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Статті в журналах з теми "Molecular delineation"

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Автор: Grafiati

Опубліковано: 12 травня 2022

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1

Arini, Pedro David, Sergio Liberczuk, Javier Gustavo Mendieta, Martín Santa María, and Guillermo Claudio Bertrán. "Electrocardiogram Delineation in a Wistar Rat Experimental Model." Computational and Mathematical Methods in Medicine 2018 (2018): 1–10. http://dx.doi.org/10.1155/2018/2185378.

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Background and Objectives. The extensive use of electrocardiogram (ECG) recordings during experimental protocols using small rodents requires an automatic delineation technique in the ECG with high performance. It has been shown that the wavelet transform (WT) based ECG delineator is a suitable tool to delineate electrocardiographic waveforms. The aim of this work is to implement and evaluate the ECG waves delineation in Wistar rats applying WT. We also describe the ECG signal of the Wistar rats giving the characteristics of its spectrum among other useful information. Methods. We evaluated a delineator based on WT in a Wistar rat electrocardiograms database which was annotated manually by experienced observers. Results. The delineation showed an “overall performance” such as sensitivity and a positive predictive value of 99.2% and 83.9% for P-wave, 100% and 99.9% for QRS complex, and 100% and 99.8% for T-wave, respectively. We also compared temporal analysis based ECG delineator with the WT based ECG delineator in RR interval, QRS duration, QT interval, and T-wave peak-to-end duration. The results showed that WT outperforms the temporal delineation technique in all parameters analyzed. Conclusions. Finally, we propose a WT based ECG delineator as a methodology to implement in a wide diversity of experimental ECG analyses using Wistar rats.

2

Lévy, Jonathan, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann, Géraldine Viot, Sandrine Passemard, et al. "Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome." American Journal of Medical Genetics Part A 173, no. 8 (June 1, 2017): 2081–87. http://dx.doi.org/10.1002/ajmg.a.38302.

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3

Letcher, Peter M., Martha J. Powell, James G. Chambers, Joyce E. Longcore, Perry F. Churchill, and Phillip M. Harris. "Ultrastructural and molecular delineation of the Chytridiaceae (Chytridiales)." Canadian Journal of Botany 83, no. 12 (December 2005): 1561–73. http://dx.doi.org/10.1139/b05-115.

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The Chytridiomycota is in need of taxonomic revision, especially the largest order, the Chytridiales. We analyzed 25 isolates in, or allied to, the Chytridium clade of this order. Isolates were selected based on one or more of the following criteria: (i) having a large subunit molecular sequence similar to that of the type of the genus Chytriomyces, (ii) having specific zoospore morphology, and (iii) currently classified as a species in the genus Chytriomyces . We examined ultrastructural characters and partial sequences of large subunit and small subunit rDNA and generated a phylogenetic hypothesis using maximum parsimony and Bayesian analyses. The sequence analyses strongly supported the Chytridiaceae, Phlyctochytrium, and Chytriomyces angularis clades, and each clade had a specific zoospore type. Developmental morphology of the thallus did not mirror the DNA-based phylogeny. Based on the results of phylogenetic analyses of sequences and ultrastructural characters, we emend the Chytridiaceae by including exogenous and polycentric development and define the family on the basis of a single zoospore type. Species identified as being in the genus Chytriomyces occur in several separate, well-supported clades along with species currently classified in seven other genera ( Asterophlyctis , Entophlyctis , Obelidium , Physocladia , Podochytrium , Rhizoclosmatium , and Siphonaria ), indicating that Chytriomyces as currently defined is polyphyletic.

4

Tassano, E., M. G. Alpigiani, A. Calcagno, P. Salvati, L. De Miglio, P. Fiorio, C. Cuoco, and G. Gimelli. "Clinical and molecular delineation of a 16p13.2p13.13 microduplication." European Journal of Medical Genetics 58, no. 3 (March 2015): 194–98. http://dx.doi.org/10.1016/j.ejmg.2014.12.016.

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5

Iida, Shinsuke, and Ryuzo Ueda. "Multistep Tumorigenesis of Multiple Myeloma: Its Molecular Delineation." International Journal of Hematology 77, no. 3 (April 2003): 207–12. http://dx.doi.org/10.1007/bf02983776.

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6

Al-Khalaf, Fawziya A., Adel Ismail, Ashraf T. Soliman, David E. C. Cole, and Tawfeg Ben-Omran. "Neonatal severe hyperparathyroidism: further clinical and molecular delineation." European Journal of Pediatrics 170, no. 5 (October 23, 2010): 625–31. http://dx.doi.org/10.1007/s00431-010-1335-z.

