Results 61 to 70 of about 225,081 (303)

Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer

Molecular Oncology, EarlyView.
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann, Eduardo García‐Galea, Alice O'Farrell, Zak Kinsella, Maxime Meylan, Florent Petitprez, Ingrid Arijs, Tom Venken, Hari Ps, Adrian Lärkeryd, Ian Miller, Janick Selves, Nadja Meindl‐Beinker, Fiorella Ruiz‐Pace, Elena Élez, Raquel Comas‐Navarro, Frank Lincoln, Dirk Fey, Gift Nyamundanda, Aoife Nolan, Joern Lewin, Raquel Perez‐Lopez, Jonathan Briody, Kathleen Bennett, Walter Kolch, David Matallanas, Alexander Kel, Enrique Arenas, Joaquín Arribas, Bart Ghesquière, Josep Tabernero, Julie Meilleroux, Deborah McNamara, Ray McDermott, Marvin Lim, Mary O'Reilly, Brian Bird, Lisa Stack, Lucia Moloney, Patrick Morris, Keith Egan, Maciej Milewski, Lars Scheuer, Joachim Behringer, Georg Bolz, Ramon Salazar, Cristina Santos, Andrea Ruiz, Orla Casey, Verena Murphy, Matthias Ebert, Livio Trusolino, Diether Lambrechts, Anguraj Sadanandam, Catherine Sautès‐Fridman, Jochen Prehn, Paolo Nuciforo, Jacques Fieschi, Florence Monville, Darran O'Connor, Wolf Fridman, Annette Byrne   +61 more
wiley   +1 more source

Exome-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 more
doaj   +1 more source

Polymorphism of the trehalase gene (TREH) in native populations of Siberia

Вавиловский журнал генетики и селекции, 2018
Deficiency of some carbohydrates in the traditional diet of native populations of the Far North contributed to a high population prevalence of inactive variants of genes encoding, for example, amylase (AMY2A gene) and sucrase­isomaltase (SI gene ...
B. A. Malyarchuk, M. V. Derenko
doaj   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Exome sequencing in Parkinson's disease [PDF]

Clinical Genetics, 2011
Bras JM, Singleton AB. Exome sequencing in Parkinson's disease.Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive.
Jose M, Bras, A B, Singleton
openaire   +2 more sources

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas

Вавиловский журнал генетики и селекции, 2018
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body localizing at the bifurcation of carotid artery.
E. N. Lukyanova, A. V. Snezhkina, D. V. Kalinin, A. V. Pokrovsky, A. L. Golovyuk, O. A. Stepanov, E. A. Pudova, G. S. Razmakhaev, M. V. Orlova, A. P. Polyakov, M. V. Kiseleva, A. D. Kaprin, A. V. Kudryavtseva   +12 more
doaj   +1 more source

The 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 more
doaj   +1 more source

Rapid, 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 more
core   +1 more source

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach [PDF]

Journal of Human Genetics, 2015
Whole-exome sequencing (WES) is becoming a standard tool for detecting nucleotide changes, and determining whether WES data can be used for the detection of copy-number variations (CNVs) is of interest. To date, several algorithms have been developed for such analyses, although verification is needed to establish if they fit well for the appropriate ...
Satoko, Miyatake, Eriko, Koshimizu, Atsushi, Fujita, Ryoko, Fukai, Eri, Imagawa, Chihiro, Ohba, Ichiro, Kuki, Megumi, Nukui, Atsushi, Araki, Yoshio, Makita, Tsutomu, Ogata, Mitsuko, Nakashima, Yoshinori, Tsurusaki, Noriko, Miyake, Hirotomo, Saitsu, Naomichi, Matsumoto   +15 more
openaire   +2 more sources