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961por Kangatharan, Chrishthuka, Ling, Victor, Richardson, Michelle, Bashir, Sheraz, King, Joanne, Siddique, Hafsana, Selvaraj, Kirubah, Chalmers, Isobel, Hodson, Andrew, Prahladan, MaheshEnlace del recurso
Publicado 2023
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962por Ibrahim, Doaa M. A., Ali, Ola S. M., Nasr, Hala, Fateen, Ekram, AbdelAleem, Alice“…Interestingly, the three recurrent TSD associated mutations were clustered on chromosome 13 and accounted for 38% of the HEXA mutations detected in this study. …”
Publicado 2023
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963por Pan, Xingxin, Coban Akdemir, Zeynep H, Gao, Ruixuan, Jiang, Xiaoqian, Sheynkman, Gloria M, Wu, Erxi, Huang, Jason H, Sahni, Nidhi, Yi, S Stephen“…There is a lack of comprehensive research aimed to identify AD-associated risk mutations systematically. To address this challenge, we hereby construct a large-scale AD mutation and co-mutation framework (‘AD-Syn-Net’), and propose deep learning models named Deep-SMCI and Deep-CMCI configured with fully connected layers that are capable of predicting cognitive impairment of subjects effectively based on genetic mutation and co-mutation profiles. …”
Publicado 2023
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964por Striker, Shawn S., Wilferd, Sierra F., Lewis, Erika M., O'Connor, Samantha A., Plaisier, Christopher L.“…Somatic mutations occur as random genetic changes in genes through protein-affecting mutations (PAMs), gene fusions, or copy number alterations (CNAs). …”
Publicado 2023
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965por Maslah, Nabih, Benajiba, Lina, Giraudier, Stephane, Kiladjian, Jean-Jacques, Cassinat, Bruno“…Myeloproliferative neoplasms are characterized by the acquisition at the hematopoietic stem cell level of driver mutations targeting the JAK/STAT pathway. In addition, they also often exhibit additional mutations targeting various pathways such as intracellular signalling, epigenetics, mRNA splicing or transcription. …”
Publicado 2023
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966por Gong, Dai, Tang, Qiong, Yan, Li-Juan, Ye, Xiao-Min, Yang, Yi-Can, Zou, Li, Ji, Qing, Wen, Xiang-Lan“…CASE DESCRIPTION: We present a case summary of the clinical data and treatment process of a child with PCD and short stature induced by Novel exon 1 of CCNO mutation (NM-021147.5) at c.323del, and the proband father and mother were heterozygous mutators, who was diagnosed and treated in the Pediatric Healthcare Department of our hospital. …”
Publicado 2023
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967por Nouhin, Janin, Tzou, Philip L., Rhee, Soo-Yon, Sahoo, Malaya K., Pinsky, Benjamin A., Krupkin, Miri, Puglisi, Joseph D., Puglisi, Elisabetta V., Shafer, Robert W.“…We therefore sought to identify co-evolutionary changes between the 5’-leader and RT in viruses developing RT-inhibitor resistance mutations. METHODS: We sequenced 5’-leader positions 37–356 of paired plasma virus samples from 29 individuals developing the NRTI-resistance mutation M184V, 19 developing an NNRTI-resistance mutation, and 32 untreated controls. 5’-leader variants were defined as positions where ≥20% of NGS reads differed from the HXB2 sequence. …”
Publicado 2023
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968por Xu, Xinyun, Hu, Xinge, Ma, Guodong, Wang, Tiannan, Wu, Jayne, Zhu, Xiaojuan, Chen, Guoxun, Zhao, Ling, Chen, Jiangang“…Based on tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), we developed a method to quickly genotype Zucker rats with a mutated fa allele from their wildtype littermates. …”
Publicado 2023
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969por Lempens, Pauline, Van Deun, Armand, Aung, Kya J. M., Hossain, Mohammad A., Behruznia, Mahboobeh, Decroo, Tom, Rigouts, Leen, de Jong, Bouke C., Meehan, Conor J.“…So-called borderline rpoB mutations confer low-level resistance, in contrast to more common rpoB mutations which confer high-level resistance. …”