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7

Roquet, Cristina, Llorenç Sáez, Juan José Aldasoro, Alfonso Susanna, María Luisa Alarcón, and Núria Garcia-Jacas. "Natural Delineation, Molecular Phylogeny and Floral Evolution in Campanula." Systematic Botany 33, no. 1 (March 1, 2008): 203–17. http://dx.doi.org/10.1600/036364408783887465.

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8

Koolen, D. A., A. J. Sharp, J. A. Hurst, H. V. Firth, S. J. L. Knight, A. Goldenberg, P. Saugier-Veber, et al. "Clinical and molecular delineation of the 17q21.31 microdeletion syndrome." Journal of Medical Genetics 45, no. 11 (November 1, 2008): 710–20. http://dx.doi.org/10.1136/jmg.2008.058701.

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9

Aqua, Mfon S., Patrizia Rizzu, Elizabeth A. Lindsay, Lisa G. Shaffer, Elaine H. Zackai, Joan Overhauser, and Antonio Baldini. "Duplication 3q syndrome: Molecular delineation of the critical region." American Journal of Medical Genetics 55, no. 1 (January 2, 1995): 33–37. http://dx.doi.org/10.1002/ajmg.1320550111.

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10

Laurell, Tobias, Johanna Lundin, Britt-Marie Anderlid, Jerome L. Gorski, Giedre Grigelioniene, Samantha J. L. Knight, Ana C. V. Krepischi, et al. "Molecular and clinical delineation of the 17q22 microdeletion phenotype." European Journal of Human Genetics 21, no. 10 (January 30, 2013): 1085–92. http://dx.doi.org/10.1038/ejhg.2012.306.

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11

Gannon, Tamsin, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, et al. "Further delineation of the KAT6B molecular and phenotypic spectrum." European Journal of Human Genetics 23, no. 9 (November 26, 2014): 1165–70. http://dx.doi.org/10.1038/ejhg.2014.248.

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12

Schuhmann, Sarah, Heiko Koller, Heinrich Sticht, Cornelia Kraus, Mandy Krumbiegel, Steffen Uebe, Arif B. Ekici, André Reis, and Christian T. Thiel. "Clinical and molecular delineation of spondylocostal dysostosis type 3." Clinical Genetics 99, no. 6 (March 16, 2021): 851–52. http://dx.doi.org/10.1111/cge.13952.

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13

Franco, Aime T., David B. Friedman, Toni A. Nagy, Judith Romero-Gallo, Uma Krishna, Amy Kendall, Dawn A. Israel, Nicole Tegtmeyer, M. Kay Washington, and Richard M. Peek. "Delineation of a CarcinogenicHelicobacter pyloriProteome." Molecular & Cellular Proteomics 8, no. 8 (May 25, 2009): 1947–58. http://dx.doi.org/10.1074/mcp.m900139-mcp200.

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14

Thomson, Sten P., and David B. Williams. "Delineation of the lectin site of the molecular chaperone calreticulin." Cell Stress & Chaperones 10, no. 3 (2005): 242. http://dx.doi.org/10.1379/csc-126.1.

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15

de Vreeze, Ronald S. A., Frits van Coevorden, Lucie Boerrigter, Petra M. Nederlof, Rick L. Haas, Johannes Bras, Andreas Rosenwald, Thomas Mentzel, and Daphne de Jong. "Delineation of Chondroid Lipoma: An Immunohistochemical and Molecular Biological Analysis." Sarcoma 2011 (2011): 1–5. http://dx.doi.org/10.1155/2011/638403.

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Aims. Chondroid lipoma (CL) is a benign tumor that mimics a variety of soft tissue tumors and is characterized by translocationt(11;16). Here, we analyze CL and its histological mimics.Methods. CL (n=4) was compared to a variety of histological mimics (n=83) for morphological aspects and immunohistochemical features including cyclinD1(CCND1). Using FISH analysis,CCND1andFUSwere investigated as potential translocation partners.Results. All CLs were strongly positive forCCND1. One of 4 myoepitheliomas,CCND1, was positive. In well-differentiated lipomatous tumors and in chondrosarcomas,CCND1was frequently expressed, but all myxoid liposarcomas were negative. FISH analysis did not give support for direct involvement ofCCND1andFUSas translocation partners.Conclusions. Chondroid lipoma is extremely rare and has several and more prevalent histological mimics. The differential diagnosis of chondroid lipomas can be unraveled using immunohistochemical and molecular support.

