A single extra copy of Down syndrome critical region 1–4 results in impaired hepatic glucose homeostasis by Dong Soo Seo, Gia Cac Chau, Kwan-Hyuck Baek, Sung Hee Um

“…Here, we examined the physiological role of Down syndrome critical region 1–4 (DSCR1-4), an endogenous calcineurin signaling inhibitor in the liver that mediates metabolic adaptation to fasting. …”
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Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? by Flavio Rizzolio, Silvia Bione, Cinzia Sala, Carla Tribioli, Roberto Ciccone, Orsetta Zuffardi, Natascia di Iorgi, Mohamad Maghnie, Daniela Toniolo

“…Chromosomal rearrangements may also be involved in short stature and, among others, deletions of 18q23 defined a critical region for the disorder. No gene was yet identified.We now report a balanced translocation X;18 in a patient presenting a breakpoint in 18q23 that was surprisingly mapped about 500 Kb distal from the short stature critical region. …”
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Disruption of neurogenesis and cortical development in transgenic mice misexpressing Olig2, a gene in the Down syndrome critical region by Wei Liu, Hui Zhou, Lei Liu, Chuntao Zhao, Yaqi Deng, Lina Chen, Laiman Wu, Nicole Mandrycky, Christopher T. McNabb, Yuanbo Peng, Perry N. Fuchs, Jie Lu, Volney Sheen, Mengsheng Qiu, Meng Mao, Q. Richard Lu

“…Human ortholog OLIG2 is located in the Down syndrome critical region in trisomy 21. To investigate the effect of Olig2 misexpression on brain development, we generated a developmentally regulated Olig2-overexpressing transgenic line with a Cre/loxP system. …”
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The Generation of Rifaat Al-Chaderchi Facades Using Standard Shape Grammars by Prof. Dr. Ali H. Al-Jameel, Rana M. Hamid

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On Common Ground: Translocal Attachments and Transethnic Affiliations in Agha Shahid Ali’s and Arthur Sze’s Poetry of the American Southwest by Judith Rauscher

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Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis. by Sacha A Jensen, Ondine Atwa, Penny A Handford

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A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. by Theru A Sivakumaran, Robert P Igo, Jeffrey M Kidd, Andy Itsara, Laura J Kopplin, Wei Chen, Stephanie A Hagstrom, Neal S Peachey, Peter J Francis, Michael L Klein, Emily Y Chew, Vedam L Ramprasad, Wan-Ting Tay, Paul Mitchell, Mark Seielstad, Dwight E Stambolian, Albert O Edwards, Kristine E Lee, Dmitry V Leontiev, Gyungah Jun, Yang Wang, Liping Tian, Feiyou Qiu, Alice K Henning, Thomas LaFramboise, Parveen Sen, Manoharan Aarthi, Ronnie George, Rajiv Raman, Manmath Kumar Das, Lingam Vijaya, Govindasamy Kumaramanickavel, Tien Y Wong, Anand Swaroop, Goncalo R Abecasis, Ronald Klein, Barbara E K Klein, Deborah A Nickerson, Evan E Eichler, Sudha K Iyengar

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Inverse Comorbidity between Down Syndrome and Solid Tumors: Insights from In Silico Analyses of Down Syndrome Critical Region Genes by Kwadwo Fosu, Jude Tetteh Quarshie, Kwabena Amofa Nketia Sarpong, Anastasia Rosebud Aikins

“…An inverse comorbidity has been observed between Down syndrome (DS) and solid tumors such as breast and lung cancers, and it is posited that the overexpression of genes within the Down Syndrome Critical Region (DSCR) of human chromosome 21 may account for this phenomenon. …”
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Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome by Thiago Corrêa, Bruno César Feltes, Mariluce Riegel

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13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor Delay by Flavia Privitera, Arianna Calonaci, Gabriella Doddato, Filomena Tiziana Papa, Margherita Baldassarri, Anna Maria Pinto, Francesca Mari, Ilaria Longo, Mauro Caini, Daniela Galimberti, Theodora Hadjistilianou, Sonia De Francesco, Alessandra Renieri, Francesca Ariani

