Relevant bibliographies by topics / Missense mutations

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Missense mutations'

Author: Grafiati
Published: 4 June 2021
Last updated: 24 July 2025

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Journal articles on the topic "Missense mutations"

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Hyodo, Toshiki, Nobuyuki Kuribayashi, Chonji Fukumoto, et al. "Abstract 4649: Proposal of the concept of “p53 mutational spectrum”: Its clinical implication in oral squamous cell carcinoma." Cancer Research 85, no. 8_Supplement_1 (2025): 4649. https://doi.org/10.1158/1538-7445.am2025-4649.

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Abstract The p53 gene is the most frequently mutated gene in malignant tumors. We found that p53 abnormalities were observed in most cases of oral squamous cell carcinoma (OSCC). Therefore, it is necessary to search for type of the functional abnormality (complete loss of function, partial loss of function, or gain of oncogenic function) of the p53 gene rather than the presence or absence of gene mutation. Here we would like to propose the concept “p53 mutational spectrum”. In this study we performed whole-exome sequencing of p53 using clinical specimens from OSCC and attempted to clarify the
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Kim, Youn Jung, Se-Young Gu, Wonseon Chae, Seon Hee Kim, and Jung-Wook Kim. "Critical Considerations in Calling Disease-Causing EDAR Mutations in Nonsyndromic Oligodontia." Journal of Clinical Medicine 13, no. 23 (2024): 7328. https://doi.org/10.3390/jcm13237328.

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Background/Objectives: Oligodontia, the absence of six or more teeth excluding third molars, is a rare genetic condition, unlike hypodontia (missing one or more teeth), which is a relatively common human disease. Methods: To identify the genetic etiology of nonsyndromic oligodontia (NSO) families, we performed mutational analysis and investigated the functional effects of identified EDAR mutations. Whole-exome sequencing was conducted on recruited families with NSO. Bioinformatic analysis identified mutations in oligodontia-causing candidate genes, which were confirmed by Sanger sequencing and
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Captur, Gabriella, Eloisa Arbustini, Petros Syrris, et al. "Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature." Open Heart 5, no. 2 (2018): e000915. http://dx.doi.org/10.1136/openhrt-2018-000915.

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ObjectiveTwo LMNA genotype–phenotype cardiac correlations are reported: first, that cardiac involvement in multisystem laminopathies prevails with mutations upstream of the nuclear localisation signal (NLS); second, that worse outcomes occur with non-missense (compared with missense) mutations. We tested whether LMNA mutation DNA location and mutation subtype can predict phenotype severity in patients with lamin heart disease.MethodsWe used a semantic workflow platform and manual electronic literature search to identify published LMNA mutations with cardiac-predominant phenotype. Hierarchical
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Prophet, Malshundria, Kun Xiao, Theodore Stewart Gourdin, et al. "Detection of actionable BRAF missense mutations by ctDNA-based genomic analysis in prostate cancer." Journal of Clinical Oncology 36, no. 6_suppl (2018): 306. http://dx.doi.org/10.1200/jco.2018.36.6_suppl.306.

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306 Background: Activating BRAF fusion proteins are rare in prostate cancer (PCa) patients. Driver missense BRAF mutations have not been reported in detail in this population. Methods: We examined ctDNA-derived genomic profiles (Guardant 360) from 2,721 unique PCa patients, to identify BRAF genomic anomalies (SNVs, amplification). The ctDNA results were compared with PCa tissue-based genomics from the TCGA database (1,851 unique patients). Results: BRAF missense mutations were found in 76 ctDNA patients (2.8%) and were from all known mutation classes (I, II, III) as well as variants of unknown
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Zhang, Edward D., Meixia Zhang, Gen Li, et al. "Mutation spectrum in GNAQ and GNA11 in Chinese uveal melanoma." Precision Clinical Medicine 2, no. 4 (2019): 213–20. http://dx.doi.org/10.1093/pcmedi/pbz021.

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Abstract Uveal melanoma is the most common intraocular cancer in the adult eye. R183 and Q209 were found to be mutational hotspots in exon 4 and exon 5 of GNAQ and GNA11 in Caucasians. However, only a few studies have reported somatic mutations in GNAQ or GNA11 in uveal melanoma in Chinese. We extracted somatic DNA from paraffin-embedded biopsies of 63 Chinese uveal melanoma samples and sequenced the entire coding regions of exons 4 and 5 in GNAQ and GNA11. The results showed that 33% of Chinese uveal melanoma samples carried Q209 mutations while none had R183 mutation in GNAQ or GNA11. In add
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Yazaki, Shu, Xin Pei, Simon N. Powell, Atif J. Khan, Jeremy Setton, and Nadeem Riaz. "Clinical utility of AlphaMissense in predicting pathogenicity of DNA damage repair genes in cancer." Journal of Clinical Oncology 42, no. 16_suppl (2024): 10581. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.10581.

