Results 61 to 70 of about 12,735 (119)

Exome-Wide Meta-Analysis Identifies Rare 3′-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea

Frontiers in Genetics, 2017
Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality.
Ashley van der Spek, Annemarie I. Luik, Desana Kocevska, Chunyu Liu, Chunyu Liu, Chunyu Liu, Rutger W. W. Brouwer, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Mirjam C. G. N. van den Hout, Robert Kraaij, Robert Kraaij, Robert Kraaij, Albert Hofman, Albert Hofman, André G. Uitterlinden, André G. Uitterlinden, André G. Uitterlinden, Wilfred F. J. van IJcken, Daniel J. Gottlieb, Daniel J. Gottlieb, Daniel J. Gottlieb, Henning Tiemeier, Henning Tiemeier, Cornelia M. van Duijn, Najaf Amin   +26 more
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Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

EMBO Molecular Medicine, 2015
Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL ...
Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri   +19 more
doaj   +1 more source

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Applied & Translational Genomics, 2015
Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a given patient, while avoiding false negative and false positive results.
Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sebastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc   +8 more
openaire   +2 more sources

An Effort to Use Human-Based Exome Capture Methods to Analyze Chimpanzee and Macaque Exomes

PLoS ONE, 2012
Non-human primates have emerged as an important resource for the study of human disease and evolution. The characterization of genomic variation between and within non-human primate species could advance the development of genetically defined non-human primate disease models.
Jin, Xin, He, Mingze, Ferguson, Betsy, Meng, Yuhuan, Ouyang, Limei, Ren, Jingjing, Mailund, Thomas, Sun, Fei, Sun, Liangdan, Shen, Juan, Zhuo, Min, Song, Li, Wang, Jufang, Ling, Fei, Zhu, Yuqi, Hvilsom, Christina, Siegismund, Hans Redlef, Liu, Xiaoming, Gong, Zhuolin, Ji, Fang, Wang, Xinzhong, Liu, Boqing, Zhang, Yu, Hou, Jianguo, Wang, Jing, Zhao, Hua, Wang, Yanyi, Fang, Xiaodong, Zhang, Guojie, Wang, Jian, Zhang, Xuejun, Schierup, Mikkel H., Du, Hongli, Wang, Jun, Wang, Xiaoning   +34 more
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Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

Animal Models and Experimental Medicine
Background Constitutional mismatch repair deficiency (CMMRD) is a rare disorder resulting from biallelic germline pathogenic variants in mismatch repair genes.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio deOliveira Garcia, Murilo Bonatelli, Flávia Escremim dePaula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi daSilva, André Escremim dePaula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
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Constitutional DNA Polymorphisms Associated with the Plasma Imatinib Concentration in Chronic Myeloid Leukemia Patients

Pharmaceutics
The tyrosine kinase Inhibitor (TKI) imatinib is approved for the treatment of the chronic phase of chronic myeloid leukemia (CP-CML). Pharmacokinetic studies have highlighted the importance of inter-patient variability on imatinib plasma trough ...
Heriberto Bruzzoni-Giovanelli, Habib Zouali, Mourad Sahbatou, Benjamin Maneglier, Jean-Michel Cayuela, Angelita Rebollo, Gustavo H. Marin, Daniela Geromin, Carole Tomczak, Antonio Alberdi, Jean-Francois Deleuze, Philippe Rousselot   +11 more
doaj   +1 more source

Exome Sequencing: Current and Future Perspectives

G3 Genes|Genomes|Genetics, 2015
The falling cost of DNA sequencing has made the technology af fordable to many research groups, enabling researchers to link genomic variants to observed phenotypes in a range of species. This review focusses on whole exome sequencing and its applications in humans and other species.
Warr, Amanda, Robert, Christelle, Hume, David, Archibald, Alan, Deeb, Nader, Watson, Mick   +5 more
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Interim results of selective screening using whole exome sequencing in newborns

Acta Biomedica Scientifica
Background. Evaluation of hereditary diseases is a difficult task due to the large number of nosologic forms, rare occurrence of each disease, which can lead to a long diagnostic search for the patient.
G. P. Bogonosova, O. V. Bugun, S. V. Ionushene, T. A. Astakhova, I. M. Golobkova, A. A. Dokshukina, Je. Shubina, T. A. Bairova, D. N. Degtyarev, D. Yu. Trofimov, L. V. Rychkova, N. N. Martynovich, O. G. Ivanova, M. I. Kononenko, V. O. Kolodina, N. N. Kuznetsova, M. R. Akhmedzyanova   +16 more
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Genetic Variants Associated with Hypertension Risk: Progress and Implications

Pulse
Background: Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary hypertension have utilised common and latterly rare genetic variants in attempts to elucidate the genetic
David Curtis
doaj   +1 more source

Exome Sequencing in Every Pregnancy? Results of Trio Exome Sequencing in Structurally Normal Fetuses

Obstetrical & Gynecological Survey
(Abstracted from Prenat Diagn 2025;45:276–286) Prenatal exome sequencing (pES) is a genetic test that can identify single-nucleotide variants and other small mutations not detected by chromosomal microarray analysis (CMA). Diagnostic accuracy and turnaround time improve with trio analysis, which compares exome sequences from the mother ...
Michal Levy, Shira Lifshitz, Mirela Goldenberg‐Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat   +9 more
openaire   +2 more sources