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Journal articles on the topic 'Missense mutations'

Author: Grafiati

Published: 4 June 2021

Last updated: 24 July 2025

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1

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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4

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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5

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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6

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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7

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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9

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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10

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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11

Weaver, Sidney, Aunay Miller, Mylan Blomquist, et al. "Abstract 5444: EGFR missense mutation(s) induce OLIG2 expression to regulate glioma stem cells maintenance and therapeutic resistance." Cancer Research 84, no. 6_Supplement (2024): 5444. http://dx.doi.org/10.1158/1538-7445.am2024-5444.

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Abstract Glioblastoma (GBM) tumors contain a subpopulation of glioma stem cells (GSC) which can escape therapeutic effects through self-renewal and invasion. Epidermal growth factor receptor (EGFR) mutations are the most common alteration in GBM (50%). One example includes extracellular domain missense mutations like G598V, A289V, and R108K (10-15%). These extracellular domain missense mutations increase ligand binding affinity, inducing a highly active receptor. Earlier reports have shown these EGFR missense mutations exhibit therapeutic resistance; however, the molecular mechanism of these m

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Zabransky, Daniel J., Christopher L. Yankaskas, Rory L. Cochran, et al. "HER2 missense mutations have distinct effects on oncogenic signaling and migration." Proceedings of the National Academy of Sciences 112, no. 45 (2015): E6205—E6214. http://dx.doi.org/10.1073/pnas.1516853112.

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Recurrent human epidermal growth factor receptor 2 (HER2) missense mutations have been reported in human cancers. These mutations occur primarily in the absence of HER2 gene amplification such that most HER2-mutant tumors are classified as “negative” by FISH or immunohistochemistry assays. It remains unclear whether nonamplified HER2 missense mutations are oncogenic and whether they are targets for HER2-directed therapies that are currently approved for the treatment of HER2 gene-amplified breast cancers. Here we functionally characterize HER2 kinase and extracellular domain mutations through

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13

Babatunde, Olayode, Ryan Quin Notti, and William D. Tap. "Characterizing TP53 mutations in bone and soft tissue sarcoma." Journal of Clinical Oncology 42, no. 16_suppl (2024): e23521-e23521. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.e23521.

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e23521 Background: Tumor protein P53 (TP53) is the most frequently mutated gene in cancer and most mutations inactivate wild type TP53 activity through heterogenous mechanisms. Whether different variants of mutant TP53 have different biologic potencies or clinical outcomes remain unclear. This ongoing study aims to characterize the spectrum of TP53 mutations in patients with bone and soft tissue sarcoma. Methods: We retrospectively identified and analyzed patients with bone and soft tissue sarcoma who underwent MSK-IMPACT (Memorial Sloan Kettering Cancer Center - Integrated Mutation Profiling

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14

Vierimaa, O., T. M. L. Ebeling, S. Kytölä, et al. "Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype–phenotype correlation." European Journal of Endocrinology 157, no. 3 (2007): 285–94. http://dx.doi.org/10.1530/eje-07-0195.

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Objective: The existence of genotype–phenotype correlation in multiple endocrine neoplasia type 1 (MEN1) is controversial. Two founder mutations of the MEN1 gene in Northern Finland gave us an opportunity to compare clinical features among heterozygotes of different mutations. Design and methods: Study cohort included 82 MEN1 heterozygotes who were tested for MEN1 during the years 1982–2001. Medical records were reviewed for manifestations of MEN1, other tumours and cause of death by the end of August 2003. Logistic regression analysis was used in evaluating the impact of age, gender and mutat

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15

Tokcaer Keskin, Zeynep. "In silico analysis of IL7RA missense mutations in lung, breast and skin cancers." Trakya University Journal of Natural Sciences 26, no. 1 (2025): 9–17. https://doi.org/10.23902/trkjnat.1545678.