16

Hung, G. C., N. B. Chilton, I. Beveridge, A. McDonnell, J. R. Lichtenfels, and R. B. Gasser. "Molecular delineation of Cylicocyclus nassatus and C. ashworthi (Nematoda: Strongylidae)." International Journal for Parasitology 27, no. 5 (May 1997): 601–5. http://dx.doi.org/10.1016/s0020-7519(96)00192-0.

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17

Mefford, Heather C., Jill A. Rosenfeld, Natasha Shur, Anne M. Slavotinek, Victoria A. Cox, Raoul C. Hennekam, Helen V. Firth, et al. "Further clinical and molecular delineation of the 15q24 microdeletion syndrome." Journal of Medical Genetics 49, no. 2 (December 17, 2011): 110–18. http://dx.doi.org/10.1136/jmedgenet-2011-100499.

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18

Booth, FW, and BS Tseng. "Olympic Goal: Molecular and Cellular Approaches to Understanding Muscle Adaptation." Physiology 8, no. 4 (August 1, 1993): 165–69. http://dx.doi.org/10.1152/physiologyonline.1993.8.4.165.

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Skeletal muscle is a plastic tissue showing adaptations to training that permit more physical work with less fatigue. Delineation of basic mechanisms of these adaptations will allow the development of scientifically based programs of exercise as well as potential new drugs for the maintenance of physical fitness.

19

Hultschig, Claus, Hans-Jürgen Hecht, and Ronald Frank. "Systematic Delineation of a Calmodulin Peptide Interaction." Journal of Molecular Biology 343, no. 3 (October 2004): 559–68. http://dx.doi.org/10.1016/j.jmb.2004.08.012.

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20

Tao, Zhifu, Wenping Zhang, Mudi Yao, Yuanfu Zhong, Yanan Sun, Xiu-Miao Li, Jin Yao, Qin Jiang, Peirong Lu, and Zhenhua Wang. "A Joint Model for Macular Edema Analysis in Optical Coherence Tomography Images Based on Image Enhancement and Segmentation." BioMed Research International 2021 (February 17, 2021): 1–9. http://dx.doi.org/10.1155/2021/6679556.

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Optical coherence tomography (OCT) provides the visualization of macular edema which can assist ophthalmologists in the diagnosis of ocular diseases. Macular edema is a major cause of vision loss in patients with retinal vein occlusion (RVO). However, manual delineation of macular edema is a laborious and time-consuming task. This study proposes a joint model for automatic delineation of macular edema in OCT images. This model consists of two steps: image enhancement using a bioinspired algorithm and macular edema segmentation using a Gaussian-filtering regularized level set (SBGFRLS) algorithm. We then evaluated the delineation efficiency using the following parameters: accuracy, precision, sensitivity, specificity, Dice’s similarity coefficient, IOU, and kappa coefficient. Compared with the traditional level set algorithms, including C-V and GAC, the proposed model had higher efficiency in macular edema delineation as shown by reduced processing time and iteration times. Moreover, the accuracy, precision, sensitivity, specificity, Dice’s similarity coefficient, IOU, and kappa coefficient for macular edema delineation could reach 99.7%, 97.8%, 96.0%, 99.0%, 96.9%, 94.0%, and 96.8%, respectively. More importantly, the proposed model had comparable precision but shorter processing time compared with manual delineation. Collectively, this study provides a novel model for the delineation of macular edema in OCT images, which can assist the ophthalmologists for the screening and diagnosis of retinal diseases.

21

Bacquet, Juliette, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, Brigitte Chabrol, Emmanuelle Salort-Campana, et al. "Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation." BMJ Open 8, no. 10 (October 2018): e021632. http://dx.doi.org/10.1136/bmjopen-2018-021632.

