop, M Mayer, H Meijer, S Mertz, S Ohno, O Pagani, E Papadopoulos, F Peccatori, F Penault-Llorca, M J Piccart, J Y Pierga, H Rugo, L Shockney, G Sledge, S Swain, C Thomssen, A Tutt, D Vorobiof, B Xu, L Norton, E Winer
No abstract text is available yet for this article.
April 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28095473/the-asymmetric-cell-division-regulators-par3-scribble-and-pins-gpsm2-are-not-essential-for-erythroid-development-or-enucleation
#20
Christina B Wölwer, Nathan Gödde, Luke B Pase, Imogen A Elsum, Krystle Y B Lim, Faruk Sacirbegovic, Carl R Walkley, Sarah Ellis, Shigeo Ohno, Fumio Matsuzaki, Sarah M Russell, Patrick O Humbert
Erythroid enucleation is the process by which the future red blood cell disposes of its nucleus prior to entering the blood stream. This key event during red blood cell development has been likened to an asymmetric cell division (ACD), by which the enucleating erythroblast divides into two very different daughter cells of alternate molecular composition, a nucleated cell that will be removed by associated macrophages, and the reticulocyte that will mature to the definitive erythrocyte. Here we investigated gene expression of members of the Par, Scribble and Pins/Gpsm2 asymmetric cell division complexes in erythroid cells, and functionally tested their role in erythroid enucleation in vivo and ex vivo...
2017: PloS One
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