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10581 Background: Deficiencies in DNA damage repair (DDR) impact cancer predisposition and various treatment responses.Functional implications of missense variants in DDR genes remain elusive.AlphaMissense, a new AI-based method, accurately predicts the pathogenicity of missense variants, but its clinical utility requires validation. We evaluated the accuracy of AlphaMissense predictions by analyzing known mutational signatures, genomic characteristics, and therapeutic vulnerabilities of DDR-deficient tumors. Methods: We analyzed data from TCGA (n=8,178) and MSK-IMPACT targeted panel sequencin
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Kim, Soo-Hyun, Soo Young Choi, Sung-Eun Lee, et al. "Kinetics Of Low-Level Mutant Clones Detected By Subcloning and Sequencing In Tyrosine Kinase Inhibitor Resistant CML." Blood 122, no. 21 (2013): 2720. http://dx.doi.org/10.1182/blood.v122.21.2720.2720.

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Abstract Background BCR-ABL1 kinase domain (KD) point mutation causes resistance to tyrosine kinase inhibitors (TKI) in chronic myeloid leukemia (CML) patients through impaired binding of TKI to the target site. Recent studies have reported that multiple mutations detected in 2-9% of patients with imatinib (IM)-resistant CML were associated with poor response rate and survival outcomes. However, biological characteristics and dynamics of multiple low-level mutations are still not assessed with a quantitative serial follow-up data in the same populations. Aims The aim of this study was to inves
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Shih, Lee-Yung, Der-Cherng Liang, Chein-Fuang Huang, et al. "Different Patterns of AML1 Mutations between De Novo Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia." Blood 110, no. 11 (2007): 2442. http://dx.doi.org/10.1182/blood.v110.11.2442.2442.

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Abstract Background: Transcription factor AML1/RUNX1 is essential for normal hematopoiesis. AML1 mutations have been described in radiation-associated and therapy-related myelodysplastic syndrome (MDS) and have rarely been reported in patients with chronic myelomonocytic leukemia (CMML). Aims: We sought (1) to define the frequencies of AML1 mutations in de novo MDS and CMML, and (2) to compare the difference in mutation patterns between the two disorders. Methods: AML1 mutations were examined on bone marrow samples obtained at initial diagnosis from 107 patients with de novo MDS (12 RCMD, 45 R
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Boettcher, Steffen, Peter G. Miller, Rohan Sharma, et al. "A dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies." Science 365, no. 6453 (2019): 599–604. http://dx.doi.org/10.1126/science.aax3649.

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TP53, which encodes the tumor suppressor p53, is the most frequently mutated gene in human cancer. The selective pressures shaping its mutational spectrum, dominated by missense mutations, are enigmatic, and neomorphic gain-of-function (GOF) activities have been implicated. We used CRISPR-Cas9 to generate isogenic human leukemia cell lines of the most common TP53 missense mutations. Functional, DNA-binding, and transcriptional analyses revealed loss of function but no GOF effects. Comprehensive mutational scanning of p53 single–amino acid variants demonstrated that missense variants in the DNA
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Caspi, Michal, Frédéric M. Coquelle, Cynthia Koifman, et al. "LIS1 Missense Mutations." Journal of Biological Chemistry 278, no. 40 (2003): 38740–48. http://dx.doi.org/10.1074/jbc.m301147200.

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Dissertations / Theses on the topic "Missense mutations"

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Ibrahim, Daniel Murad. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://dx.doi.org/10.18452/17102.

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Mutationen von Transkriptionsfaktoren (TF) betreffen nicht nur die Funktion des TFs, sondern auch die Expression seiner Zielgene und liegen häufig angeborenen Entwicklungsdefekten zugrunde. Über 20 Mutationen in HOXD13, einem TF der die Entwicklung der Extremitäten kontrolliert, sind bisher als Ursache verschiedenartiger Extremitätenfehlbildungen entdeckt worden. Eine molekularbiologische Grundlage für die Vielgestaltigkeit der HOXD13-Mutationen ist jedoch unbekannt. Die bisherigen Methoden zur funktionellen Charakterisierung von TF-Mutationen ermöglichten eine lediglich eingeschränkte Inte
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Zerey, Marc. "Functional analysis of human MLH1 missense mutations using Saccharomyces cerevisiae." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=79210.