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PurposeInherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. We also describe several novel likely pathogenic variants.Design and participantsWe have completed the targeted NGS of 81 IPN genes in a cohort of 123 unrelated patients affected with diverse forms of IPNs, mostly Charcot-Marie-Tooth disease (CMT): 23% CMT1, 52% CMT2, 9% distal hereditary motor neuropathy, 7% hereditary sensory and autonomic neuropathy and 6.5% intermediate CMT.ResultsWe have solved the molecular diagnosis in 49 of 123 patients (~40%). Among the identified variants, 26 variants were already reported in the literature. In our cohort, the most frequently mutated genes are respectively:MFN2,SH3TC2,GDAP1,NEFL,GAN,KIF5AandAARS. Panel-based NGS was more efficient in familial cases than in sporadic cases (diagnostic yield 49%vs19%, respectively). NGS-based search for copy number variations, allowed the identification of three duplications in three patients and raised the diagnostic yield to 41%. This yield is two times higher than the one obtained previously by gene Sanger sequencing screening. The impact of panel-based NGS screening is particularly important for demyelinating CMT (CMT1) subtypes, for which the success rate reached 87% (36% only for axonal CMT2).ConclusionNGS allowed to identify causal mutations in a shorter and cost-effective time. Actually, targeted NGS is a well-suited strategy for efficient molecular diagnosis of IPNs. However, NGS leads to the identification of numerous variants of unknown significance, which interpretation requires interdisciplinary collaborations between molecular geneticists, clinicians and (neuro)pathologists.

22

Stackebrant, Erko. "Molecular taxonomic parameters." Microbiology Australia 32, no. 2 (2011): 59. http://dx.doi.org/10.1071/ma11059.

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The parameters in place for the circumscription of taxonomic ranks increase with the description of lower ranks; only one or a few, mostly genomic properties, for phyla, classes and orders, while those for families, genera and, above all, for species, are described with increasing complexity, including molecular, chemotaxonomic, morphological and biochemical properties. Even the attempt to list a few examples for species-rich genera or for a phylogenetically diverse range of taxa would go beyond the scope of this communication. Rather, the presently applied molecular approaches for delineation should be revisited here. For a broad overview on the use of the wide spectrum of phenotypic methods recommended today the reader is referred to a recent publication by Tindall et al.

23

Brunetti-Pierri, Nicola, Trilochan Sahoo, Sarah Frioux, Craig Chinault, Roxanne Zascavage, Sau-Wai Cheung, Sarika Peters, and Marwan Shinawi. "15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization." American Journal of Medical Genetics Part A 146A, no. 15 (August 1, 2008): 1933–41. http://dx.doi.org/10.1002/ajmg.a.32324.

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24

Kidd, Mark, Irvin M. Modlin, Shrikant M. Mane, Robert L. Camp, Geeta N. Eick, Igor Latich, and Michelle N. Zikusoka. "Utility of molecular genetic signatures in the delineation of gastric neoplasia." Cancer 106, no. 7 (2006): 1480–88. http://dx.doi.org/10.1002/cncr.21758.

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25

|fLastowska, Maria, Nadine Van Roy, Nick Bown, Frank Speleman, John Lunec, Tom Strachan, Andrew D. J. Pearson, and Michael S. Jackson. "Molecular cytogenetic delineation of 17q translocation breakpoints in neuroblastoma cell lines." Genes, Chromosomes and Cancer 23, no. 2 (October 1998): 116–22. http://dx.doi.org/10.1002/(sici)1098-2264(199810)23:2<116::aid-gcc4>3.0.co;2-5.

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26

CÁRDENAS-AQUINO, MARÍA DEL ROSARIO, NORMA MARINA ALARCÓN-RODRÍGUEZ, MARIO RIVAS-MEDRANO, HÉCTOR GONZÁLEZ-HERNÁNDEZ, MATEO VARGAS-HERNÁNDEZ, HUSSEIN SÁNCHEZ-ARROYO, and CELINA LLANDERAL-CÁZARES. "Molecular delineation of the Agave Red Worm Comadia redtenbacheri (Lepidoptera: Cossidae)." Zootaxa 4375, no. 3 (January 25, 2018): 358. http://dx.doi.org/10.11646/zootaxa.4375.3.4.

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Comadia redtenbacheri (Hammerschmidt) (Agave Red Worm) is the only member of the family Cossidae that has been described as a phytophagous specialist of the plant genus Agave, which is mainly distributed in México. A new extraction protocol adapted from Stewart & Via (1993) has been implemented for sequencing the COI gene from samples collected in five states of the North Central (Querétaro and Zacatecas), South Central (Estado de México) and East Central (Hidalgo and Tlaxcala) regions of México with the purpose of contributing to delineation of the species. A Maximum Likelihood (ML) tree based on these COI sequences as well as COI sequences from other Cossinae species was developed to complement the existing morphological and taxonomic approaches to delineation of this species. As expected, our Comadia samples cluster together within a monophyletic clade that includes four C. redtenbacheri sequences previously reported. This group seems to be consistent with our reconstruction, which is supported by a bootstrap value of over 99%. The closely related branches associated with the latter group include organisms known to be the plant and tree borers of the Cossinae subfamily. The COI sequences from our samples were analyzed to determine the percentage of identity among the C. redtenbacheri in a first attempt to detect differences in the sequence that matches a particular region of México.