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Interleukin 7 (IL7)-Interleukin 7 Receptor Alpha (IL7RA) signaling is well investigated in hematological cancers, but in solid cancers, its role needs to be investigated further. In a recent study, IL7R was identified as a key gene in leptomeningeal carcinoma. Unfortunately, there is limited patient data on leptomeningeal carcinoma from breast, lung and skin cancers. In this study, IL7RA missense mutations that could have pathologic importance in lung, breast and skin cancers were analyzed in silico. Using Genomic Data Commons (GDC) data portal, lung, breast and melanoma data from 3250 patient

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Pavlova, Anna, Thilo Albert, Michael Caspers, Johannes Oldenburg, and Rainer Schwaab. "Significance of F8 missense mutations with respect to inhibitor formation." Thrombosis and Haemostasis 109, no. 03 (2013): 464–70. http://dx.doi.org/10.1160/th12-07-0521.

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SummaryWe have identified 1,135 haemophilia A patients with missense mutations associated with mild (46%), moderate (22%), severe (16%), and mixed haemophilia phenotypes (11%). Altogether, we detected 374 different missense mutations of which 195 are not listed in the HAMSTeRS database. While missense mutations are strongly underrepresented within the factor VIII (FVIII) B-domain, they are evenly distributed throughout the entire F8 cDNA sequence. Only 36 (5%) of 720 patients with missense mutations and known inhibitor status showed an association with inhibitor formation. Inhibitor prevalence

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Ivaskevicius, Vytautas, Arijit Biswas, Anne Thomas, Ramin Tehranchi, and Johannes Oldenburg. "Genetic Background in Patients with Severe Factor XIII A-Subunit Deficiency Treated with Recombinant FXIII." Blood 120, no. 21 (2012): 1125. http://dx.doi.org/10.1182/blood.v120.21.1125.1125.

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Abstract Abstract 1125 Background and Objectives: Congenital Factor XIII (FXIII) deficiency is a rare, autosomal recessive bleeding disorder, with a significant majority of patients showing defects in the FXIII-A subunit. The disease is caused by a variety of F13A1 gene mutations resulting in a severe quantitative FXIII-A type I deficiency. Here, we report a wide spectrum of mutations identified in 41 severe Factor XIII-A deficiency patients (≥6 years of age, mean, 26.4; range, 7–60). Patients and Methods: A total of 41 patients were recruited in a multinational (23 centers, 11 countries), ope

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Gábos, Gabriella, Dumitru Moldovan, Daniela Dobru, et al. "Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency." Revista Romana de Medicina de Laborator 27, no. 3 (2019): 255–67. http://dx.doi.org/10.2478/rrlm-2019-0029.

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Abstract Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) caused by SERPING1 mutations is a rare monogenic disorder characterized by a high frequency of de novo mutations, allelic heterogeneity and populational differences. Geno- and phenotype correlation data are limited. Addressing the pathogenic complexity, we proposed to analyze the clinical and genetic characteristics in a set of Romanian patients. Material and Methods: 49 patients from 22 unrelated families with C1-INH-HAE were investigated, by calculating clinical severity score (CSS), C1-INH and C4 level as

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Davies, Faith C. J., Jilly E. Hope, Fiona McLachlan, et al. "Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function." Human Molecular Genetics 29, no. 10 (2020): 1592–606. http://dx.doi.org/10.1093/hmg/ddaa042.

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Abstract Heterozygous de novo mutations in EEF1A2, encoding the tissue-specific translation elongation factor eEF1A2, have been shown to cause neurodevelopmental disorders including often severe epilepsy and intellectual disability. The mutational profile is unusual; ~50 different missense mutations have been identified but no obvious loss of function mutations, though large heterozygous deletions are known to be compatible with life. A key question is whether the heterozygous missense mutations operate through haploinsufficiency or a gain of function mechanism, an important prerequisite for d

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Leventer, Richard J., Carlos Cardoso, David H. Ledbetter, and William B. Dobyns. "LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ." Neurology 57, no. 3 (2001): 416–22. http://dx.doi.org/10.1212/wnl.57.3.416.

