Results 51 to 60 of about 512 (102)

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease [PDF]

, 2015
SummaryDevelopment of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly
Karaer, Kadri, Muzny, Donna M., Erdin, Serkan, Candan, Sukru, Jain, Preti, Overton, John D., Aslan, Huseyin, Durmaz, Burak, Ture, Mehmet, Ozen, Mustafa, Harel, Tamar, Aydin, Hatip, Jhangiani, Shalini N., Aktas, Dilek, Coban Akdemir, Zeynep, Cebi, Alper Han, Yuksel, Adnan, Ulucan, Hakan, Ikbal, Mevlit, Lupski, James R., Aydın, Hatip, Aksoy, Ayse, Akdemir, Zeynep Coban, Koparır, Asuman, Bozdogan, Sevcan Tug, Gezdirici, Alper, Kirat, Emre, Koparır, Erkan, Topcu, Vehap, Ozkinay, Ferda, Yuregir, Ozge O., Ekici, Fatma, Hunter, Jill V., Isikay, Sedat, Gonzaga-Jauregui, Claudia, Cicek, Salih, Gul, Davut, Elcioglu, Nursel, ÇOĞULU, MUHSİN ÖZGÜR, Pehlivan, Davut, Yesil, Gozde, Karaca, Ender, Alikaşifoğlu, Mehmet, Tos, Tulay, Tug Bozdogan, Sevcan, Fenercioglu, Elif, De Vivo, Darryl C., Guran, Tulay, Gulec, Elif Yilmaz, GEÇKİNLİ, BİLGEN BİLGE, Işıkay, Sedat, Yilmaz Gulec, Elif, Chung, Wendy K., Boerwinkle, Eric, Özkınay, Ferda, Duz, Mehmet Bugrahan, Koparir, Erkan, Kırat, Emre, Gibbs, Richard A., Geckinli, B. Bilge, Atik, Mehmed M., Yuan, Bo, Koparir, Asuman, Bayram, Yavuz, Adams, David R., Yüregir, Özge Özallp, Wiszniewski, Wojciech, Cogulu, Ozgur, Güleç, Elif Yılmaz, Seven, Mehmet, Van Esch, Hilde, Yakut, Tahsin, Yıldırım, Mahmut Selman, Sezer, Ozlem, Coskun, Salih, Yildirim, Mahmut Selman, Campbell, Ian M., Gambin, Tomasz   +77 more
core   +2 more sources

The human RNA helicase DHX37 is required for release of the U3 snoRNP from pre-ribosomal particles

, 2018
Ribosome synthesis is an essential cellular process, and perturbation of human ribosome production is linked to cancer and genetic diseases termed ribosomopathies. During their assembly, pre-ribosomal particles undergo numerous structural rearrangements,
Hackert, Philipp, Memet, Indira, Bohnsack, Markus T., Sloan, Katherine E., Choudhury, Priyanka   +4 more
core   +1 more source

The progression of acute myeloid leukemia from first diagnosis to chemoresistant relapse: A comparison of proteomic and phosphoproteomic profiles [PDF]

, 2020
Acute myeloid leukemia (AML) is an aggressive hematological malignancy. Nearly 50% of the patients who receive the most intensive treatment develop chemoresistant leukemia relapse.
Elise Aasebø, Selheim, Frode, Stein Ove Døskeland, Øystein Bruserud, Hovland, Randi, Frode S. Berven, Berven, Frode, Maria Hernandez-Valladares, Frode Selheim, Randi Hovland, Aasebø, Elise, Doskeland, Stein Ove, Bruserud, Øystein, Hernandez-Valladares, Maria   +13 more
core   +1 more source

Unveiling a cuproptosis-related risk model and the role of FARSB in hepatocellular carcinoma

Heliyon
Background: Cuproptosis, a type of regulated cell death that was recently identified, has been linked to the development of a variety of diseases, among them being cancers.
Junlin Duan, Xuan Zhang, Jingyu Xu, Jun Liu, Hetong Zhao   +4 more
doaj   +1 more source

DataSheet1_Machine Learning Screens Potential Drugs Targeting a Prognostic Gene Signature Associated With Proliferation in Hepatocellular Carcinoma.docx

, 2022
Background: This study aimed to screen potential drugs targeting a new prognostic gene signature associated with proliferation in hepatocellular carcinoma (HCC).Methods: CRISPR Library and TCGA datasets were used to explore differentially expressed genes
Wenli Li (337819), Jianjun Lu (2737579), Yamin Lu (12965471), Jun Liu (42548), Wenjie Mao (717798)   +4 more
core   +1 more source

Supplementary Material for: DHX37 Variant is One of Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome / Partial Gonadal Dysgenesis without Müllerian Derivatives

Introduction: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress.
Nakano S. (4132612), Narumi S. (15211186), Sato T. (3363755), Hamajima T. (17962910), Ichihashi Y. (17962907), Shimura K. (7427642), Numasawa K. (17962913), Hasegawa T. (3126303), Ishii T. (3126300)   +8 more
core   +1 more source

Novel perspectives of the genetic etiology of the 46, XY disorders of sex development

, 2019
Os distúrbios do desenvolvimento sexual (DDS) 46,XY constituem um grupo de doenças com etiologia heterogênea, o que dificulta a análise molecular pela tradicional estratégia de estudo do gene candidato.
Gomes, Nathália Lisboa Rosa Almeida
core   +1 more source

The DEAH-box RNA helicase Dhr1 contains a remarkable carboxyl terminal domain essential for small ribosomal subunit biogenesis [PDF]

, 2019
International audienceRibosome biogenesis is an essential process in all living cells, which entails countless highly sequential and dynamic structural reorganization events. These include formation of dozens RNA helices through Watson-Crick base-pairing
Graille, Marc, Joret, C, Graille, M, Lafontaine, Denis, Bourgeois, Gabrielle, Bourgeois, G, Roychowdhury, A, Joret, Clément, Heurgué-Hamard, Valérie, Lafontaine, DLJ, Roychowdhury, Amlan, Heurgué-Hamard, V   +11 more
core   +1 more source

RT-PCR of Scarb1 and surrounding genes on mouse Chr 5.

, 2013
Liver tissue examined in mutant Scarb1I179N and B6 control mice (N = 4). Additional genes that mapped in the region and were expressed in the liver according to the SymATLAS database [17] were also tested; Ncor2, Dhx37, Bri3bp, and Aacs; but none showed ...
Yanina Langle (360584), John S. Millar (371292), Sara K. VanOrman (371290), Ioannis M. Stylianou (371288), Daniel J. Rader (113673), Karen L. Svenson (310958), Beverly Paigen (18314)   +6 more
core   +1 more source

Identification of host DEAD-box RNA helicases that regulate cellular tropism of oncolytic Myxoma virus in human cancer cells

, 2017
Myxoma virus (MYXV), a Leporipoxvirus, is being developed as an oncolytic virotherapeutic for the treatment of a variety of human cancers. MYXV tropism for human cancer cells is largely mediated by intracellular signaling networks that regulate viral ...
Masmudur M. Rahman, Eugenie Bagdassarian, Mohamed A. M. Ali, Ali, Mohamed A. M., Bagdassarian, Eugenie, McFadden, Grant, Rahman, Masmudur M., Grant McFadden   +7 more
core   +2 more sources