“…This allowed defining a minimal critical region for ID that excludes the previously suggested candidate genes (<i>HTR2A</i>, <i>NUFIP1</i>, <i>PCDH8</i>, and <i>PCDH17)</i>. …”
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Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration. by Theru A Sivakumaran, Robert P Igo, Jeffrey M Kidd, Andy Itsara, Laura J Kopplin, Wei Chen, Stephanie A Hagstrom, Neal S Peachey, Peter J Francis, Michael L Klein, Emily Y Chew, Vedam L Ramprasad, Wan-Ting Tay, Paul Mitchell, Mark Seielstad, Dwight E Stambolian, Albert O Edwards, Kristine E Lee, Dmitry V Leontiev, Gyungah Jun, Yang Wang, Liping Tian, Feiyou Qiu, Alice K Henning, Thomas LaFramboise, Parveen Sen, Manoharan Aarthi, Ronnie George, Rajiv Raman, Manmath Kumar Das, Lingam Vijaya, Govindasamy Kumaramanickavel, Tien Y Wong, Anand Swaroop, Goncalo R Abecasis, Ronald Klein, Barbara E K Klein, Deborah A Nickerson, Evan E Eichler, Sudha K Iyengar

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Comparative transcription map of the <it>wobbler</it> critical region on mouse chromosome 11 and the homologous region on human chromosome 2p13-14 by Platzer Matthias, Ulbrich Michael, Thiel Cora, Resch Karin, Fuchs Sonja, Jockusch Harald, Schmitt-John Thomas

“…We investigated the <it>wobbler</it> critical region by extensive STS/EST mapping and genomic sequencing. …”
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Molecular dissection of TatC defines critical regions essential for protein transport and a TatB-TatC contact site by Kneuper, H, Maldonado, B, Jäger, F, Krehenbrink, M, Buchanan, G, Keller, R, Müller, M, Berks, B, Palmer, T

Characterizing Non-nesting for the Neyman-Pearson Family of Tests by Rahul Bhattacharya

Subjects: “…Nested critical region; Most Powerful test…”
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Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region by Meng-Che Tsai, Yen-Yin Chou, Jieh-Neng Wang, Jing-Ming Wu, Chao-Ching Huang, Pao-Lin Kuo, Yi-Shan Tsai

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Mutation of Gtf2ird1 from the Williams–Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations by Monique L. Howard, Stephen J. Palmer, Kylie M. Taylor, Geoffrey J. Arthurson, Matthew W. Spitzer, Xin Du, Terence Y.C. Pang, Thibault Renoir, Edna C. Hardeman, Anthony J. Hannan

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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 by Maria Chiara Pelleri, Elena Cicchini, Michael B. Petersen, Lisbeth Tranebjærg, Teresa Mattina, Pamela Magini, Francesca Antonaros, Maria Caracausi, Lorenza Vitale, Chiara Locatelli, Marco Seri, Pierluigi Strippoli, Allison Piovesan, Guido Cocchi

Subjects: “…highly restricted Down syndrome critical region…”
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<it>CADM1 </it>is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23 by Eggert Angelika, De Paepe Anne, Brichard Bénédicte, Schramm Alexander, De Preter Katleen, Hoebeeck Jasmien, Michels Evi, Laureys Geneviève, Vandesompele Jo, Speleman Frank

“…</p> <p>Results</p> <p>Two small critical regions of loss within 11q23 at chromosomal band 11q23.1-q23.2 (1.79 Mb) and 11q23.2-q23.3 (3.72 Mb) were identified. …”
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Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms by Francesca Antonaros, Margherita Pitocco, Domenico Abete, Beatrice Vione, Allison Piovesan, Lorenza Vitale, Pierluigi Strippoli, Maria Caracausi, Maria Chiara Pelleri

“…The highly restricted Down syndrome critical region (HR-DSCR) is a region of Hsa21 present in three copies in all individuals with PT21 and a diagnosis of DS. …”
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Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome. by Ee-Cheng Khor, Bruce Fanshawe, Yue Qi, Sergei Zolotukhin, Rishikesh N Kulkarni, Ronaldo F Enriquez, Louise Purtell, Nicola J Lee, Natalie K Wee, Peter I Croucher, Lesley Campbell, Herbert Herzog, Paul A Baldock

“…A number of causative loci have been located within the imprinted Prader-Willi Critical Region (PWCR), including a set of small non-translated nucleolar RNA's (snoRNA). …”
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