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Background: Classical lissencephaly is a disorder of neuroblast migration with most patients having mutations of either the LIS1 or DCX genes. Most patients with lissencephaly secondary to LIS1 mutations have a severe malformation consisting of generalized agyria and pachygyria. However, increasing experience suggests that the phenotypic spectrum is wider than previously thought.Methods: The authors describe the clinical and imaging features and mutation data of the five known patients with missense mutations of the LIS1 gene and emphasize one patient with normal intelligence.Results: Patients

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Zhang, Zhe, Maria A. Miteva, Lin Wang, and Emil Alexov. "Analyzing Effects of Naturally Occurring Missense Mutations." Computational and Mathematical Methods in Medicine 2012 (2012): 1–15. http://dx.doi.org/10.1155/2012/805827.

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Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This paper focuses on genetic mutations resulting in a change in the amino acid sequence of the corresponding protein and how to assess their effects on protein wild-type characteristics. The existing methods and approaches for predicting the effects of mutation on protein stability, str

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Abuzenadah, Adel, Ashley Cartwright, Nawal Al-Shammari, et al. "Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort." Thrombosis and Haemostasis 110, no. 08 (2013): 264–74. http://dx.doi.org/10.1160/th13-02-0135.

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SummarySeveral cohort studies have investigated the molecular basis of von Willebrand disease (VWD); however, these have mostly focused on European and North American populations. This study aimed to investigate mutation spectrum in 26 index cases (IC) from Turkey diagnosed with all three VWD types, the majority (73%) with parents who were knowingly related. IC were screened for mutations using multiplex ligation-dependent probe amplification and analysis of all von Willebrand factor gene (VWF) exons and exon/intron boundaries. Selected missense mutations were expressed in vitro. Candidate VWF

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Cron, Randy Q., Mingce Zhang, Remy R. Cron, et al. "DOCK8 mutations in COVID-19 and MIS-C Cytokine Storm Syndrome." Journal of Immunology 206, no. 1_Supplement (2021): 62.04. http://dx.doi.org/10.4049/jimmunol.206.supp.62.04.

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Abstract Background We recently identified DOCK8 as a novel gene associated with cytokine storm syndrome (CSS). Heterozygous missense mutations in DOCK8 diminish NK cell lytic function and contribute to increased pro-inflammatory cytokine production (CSS). CSS is a potential complication of COVID-19 with severe consequences. Children are at risk of a SARS-CoV-2 post-infectious CSS, multisystem inflammatory syndrome in children (MIS-C). Host genetic factors associated with COVID-19 CSS and MIS-C CSS are unknown. Methods To date, 16 adult patients enrolled in a COVID-19 CSS clinical trial at UAB

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Mustafa, S., I. Pabinger, and C. Mannhalter. "Protein S deficiency type I: identification of point mutations in 9 of 10 families." Blood 86, no. 9 (1995): 3444–51. http://dx.doi.org/10.1182/blood.v86.9.3444.bloodjournal8693444.

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We identified potentially causative mutations in the active protein S gene (PROS 1) by direct sequencing of PROS 1-specific polymerase chain reaction (PRC) products of all 15 exons, including exon-intron boundaries in 10 families with hereditary protein S deficiency type I. Seven different mutations were found in 9 of 10 families, including one frame shift mutation, a previously published splice site mutation (both occurring in two unrelated families), four missense mutations, and a stop codon at the beginning of exon 12. In family studies, cosegregation of the mutation with the disease could

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Uyanik, G., N. Elcioglu, J. Penzien, et al. "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome." Neurology 66, no. 7 (2006): 1044–48. http://dx.doi.org/10.1212/01.wnl.0000204181.31175.8b.

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Background: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome.Methods: The authors assessed clinically and genetically three isolated cases from Germany and Turkey with symptoms consistent with Andermann syndrome.Results: The authors detected four novel mutations within the KCC3 gene in their patients: two d

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Gong, Wen-yu, Fan-na Liu, Liang-hong Yin, and Jun Zhang. "Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review." BioMed Research International 2021 (March 2, 2021): 1–10. http://dx.doi.org/10.1155/2021/6664973.