Publicado 2023
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970“…An OMIM search with the term “AI” yielded 79 result entries. Mutations in the same gene cause syndromic or non-syndromic AI, depending on the nature of the mutations. …”
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971por Marchi, Giovanni, Rajavuori, Anna, Nguyen, Mai T.N., Huhtinen, Kaisa, Oksa, Sinikka, Hietanen, Sakari, Hautaniemi, Sampsa, Hynninen, Johanna, Oikkonen, Jaana“…We also searched for novel mutations appearing at relapse. RESULTS: The concordance rate between mutations in plasma compared to tumor tissue was 83 % at diagnosis and 90 % at relapse. …”
Publicado 2023
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972por Locke, Imogen, Kote-Jarai, Zsofia, Jo Fackler, Mary, Bancroft, Elizabeth, Osin, Peter, Nerurkar, Ashutosh, Izatt, Louise, Pichert, Gabriella, Gui, Gerald PH, Eeles, Rosalind A“…INTRODUCTION: Female germline BRCA gene mutation carriers are at increased risk for developing breast cancer. …”
Publicado 2007
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973por Kumar, R A, Leach, S, Bonaguro, R, Chen, J, Yokom, D W, Abrahams, B S, Seaver, L, Schwartz, C E, Dobyns, W, Brooks-Wilson, A, Simpson, E M“…We then genotyped the candidate mutations in 325 unrelated control subjects and 15 relatives. …”
Publicado 2007
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974por Gronwald, J, Cybulski, C, Piesiak, W, Suchy, J, Huzarski, T, Byrski, T, Gorski, B, Debniak, T, Szwiec, M, Wokolowczyk, D, Matuszewski, M, Sun, P, Lubinski, J, Narod, S A“…We wished to establish the relationship between family history, mutation type and cancer risk in families with a CHEK2 mutation. …”
Publicado 2009
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975“…We exploited this direct selection for mutation to study the frequency at which spontaneous mutations arise (transitions and transversions, insertions and deletions). …”
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976por Tamboom, Kristiina, Kaasik, Krista, Aršavskaja, Jelena, Tekkel, Mare, Lilleorg, Aili, Padrik, Peeter, Metspalu, Andres, Veidebaum, Toomas“…RESULTS: We identified three clinically important mutations in the BRCA1 gene, including seven occurrences of the c.5382insC mutation, three of c.4154delA, and one instance of c.3881_3882delGA. …”
Publicado 2010
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977por Kusters, D. M., Huijgen, R., Defesche, J. C., Vissers, M. N., Kindt, I., Hutten, B. A., Kastelein, J. J. P.“…CONCLUSIONS: Phenotypes with regard to LDL-C levels varied between the 12 most prevalent FH mutations. For most of these mutations, a founder effect was observed. …”
Publicado 2011
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978por Sjödahl, Gottfrid, Lauss, Martin, Gudjonsson, Sigurdur, Liedberg, Fredrik, Halldén, Christer, Chebil, Gunilla, Månsson, Wiking, Höglund, Mattias, Lindgren, David“…BACKGROUND: Urothelial carcinoma (UC) is characterized by frequent gene mutations of which activating mutations in FGFR3 are the most frequent. …”
Publicado 2011
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979por Ahmad, Imran, Singh, Lukram Babloo, Foth, Mona, Morris, Carol-Ann, Taketo, Makoto Mark, Wu, Xue-Ru, Leung, Hing Y., Sansom, Owen J., Iwata, Tomoko“…The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). …”
Publicado 2011
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980por Francou, Bruno, Bouligand, Jérôme, Voican, Adela, Amazit, Larbi, Trabado, Séverine, Fagart, Jérôme, Meduri, Geri, Brailly-Tabard, Sylvie, Chanson, Philippe, Lecomte, Pierre, Guiochon-Mantel, Anne, Young, Jacques“…OBJECTIVE: To evaluate the prevalence of TAC3/TACR3 mutations, characterize novel TACR3 mutations and to analyze neuroendocrine profiles in nCHH caused by deleterious TAC3/TACR3 biallelic mutations. …”
Publicado 2011
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