27

Kumari, Shesh, Wilfrida Decraemer, Donato Traversa, and Marta Lišková. "Molecular and morphological delineation of Longidorus poessneckensis Altherr, 1974 (Nematoda: Dorylaimida)." European Journal of Plant Pathology 123, no. 2 (July 15, 2008): 125–37. http://dx.doi.org/10.1007/s10658-008-9348-4.

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28

Wu, Ming J., Patricia A. Murphy, Patrick J. O’Doherty, Stephen Mieruszynski, Mark Jones, Cindy Kersaitis, Peter J. Rogers, Trevor D. Bailey, and Vincent J. Higgins. "Delineation of the molecular mechanism for disulfide stress-induced aluminium toxicity." BioMetals 25, no. 3 (March 9, 2012): 553–61. http://dx.doi.org/10.1007/s10534-012-9534-x.

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29

Koudrina, Anna, Celine Chartrand, Greg O. Cron, Jonathan O’Brien, Eve C. Tsai, and Maria C. DeRosa. "Fibrinogen aptamer functionalized gold-coated iron-oxide nanoparticles for targeted imaging of thrombi." Chemical Communications 58, no. 17 (2022): 2870–73. http://dx.doi.org/10.1039/d1cc03817f.

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30

Lu, Haidi, Yuan Yuan, Zhen Zhou, Xiaolu Ma, Fu Shen, Yuwei Xia, and Jianping Lu. "Assessment of MRI-Based Radiomics in Preoperative T Staging of Rectal Cancer: Comparison between Minimum and Maximum Delineation Methods." BioMed Research International 2021 (July 10, 2021): 1–9. http://dx.doi.org/10.1155/2021/5566885.

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The manual delineation of the lesion is mainly used as a conventional segmentation method, but it is subjective and has poor stability and repeatability. The purpose of this study is to validate the effect of a radiomics model based on MRI derived from two delineation methods in the preoperative T staging of patients with rectal cancer (RC). A total of 454 consecutive patients with pathologically confirmed RC who underwent preoperative MRI between January 2018 and December 2019 were retrospectively analyzed. RC patients were grouped according to whether the muscularis propria was penetrated. Two radiologists segmented lesions, respectively, by minimum delineation (Method 1) and maximum delineation (Method 2), after which radiomics features were extracted. Inter- and intraclass correlation coefficient (ICC) of all features was evaluated. After feature reduction, the support vector machine (SVM) was trained to build a prediction model. The diagnostic performances of models were determined by receiver operating characteristic (ROC) curves. Then, the areas under the curve (AUCs) were compared by the DeLong test. Decision curve analysis (DCA) was performed to evaluate clinical benefit. Finally, 317 patients were assessed, including 152 cases in the training set and 165 cases in the validation set. Moreover, 1288/1409 (91.4%) features of Method 1 and 1273/1409 (90.3%) features of Method 2 had good robustness ( P < 0.05 ). The AUCs of Model 1 and Model 2 were 0.808 and 0.903 in the validation set, respectively ( P = 0.035 ). DCA showed that the maximum delineation yielded more net benefit. MRI-based radiomics models derived from two segmentation methods demonstrated good performance in the preoperative T staging of RC. The minimum delineation had better stability in feature selection, while the maximum delineation method was more clinically beneficial.

31

Golubev, W. I., Maudy T. Smith, G. A. Poot, and J. L. F. Kock. "Species delineation in the genus Nadsonia Sydow." Antonie van Leeuwenhoek 55, no. 4 (April 1989): 369–82. http://dx.doi.org/10.1007/bf00398515.

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32

Al-Shehhi, Halima, Ahlam Gabr, Intisar Al-Haddabi, Raquel Tena, Anna Baquero, Watfa Al-Maamari, and Almundher Al-Maawali. "Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report." Oman Medical Journal 34, no. 5 (September 17, 2019): 460–63. http://dx.doi.org/10.5001/omj.2019.83.

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33

Kamiya, Mitsunobu, John A. West, Ulf Karsten, and E. K. Ganesan. "Molecular and morphological delineation of Caloglossa beccarii and related species (Delesseriaceae, Rhodophyta)." Phycologia 55, no. 6 (November 2016): 640–49. http://dx.doi.org/10.2216/16-19.1.