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Alport syndrome (AS) is an inherited kidney disease caused by defects in type IV collagen, which is characterized by hematuria, progressive nephritis or end-stage renal disease (ESRD), hearing loss, and occasionally ocular lesions. Approximately 80% of AS cases are caused by X-linked mutations in the COL4A5 gene. This study explored novel deletion and missense mutations in COL4A5 responsible for renal disorder in two Han Chinese families. In pedigree 1, the five male patients all had ESRD at a young age, while the affected female members only presented with microscopic hematuria. Whole exome s

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Guo, Zhiping, Linhua Yang, Xiuyu Qin, Xiue Liu, and Yaofang Zhang. "Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations." Clinical and Applied Thrombosis/Hemostasis 24, no. 1 (2017): 70–78. http://dx.doi.org/10.1177/1076029616687848.

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Hemophilia A (HA) is an X-linked bleeding disorder caused by heterogeneous mutations in the factor VIII gene ( F8). Our aim is to identify the causative mutations in a large HA cohort from China. We studied 216 unrelated HA families. Molecular analyses of F8 were performed using a combination of molecular techniques, including polymerase chain reaction, direct sequencing, and multiplex ligation-dependent probe amplification. The deleterious consequences of the unreported missense mutations were evaluated using various bioinformatics approaches. Causative mutations in F8 were identified in 209

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Phillips, John D., Tiffany L. Parker, Heidi L. Schubert, Frank G. Whitby, Christopher P. Hill, and James P. Kushner. "Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase." Blood 98, no. 12 (2001): 3179–85. http://dx.doi.org/10.1182/blood.v98.12.3179.

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Abstract Functional consequences of 12 mutations—10 missense, 1 splicing defect, and 1 frameshift mutation—were characterized in the uroporphyrinogen decarboxylase (URO-D) gene found in Utah pedigrees with familial porphyria cutanea tarda (F-PCT). All but one mutation altered a restriction site in the URO-D gene, permitting identification of affected relatives using a combination of polymerase chain reaction and restriction enzyme digestion. In a bacterial expression system, 3 of the missense mutants were found in inclusion bodies, but 7 were expressed as soluble proteins. Enzymatic activity o

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Dai, Letian, John Clarke, Paula Bolton-Maggs, Geoffrey Savidge, Anwar Alhaq, and Michael Mitchell. "Characterisation of five factor XI mutations." Thrombosis and Haemostasis 97, no. 06 (2007): 884–89. http://dx.doi.org/10.1160/th06-12-0704.

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SummaryA large scale factor XI (FXI) mutation screening program identified a number of novel candidate mutations and previously reported mutations and polymorphisms. Five potential missense mutations were selected for further study; these included two novel missense mutations – Met-18Ile (p.Met1Ile) and Met102Thr (p.Met120Thr), two previously reported missense mutations – Tyr133Ser (Tyr151Ser) and Thr575Met (Thr593Met), and one amino acid substitution previously reported as a polymorphism – Arg378Cys (Arg396Cys). The substitutions were recreated by the site-directed mutagenesis of a FXI cDNA a

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Iacobuzio-Donahue, Christine A., Jason Song, Giovanni Parmiagiani, Charles J. Yeo, Ralph H. Hruban, and Scott E. Kern. "Missense Mutations of MADH4." Clinical Cancer Research 10, no. 5 (2004): 1597–604. http://dx.doi.org/10.1158/1078-0432.ccr-1121-3.

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Kapoor, Ritika R., Sarah E. Flanagan, Piers Fulton, et al. "Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations." European Journal of Endocrinology 161, no. 5 (2009): 731–35. http://dx.doi.org/10.1530/eje-09-0615.

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BackgroundActivating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive hypoglycaemia. GDH is regulated by another intra-mitochondrial enzyme sirtuin 4 (SIRT4). Sirt4 knockout mice demonstrate activation of GDH with increased amino acid-stimulated insulin secretion.ObjectivesTo study the genotype–phenotype correlations in patients with GLUD1 mutations. To report the phenotype and functional analysis of a novel mutation (P436L) in th

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SUCULARLI, CEREN. "Evaluation of cancer related missense mutations in CENPH." Acta Medica 50, no. 4 (2019): 42–47. http://dx.doi.org/10.32552/2019.actamedica.385.

