Results 51 to 60 of about 237,110 (353)
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
Frontiers in Genetics, 2022 Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right patterning, Dinu Antony, Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Han G. Brunner, Peter Walentek, Peter Walentek, Sebastian J. Arnold, Sebastian J. Arnold, Rolf Backofen, Rolf Backofen, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts +20 moredoaj +1 more sourceRapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy. [PDF]
, 2017 Current cell-free DNA (cfDNA) next generation sequencing (NGS) precision oncology workflows are typically limited to targeted and/or disease-specific applications.Alva, Ajjai S, Brockman, Scott, Chinnaiyan, Arul M, Chugh, Rashmi, Feng, Felix Y, Grasso, Catherine S, Gursky, Amy, Haakenson, Christine, Henderson, James, Herman, Kirk, Hovelson, Daniel H, Husain, Hatim, Hussain, Maha H, Kamberov, Emmanuel, Kandarpa, Malathi, Kang, Qing, Krauss, John C, Langmore, John, Liu, Chia-Jen, Lonigro, Robert J, Mills, Ryan E, Morgan, Todd M, Quist, Michael J, Ramnath, Nithya, Robinson, Dan, Smith, David C, Talpaz, Moshe, Tesmer, Tim, Tewari, Muneesh, Tomlins, Scott A, Tuck, Missy, Wang, Yugang +31 morecore +1 more sourceBi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. [PDF]
, 2020 Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have A. Athanasiou-Fragkouli, A. Begtrup, A. Bisgin, A. Carr, A. Pittman, A. Richard-Loendt, A. Verrotti, A.M. Ruiz, B. Cormand, B. Garavaglia, B. Kalmar, B. O&apos, B. Perez-Duenas, B.M. Karashova, B.M. Sanchez, C. Beetz, C. Macmillan, C. Scuderi, D. Avdjieva, D. Timmann, E. Borgione, E. Dardiotis, E. Torti, E.Z. Papanicolaou, F. Al-Mutairi, F. Launchbury, G. Di Rosa, G. Heimer, G. Hotton, G. Koutsis, G. Marseglia, G. McDonnell, G. Morello, H. Houlden, H. Kathom, H. Sherifa, I. Al-Khawaja, J. Althonayan, J. McKinley, J. Mine, J.H. Livingston, J.R. Mendes de Oliveira, J.S. Goraya, L. Arning, L. Greensmith, L.V. Schottlaender, M. Aurrand-Lions, M. Breza, M. de Grandis, M. Garcia-Silva, M. Pineda-Marfa, M. Vikelis, M. Zollo, M.D. Ferrari, M.P.M. Soutar, N.N. Rana, O. Atawneh, O. Swayne, P. Giunti, P. Striano, P. Veggiotti, P.J. Morrison, R. Abeti, R. Boles, R. Forbes, R. Maroofian, R. Tincheva, S. Banu, S. Boesch, S. Brandner, S. Efthymiou, S. Groppa, S. Ibrahim, S. Khan, S. Kirmani, S. Mangano, S. Maqbool, S. Papacostas, S. Portaro, S. Savasta, S. Tug Bozdogan, T. Stojkovic, T. Sultan, V. Chelban, W. Nachbauer, Y.A. Dauvilliers, Z. Jaunmuktane +86 morecore +8 more sourcesIntegrated genomic and proteomic profiling reveals insights into chemoradiation resistance in cervical cancer
Molecular Oncology, EarlyView.A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.Janani Sambath, Irene A. George, Srikanth S. Manda, Prasanth Ariyannur, Ekta R. Dhawale, Raja Sekhar Kommu, Rajan Datar, Darshana Patil, Vinita Trivedi, Manisha Singh, Kumar Prabhash, Sewanti Limaye, Richa Chauhan, Prashant Kumar +13 morewiley +1 more sourceSystems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]
, 2020 Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph +25 morecore Predictors of response and rational combinations for the novel MCL‐1 inhibitor MIK665 in acute myeloid leukemia
Molecular Oncology, EarlyView.This study characterizes the responses of primary acute myeloid leukemia (AML) patient samples to the MCL‐1 inhibitor MIK665. The results revealed that monocytic differentiation is associated with MIK665 sensitivity. Conversely, elevated ABCB1 expression is a potential biomarker of resistance to the treatment, which can be overcome by the combination ...Joseph Saad, Rhiannon Newman, Elmira Khabusheva, Sofia Aakko, Eric Durand, Mahesh Tambe, Heikki Kuusanmäki, Alun Parsons, Juho J. Miettinen, Komal Kumar Javarappa, Ezgi June Olgac, Nemo Ikonen, Mika Kontro, Kimmo Porkka, Heiko Maacke, Janghee Woo, Ensar Halilovic, Caroline A. Heckman +17 morewiley +1 more sourceThe association of rs1008832 CACNA1C, rs4027402 SYNE2, rs2340917 TMEM43, rs58225473 CACNB2 with sudden cardiac death
Атеросклероз, 2022 Single nucleotide polymorphisms rs1008832 of the CACNA1C gene, rs4027402 of the SYNE2 gene, rs2340917 of the TMEM43 gene, rs58225473 of the CACNB2 gene were found by sequencing the clinical exome of a group of men who died of sudden cardiac death (SCD ...А. А. Ivanova, E. S. Melnikova, А. А. Gurazheva, A. M. Nesterets, S. K. Malyutina, I. A. Rodina, O. V. Khamovich, V. P. Novoselov, V. N. Maksimov +8 moredoaj +1 more sourceChallenges in identifying cancer genes by analysis of exome sequencing data. [PDF]
, 2016 Massively parallel sequencing has permitted an unprecedented examination of the cancer exome, leading to predictions that all genes important to cancer will soon be identified by genetic analysis of tumours.Bandyopadhyay, Sourav, Carter, Hannah, Friend, Stephen, Hofree, Matan, Ideker, Trey, Kreisberg, Jason F, Mischel, Paul S +6 morecore +1 more sourceEffect of chemotherapy on passenger mutations in metastatic colorectal cancer
Molecular Oncology, EarlyView.Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees +6 morewiley +1 more sourceExome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation
Platelets, 2019 Previous genome-wide association studies (GWAS) have identified several variants associated with platelet function phenotypes; however, the proportion of variance explained by the identified variants is mostly small.Ming-Huei Chen, Lisa R. Yanek, Joshua D. Backman, John D. Eicher, Jennifer E. Huffman, Yoav Ben-Shlomo, Andrew D. Beswick, Laura M. Yerges-Armstrong, Alan R. Shuldiner, Jeffrey R. O’Connell, Rasika A. Mathias, Diane M. Becker, Lewis C. Becker, Joshua P. Lewis, Andrew D. Johnson, Nauder Faraday +15 moredoaj +1 more source