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Hereditary nonpolyposis colorectal carcinoma (HNPCC) is linked to inherited defects in human genes (hMLH1, hMSH2, hMSH6, hPMS1, and hPMS2) that are involved in the repair of mismatched bases that may occur during DNA replication. Germline missense mutations in human MLH1 (hMLH1) are frequently detected and their functional characterization is critical to the development of genetic testing for HNPCC. We used several functional assays to characterize two hMLH1 mutations: T117M and R182G. Saccharomyces cerevisiae were transformed with hMLH1 cDNA expression vectors containing either mutatio
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Maxwell, Megan Amanda, and n/a. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Griffith University. School of Biomolecular and Biomedical Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040219.100649.

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The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab
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Maxwell, Megan Amanda. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Thesis, Griffith University, 2004. http://hdl.handle.net/10072/366184.

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The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab
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岡田, 浩美, H. Okada, T. Yamazaki, et al. "In vitro characterization of missense mutations associated with quantitative protein Sdeficiency." Thesis, Schattauer, 2006. http://hdl.handle.net/2237/11695.

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名古屋大学博士学位論文 学位の種類:博士（医療技術学）（課程）学位授与年月日:平成19年3月23日<br>"In vitro characterization of missense mutations associated with quantitative protein Sdeficiency" Schattauer, v.4, iss.9, pp.2003-2009を、博士論文として提出したもの。
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Drozdova, Tetyana. "Nephrin missense mutations altez cellular trafficking and induce endoplasmic retioulum stress." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=106541.

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Nephrin, a key component of the filtration slit diaphragm, undergoes post-translational modifications in the endoplasmic reticulum (ER). Mutations in nephrin lead to proteinuria. We examined the effects of missense mutations in nephrin on protein folding in the ER, cellular trafficking, and induction of the unfolded protein response (UPR). Wild type (WT) nephrin and the I171N, G270C, S366R, S724C and R743C mutant cDNAs were expressed in 293T cells or glomerular epithelial cells (GECs) by transient transfection. Association of nephrin with the ER chaperone, calnexin, was studied by co-immunopre
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Ibrahim, Daniel Murad [Verfasser], Stefan [Akademischer Betreuer] Mundlos, and Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann." Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://d-nb.info/1065301065/34.

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Ibrahim, Daniel [Verfasser], Stefan [Akademischer Betreuer] Mundlos, and Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann." Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://nbn-resolving.de/urn:nbn:de:kobv:11-100225655.

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Hasselbacher, Katrin. "Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders /." Erlangen, 2008. http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000252715.

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Sabbagh, Yves. "Impact of disease-causing missense mutations on the structure and function of PHEX." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=38517.

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X-linked hypophosphatemia (XLH), the most prevalent form of inherited rickets in humans, is caused by mutations in the PHEX gene, which encodes a protein with high homology to the M13 family of type-II integral membrane zinc metallopeptidases. We created an online mutation database, PHEXdb (http://data.mch.mcgill.ca/phexdb), to catalogue PHEX mutations identified in XLH patients, and found that missense mutations account for 22% of the 157 mutations reported to date. We also undertook to examine the effects of eight missense mutations (C85R, D237G, Y317F, G579R, G579V, S711R, A720T, and F731Y)
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Books on the topic "Missense mutations"

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Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its
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Burghes, Arthur H. M., and Vicki L. McGovern. Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0034.

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Spinal muscular atrophies affect the lower motor neuron. The most common SMA maps to 5q is an autosomal recessive disorder. SMA is caused by loss or mutation of the SMN1 gene and retention of the SMN2 gene, and these genes lie in a complex area of the genome. Mild missense alleles of SMN1 work to complement SMN2 to give function and therapeutics that restore SMN levels are in clinical testing. Modifiers that lie outside the SMN gene locus and influence severity clearly exist, but what they are remains unknown as do the critical genes affected by SMN deficiency.
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Book chapters on the topic "Missense mutations"

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Guziewicz, Karina E., Gustavo D. Aguirre, and Barbara Zangerl. "Modeling the Structural Consequences of BEST1 Missense Mutations." In Retinal Degenerative Diseases. Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_78.

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Sun, Haiyang, Zhenyu Yue, Le Zhao, Junfeng Xia, Yannan Bin, and Di Zhang. "Computational Prediction of Driver Missense Mutations in Melanoma." In Intelligent Computing Theories and Application. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95933-7_53.