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34

Letcher, Peter M., Martha J. Powell, Perry F. Churchill, and James G. Chambers. "Ultrastructural and molecular phylogenetic delineation of a new order, the Rhizophydiales (Chytridiomycota)." Mycological Research 110, no. 8 (August 2006): 898–915. http://dx.doi.org/10.1016/j.mycres.2006.06.011.

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35

Moi, P., E. Paglietti, A. Sanna, C. Brancati, A. Tagarelli, R. Galanello, A. Cao, and M. Pirastu. "Delineation of the molecular basis of delta- and normal HbA2 beta- thalassemia." Blood 72, no. 2 (August 1, 1988): 530–33. http://dx.doi.org/10.1182/blood.v72.2.530.530.

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Abstract In this study, we used cloning and sequence analysis to define the molecular defect in two delta-thalassemia genes, one associated with reduced output of delta-globin chains (delta +thal) from a Sardinian and the other with a complete suppression of delta-chain production from the affected locus (delta zerp thal) from a Southern Italian. Sequence analysis of the delta +thal gene showed a G----T substitution at the first nucleotide of codon 27 (delta +27) which produces an amino acid change (Ala----Ser) and presumably activates a cryptic splice site located at this position. Therefore, only a fraction of the transcript is processed from this site, as indicated by the clinical phenotype of delta +thal. DNA sequencing of the delta zero thal gene revealed a T---- C substitution at position 1 of IVS-1, which abolishes the splicing at this site and thus leads to complete deficiency of normal mRNA explaining the clinical phenotype of delta zero thal. Oligonucleotide analysis was used to confirm the coinheritance of the delta +27 mutation in a group of Sardinians with thalassemia like phenotype and normal HbA2 level who, on the basis of genetic criteria, were supposed to be double heterozygous for delta-thalassemia and beta-thalassemia. The definition of delta-thalassemia defects in each high-risk area facilitates identification of double heterozygotes for delta- and beta- thalassemia by DNA analysis and may thus improve genetic counseling.

36

Moi, P., E. Paglietti, A. Sanna, C. Brancati, A. Tagarelli, R. Galanello, A. Cao, and M. Pirastu. "Delineation of the molecular basis of delta- and normal HbA2 beta- thalassemia." Blood 72, no. 2 (August 1, 1988): 530–33. http://dx.doi.org/10.1182/blood.v72.2.530.bloodjournal722530.

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In this study, we used cloning and sequence analysis to define the molecular defect in two delta-thalassemia genes, one associated with reduced output of delta-globin chains (delta +thal) from a Sardinian and the other with a complete suppression of delta-chain production from the affected locus (delta zerp thal) from a Southern Italian. Sequence analysis of the delta +thal gene showed a G----T substitution at the first nucleotide of codon 27 (delta +27) which produces an amino acid change (Ala----Ser) and presumably activates a cryptic splice site located at this position. Therefore, only a fraction of the transcript is processed from this site, as indicated by the clinical phenotype of delta +thal. DNA sequencing of the delta zero thal gene revealed a T---- C substitution at position 1 of IVS-1, which abolishes the splicing at this site and thus leads to complete deficiency of normal mRNA explaining the clinical phenotype of delta zero thal. Oligonucleotide analysis was used to confirm the coinheritance of the delta +27 mutation in a group of Sardinians with thalassemia like phenotype and normal HbA2 level who, on the basis of genetic criteria, were supposed to be double heterozygous for delta-thalassemia and beta-thalassemia. The definition of delta-thalassemia defects in each high-risk area facilitates identification of double heterozygotes for delta- and beta- thalassemia by DNA analysis and may thus improve genetic counseling.

37

Alharby, Essa, Eissa A. Faqeih, Mohammed Saleh, Seham Alameer, Makki Almuntashri, Annalisa Pastore, Manar A. Samman, et al. "Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort." Genetics in Medicine 22, no. 12 (August 3, 2020): 2071–80. http://dx.doi.org/10.1038/s41436-020-0919-x.

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38

La Starza, R., I. Wlodarska, A. Aventin, D. Falzetti, B. Crescenzi, M. F. Martelli, H. Van den Berghe, and C. Mecucci. "Molecular Delineation of 13q Deletion Boundaries in 20 Patients With Myeloid Malignancies." Blood 91, no. 1 (January 1, 1998): 231–37. http://dx.doi.org/10.1182/blood.v91.1.231.