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Sahara, Naruhiko, Takami Tomiyama, and Hiroshi Mori. "Rearrangement of microtubule networks by tau bearing missense mutations." In Neuroscientific Basis of Dementia. Birkhäuser Basel, 2001. http://dx.doi.org/10.1007/978-3-0348-8225-5_13.

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Ozturk, Kivilcim, and Hannah Carter. "Identifying Driver Interfaces Enriched for Somatic Missense Mutations in Tumors." In Methods in Molecular Biology. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8967-6_4.

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Zhang, Xiyu, Ruoqing Xu, Yannan Bin, and Zhenyu Yue. "Distinguishing Driver Missense Mutations from Benign Polymorphisms in Breast Cancer." In Intelligent Computing Theories and Application. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-26969-2_28.

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Carter, Hannah, and Rachel Karchin. "Predicting the Functional Consequences of Somatic Missense Mutations Found in Tumors." In Gene Function Analysis. Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-721-1_8.

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Thow, Graham, and Robert J. Spreitzer. "Missense Mutations in the Chloroplast rbcL Gene That Affect Rubisco Holoenzyme Assembly." In Research in Photosynthesis. Springer Netherlands, 1992. http://dx.doi.org/10.1007/978-94-009-0383-8_137.

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McLean, P. J., S. Ribich, and B. T. Hyman. "Subcellular localization of α-synuclein in primary neuronal cultures: effect of missense mutations." In Advances in Research on Neurodegeneration. Springer Vienna, 2000. http://dx.doi.org/10.1007/978-3-7091-6284-2_5.

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Li, Xijian, Ying Huang, Runxuan Tang, et al. "PmmNDD: Predicting the Pathogenicity of Missense Mutations in Neurodegenerative Diseases via Ensemble Learning." In Bioinformatics Research and Applications. Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-97-5087-0_6.

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Faraggi, Eshel, Robert L. Jernigan, and Andrzej Kloczkowski. "Machine Learning-Based Tool for Efficient Discrimination Between Deleterious and Neutral Missense Mutations." In Lecture Notes in Computer Science. Springer Nature Switzerland, 2025. https://doi.org/10.1007/978-3-031-81596-6_25.

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Conference papers on the topic "Missense mutations"

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Lei, Xue, Boshen Wang, Alan Perez-Rathke, et al. "Predicting Oncogenic Missense Mutations." In 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI). IEEE, 2019. http://dx.doi.org/10.1109/bhi.2019.8834553.

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Martelotto, Luciano G., Yan Zhang, Charlotte K. Y. Ng, Salvatore Piscuoglio, Jorge S. Reis-Filho, and Britta Weigelt. "Abstract 4258: Benchmarking algorithms for mutation impact prediction using functionally validated missense mutations." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-4258.

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Lee, Peter C. W. "Abstract 3542: Missense mutations in USE1 promote lung tumorigenesis." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-3542.

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Souza, Karine Terra de, Glauber Monteiro Dias, and Jorge Hernandez Fernandez. "In silico study of the impact of the PRKAG2-H401Q mutation on AMPK affinity for AMP and ATP." In Simpósio Brasileiro de Bioinformática. Sociedade Brasileira de Computação, 2024. https://doi.org/10.5753/bsb.2024.245548.

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Mutations in the PRKAG2 gene, which encodes the γ2 subunit of AMP-activated protein kinase (AMPK), are linked to a rare cardiomyopathy involving glycogen accumulation, left ventricular hypertrophy, and sudden death. This study investigates a novel His401Gln missense mutation in the PRKAG2 gene and its effects on AMPK γ2 subunit dynamics. Through molecular simulations and free energy analyses, we compared AMP and ATP binding affinities between the wild-type and mutant γ2 subunits. Structural modeling and simulations revealed a significant change in ATP binding at site 3 in the mutant AMPK, sugg
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Kelemen, Linda E., James D. Brenton, David D. Bowtell, and Brooke L. Fridley. "Abstract A14: TP53 missense mutations associate with different metabolic pathways." In Abstracts: AACR Special Conference: Addressing Critical Questions in Ovarian Cancer Research and Treatment; October 1-4, 2017; Pittsburgh, PA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1557-3265.ovca17-a14.

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Ye, Bowei, Boshen Wang, and Jie Liang. "Predicting Pathology of Missense Mutations through Protein-Specific Evolutionary Pattern." In 2023 45th Annual International Conference of the IEEE Engineering in Medicine & Biology Society (EMBC). IEEE, 2023. http://dx.doi.org/10.1109/embc40787.2023.10339993.

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Cambraia, Amanda, Mario Campos Junior, Fernanda Gubert, et al. "A novel mutation in the RRM2 domain of TDP-43 in a Brazilian sporadic ALS patient." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.486.