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Abstract Fluorescent in situ hybridization (FISH) analysis with a panel of DNA probes for 13q13.1-q14.3 was performed on 20 cases of myeloid malignancies, of which 17 showed a del(13)(q) and three had translocations affecting 13q. By chromosome morphology, deletions consistently involved bands q14 and q21. In addition to confirming the chromosome data, FISH allowed us to delineate a commonly deleted region that was flanked by YAC 833A2 and YAC 854D4. Three cases with 13q translocations unexpectedly showed accompanying cryptic microdeletions of 13q, and in one case the commonly deleted region could be narrowed to a genomic segment, which includes YAC 937C7, RB1, and YAC 745E3. Homozygous deletions were not detected. This region overlaps with the smallest deleted region of 13q14 in chronic lymphocytic leukemia.

39

La Starza, R., I. Wlodarska, A. Aventin, D. Falzetti, B. Crescenzi, M. F. Martelli, H. Van den Berghe, and C. Mecucci. "Molecular Delineation of 13q Deletion Boundaries in 20 Patients With Myeloid Malignancies." Blood 91, no. 1 (January 1, 1998): 231–37. http://dx.doi.org/10.1182/blood.v91.1.231.231_231_237.

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Fluorescent in situ hybridization (FISH) analysis with a panel of DNA probes for 13q13.1-q14.3 was performed on 20 cases of myeloid malignancies, of which 17 showed a del(13)(q) and three had translocations affecting 13q. By chromosome morphology, deletions consistently involved bands q14 and q21. In addition to confirming the chromosome data, FISH allowed us to delineate a commonly deleted region that was flanked by YAC 833A2 and YAC 854D4. Three cases with 13q translocations unexpectedly showed accompanying cryptic microdeletions of 13q, and in one case the commonly deleted region could be narrowed to a genomic segment, which includes YAC 937C7, RB1, and YAC 745E3. Homozygous deletions were not detected. This region overlaps with the smallest deleted region of 13q14 in chronic lymphocytic leukemia.

40

Corcoran, Martin M., Omid Rasool, Yie Liu, Arati Iyengar, Dan Grander, Rachel E. Ibbotson, Mats Merup, et al. "Detailed Molecular Delineation of 13q14.3 Loss in B-Cell Chronic Lymphocytic Leukemia." Blood 91, no. 4 (February 15, 1998): 1382–90. http://dx.doi.org/10.1182/blood.v91.4.1382.

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Abstract A region of chromosome 13q14.3, telomeric to the Retinoblastoma gene RB-1 is frequently deleted in patients with B-cell chronic lymphocytic leukemia (B-CLL). A cosmid and P1-derived artificial chromosome (PAC) contig spanning over 600 kb has been constructed, which encompasses this locus. The contig clones have been used to order a number of markers along the minimally deleted region and to localize a series of CpG islands corresponding to possible candidate genes. A novel polymorphic dinucleotide repeat, 6E3.2, present in one of the ordered cosmid clones has been isolated for use in deletion mapping studies of patient DNA. Leukemic samples from 229 CLL patients have been screened for loss of heterozygosity using microsatellite markers and analyzed for hemizygous and homozygous deletions by Southern blot techniques using genomic probes selected from cosmids across the region. Hemizygous deletions were found in 31% of cases with an additional 10% showing homozygous loss. The use of these probes has defined the commonly deleted area to less than 130 kb, centromeric to the locus D13S272.

41

Gilda, Jennifer E., Xianyin Lai, Frank A. Witzmann, and Aldrin V. Gomes. "Delineation of Molecular Pathways Involved in Cardiomyopathies Caused by Troponin T Mutations." Molecular & Cellular Proteomics 15, no. 6 (March 28, 2016): 1962–81. http://dx.doi.org/10.1074/mcp.m115.057380.

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42

Jaju, Rina J., Jacqueline Boultwood, Fiona J. Oliver, Markus Kostrzewa, Carrie Fidler, Norman Parker, John D. McPherson, et al. "Molecular cytogenetic delineation of the critical deleted region in the 5q− syndrome." Genes, Chromosomes and Cancer 22, no. 3 (July 1998): 251–56. http://dx.doi.org/10.1002/(sici)1098-2264(199807)22:3<251::aid-gcc11>3.0.co;2-r.

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43

Kulikowski, Leslie Domenici, Maisa Yoshimoto, Fernanda Teixeira da Silva Bellucco, Sintia Iole Nogueira Belangero, Denise Maria Christofolini, Ade Nubia Xavier Pacanaro, Adriana Bortolai, Marilia de Arruda Cardoso Smith, Jeremy A. Squire, and Maria Isabel Melaragno. "Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation." European Journal of Medical Genetics 53, no. 6 (November 2010): 404–7. http://dx.doi.org/10.1016/j.ejmg.2010.08.007.

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44

Coleman, Annette W., Arturo Suarez, and Lynda J. Goff. "MOLECULAR DELINEATION OF SPECIES AND SYNGENS IN VOLVOCACEAN GREEN ALGAE (CHLOROPHYTA)1." Journal of Phycology 30, no. 1 (February 1994): 80–90. http://dx.doi.org/10.1111/j.0022-3646.1994.00080.x.

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45

Lou, Ji-Wu, Dong-Zhi Li, Yu Zhang, Yi He, Man-Na Sun, Wan-Ling Ye, and Yan-Hui Liu. "Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals." Blood Cells, Molecules, and Diseases 53, no. 4 (December 2014): 261–64. http://dx.doi.org/10.1016/j.bcmd.2014.04.005.

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46

Mende, Daniel R., Shinichi Sunagawa, Georg Zeller, and Peer Bork. "Accurate and universal delineation of prokaryotic species." Nature Methods 10, no. 9 (July 28, 2013): 881–84. http://dx.doi.org/10.1038/nmeth.2575.

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47

Santarelli, Justin G., Vahé Sarkissian, Lewis C. Hou, Anand Veeravagu, and Victor Tse. "Molecular events of brain metastasis." Neurosurgical Focus 22, no. 3 (March 2007): 1–5. http://dx.doi.org/10.3171/foc.2007.22.3.2.

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✓The brain is a privileged site of systemic cancer metastasis. The stages of the metastatic journey from the periphery to the brain are driven by molecular events that tie the original site of disease to the distant host tissue. This preference is not arbitrary but rather a directed phenomenon that includes such critical steps as angiogenesis and the preparation of the premetastatic niche. It appears that the connection between naïve brain and cancer cells is made in advance of any metastatic breach of the blood–brain barrier. This contributes to the preferential homing of cancer cells to the brain. Delineation of the guidance mechanisms and elements that influence cancer cell motility and dormancy are important for the advancement of treatment modalities aimed at the remediation of this devastating disease.

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Liu, Yingting, and Ravi Radhakrishnan. "Computational delineation of tyrosyl-substrate recognition and catalytic landscapes by the epidermal growth factor receptor tyrosine kinase domain." Mol. BioSyst. 10, no. 7 (2014): 1890–904. http://dx.doi.org/10.1039/c3mb70620f.

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49

Grégoire, Vincent, Johannes A. Langendijk, and Sandra Nuyts. "Advances in Radiotherapy for Head and Neck Cancer." Journal of Clinical Oncology 33, no. 29 (October 10, 2015): 3277–84. http://dx.doi.org/10.1200/jco.2015.61.2994.

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Over the last few decades, significant improvements have been made in the radiotherapy (RT) treatment of head and neck malignancies. The progressive introduction of intensity-modulated RT and the use of multimodality imaging for target volume and organs at risk delineation, together with the use of altered fractionation regimens and concomitant administration of chemotherapy or targeted agents, have accompanied efficacy improvements in RT. Altogether, such improvements have translated into improvement in locoregional control and overall survival probability, with a decrease in the long-term adverse effects of RT and an improvement in quality of life. Further progress in the treatment of head and neck malignancies may come from a better integration of molecular imaging to identify tumor subvolumes that may require additional radiation doses (ie, dose painting) and from treatment adaptation tracing changes in patient anatomy during treatment. Proton therapy generates even more exquisite dose distribution in some patients, thus potentially further improving patient outcomes. However, the clinical benefit of these approaches, although promising, for patients with head and neck cancer need to be demonstrated in prospective randomized studies. In this context, our article will review some of these advances, with special emphasis on target volume and organ-at-risk delineation, use of molecular imaging for tumor delineation, dose painting for dose escalation, dose adaptation throughout treatment, and potential benefit of proton therapy.

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Raschke, F., T. L. Jones, T. R. Barrick, and F. A. Howe. "Delineation of gliomas using radial metabolite indexing." NMR in Biomedicine 27, no. 9 (July 7, 2014): 1053–62. http://dx.doi.org/10.1002/nbm.3154.

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