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is an adult-onset progressive and fatal neurodegenerative disease that selectively affects upper and lower motor neurons. Death occurs within 3 to 5 years of onset, usually from respiratory complications. Most cases of ALS are sporadic (SALS), but familial forms of the disease (FALS) represent approximately 10% of the cases. More than 30 genes have been associated with ALS and mutations in these genes account for more than a half of all familial cases and about 10% of sporadic cases. One of the most prevalent genes is TARDBP, responsible for ap
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Hart, SN, T. Hoskin, H. Shimelis, et al. "Abstract P2-02-03: Optimized prediction of deleterious missense mutations inBRCA1andBRCA2genes." In Abstracts: 2016 San Antonio Breast Cancer Symposium; December 6-10, 2016; San Antonio, Texas. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.sabcs16-p2-02-03.

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Antonarakis, E. "The Molecular Genetics of Hemophilia A Stylianos." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643980.

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Hemophilia A is a common X linked hereditary disorder of blood coagulation due to deficiency of factor 8. The gene for factor 8 has been cloned and characterized (Nature 312:326-342, 1984). It is divided into 26 exons and 25 introns and spans 186 kb of DNA. The CGNA is 9 kb and codes for 2351 amino acids. The first 19 amino acids comprise the secretory leader peptide and the mature excreted polypeptide consists of 2332 amino acids. The nucleotide sequence of the exons and the exon-intron junctions is known and the complete amino acid sequence has been deducedSeveral laboratories have used clon
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Basharat, Zarrin, та Azra Yasmin. "Bioinformatic analysis of human Gαq Q209 missense mutations associated with uveal melanoma". У 2016 13th International Bhurban Conference on Applied Sciences and Technology (IBCAST). IEEE, 2016. http://dx.doi.org/10.1109/ibcast.2016.7429863.

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Reports on the topic "Missense mutations"

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โขวิฑูรกิจ, วีรพันธุ์, วาณี เปล่งพาณิชย์, ปาล์ม ชาติยิ่งเจริญ та LeGoff, Wilfried. โครงการวิจัยการศึกษารหัสพันธุกรรมในคนไทยที่มีไขมันในเลือดชนิดเอชดีแอลสูงมาก โดยวิธีถอดรหัสและวิเคราะห์การเปลี่ยนแปลงหน้าที่. จุฬาลงกรณ์มหาวิทยาลัย, 2011. https://doi.org/10.58837/chula.res.2011.33.

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วัตถุประสงค์: ปัจจัยทางพันธุกรรมที่เกี่ยวข้องกับภาวะเอชดีแอลในเลือดสูงยังไม่เป็นที่เข้าใจแน่ชัด คณะผู้วิจัยทำการถอดรหัสพันธุกรรมยีน 3 ยีน คือ CETP, LIPC และ LIPG ซึ่งสร้างโปรตีน คอเลสเตอริล เอสเทอร์ ทรานสเฟอร์ โปรตีน, เฮบพาติค ไลเปส และ เอนทีเลียล ไลเปส ตามลำดับ ในคนไทยที่มีระดับเอชดีแอลในเลือดสูงมากเทียบกับประชากรกลุ่มควบคุมวิธีดำเนินการวิจัย คณะผู้วิจัยทำการถอดรหัสยีน CETP, LIPC และ LIPG ในส่วนของ exon และ exon-intron junctions เพื่อค้นหาการเปลี่ยนแปลงพันธุกรรมในคนไทย 64 คนที่มีระดับเอชดีแอล ≥ 2.59 มิลลิโมล/ลิตร (100 มิลลิกรัม/เดซิเมตร) และเปรียบเทียบกับผลในประชากรกลุ่มควบคุม 113 คนผลการวิจั
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2

Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, 2015. http://dx.doi.org/10.32747/2015.7600017.bard.

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The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) de
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3

Weller, Joel I., Harris A. Lewin, and Micha Ron. Determination of Allele Frequencies for Quantitative Trait Loci in Commercial Animal Populations. United States Department of Agriculture, 2005. http://dx.doi.org/10.32747/2005.7586473.bard.

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Individual loci affecting economic traits in dairy cattle (ETL) have been detected via linkage to genetic markers by application of the granddaughter design in the US population and the daughter design in the Israeli population. From these analyses it is not possible to determine allelic frequencies in the population at large, or whether the same alleles are segregating in different families. We proposed to answer this question by application of the "modified granddaughter design", in which granddaughters with a common maternal grandsire are both genotyped and analyzed for the economic traits.
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