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Objective: CENPH, centromere protein H, is one of the constitutive kinetochore proteins. High expression of CENPH has been shown in various forms of cancers; however, studies searching the effect of CENPH mutations in cancers are limited. Therefore, the aim of this study is to investigate the potential effects of the missense mutations of CENPH that have been identified in different cancers. Materials and Methods: Missense CENPH mutations, which have been observed in cancers, were downloaded from the COSMIC v89. The effect of missense mutations was predicted by using PredictSNP1.0. The p

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Forleo, Cinzia, Maria Cristina Carella, Paolo Basile, et al. "Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience." Biomedicines 12, no. 6 (2024): 1293. http://dx.doi.org/10.3390/biomedicines12061293.

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Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ventricular arrhythmia (MVA) of ≥10%. The risk prediction score for MVA includes non-missense LMNA mutations, despite their role as an established risk factor for sudden cardiac death (SCD) has been questioned in several studies. The purpose of this study is to investigate cardiac features and find gene–phenotype correlations that would contribute to

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Score, Joannah, Claire Hidalgo-Curtis, Amy V. Jones, et al. "Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms." Blood 119, no. 5 (2012): 1208–13. http://dx.doi.org/10.1182/blood-2011-07-367243.

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Abstract The polycomb repressive complex 2 (PRC2) is a highly conserved histone H3 lysine 27 methyltransferase that regulates the expression of developmental genes. Inactivating mutations of the catalytic component of PRC2, EZH2, are seen in myeloid disorders. We reasoned that the other 2 core PRC2 components, SUZ12 and EED, may also be mutational targets in these diseases, as well as associated factors such as JARID2. SUZ12 mutations were identified in 1 of 2 patients with myelodysplastic syndrome/myeloproliferative neoplasms with 17q acquired uniparental disomy and in 2 of 2 myelofibrosis ca

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Yang, Lihong, Yingyu Wang, Jianpin Zhou, et al. "Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients." Acta Haematologica 135, no. 4 (2016): 238–40. http://dx.doi.org/10.1159/000444209.

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Congenital factor XII (FXII) deﬁciency is a rare autosomal recessive disorder, characterized by a great variability in its clinical manifestations. In this study, we screened for mutations in the F12 gene of 4 unrelated patients with FXII coagulant activity <10% of that of normal human plasma. To investigate the molecular defects in these FXII-deficient patients, we performed FXII mutation screening. By sequencing all coding exons as well as flanking intronic regions of the F12 gene, 6 different mutations, including 3 missense mutations (Gly341Arg, Glu502Lys and Gly542 Ser), 1 insertion (71

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Gąsior-Perczak, Danuta, Artur Kowalik, Krzysztof Gruszczyński, et al. "Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma." Cancers 13, no. 3 (2021): 470. http://dx.doi.org/10.3390/cancers13030470.

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The CHEK2 gene is involved in the repair of damaged DNA. CHEK2 germline mutations impair this repair mechanism, causing genomic instability and increasing the risk of various cancers, including papillary thyroid carcinoma (PTC). Here, we asked whether CHEK2 germline mutations predict a worse clinical course for PTC. The study included 1547 unselected PTC patients (1358 women and 189 men) treated at a single center. The relationship between mutation status and clinicopathological characteristics, treatment responses, and disease outcome was assessed. CHEK2 mutations were found in 240 (15.5%) of

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Talsness, Dana M., Joseph J. Belanto, and James M. Ervasti. "Disease-proportional proteasomal degradation of missense dystrophins." Proceedings of the National Academy of Sciences 112, no. 40 (2015): 12414–19. http://dx.doi.org/10.1073/pnas.1508755112.

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The 427-kDa protein dystrophin is expressed in striated muscle where it physically links the interior of muscle fibers to the extracellular matrix. A range of mutations in the DMD gene encoding dystrophin lead to a severe muscular dystrophy known as Duchenne (DMD) or a typically milder form known as Becker (BMD). Patients with nonsense mutations in dystrophin are specifically targeted by stop codon read-through drugs, whereas out-of-frame deletions and insertions are targeted by exon-skipping therapies. Both treatment strategies are currently in clinical trials. Dystrophin missense mutations,

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Chen, Yuting, Haoyu Lu, Ning Zhang, Zefeng Zhu, Shuqin Wang, and Minghui Li. "PremPS: Predicting the impact of missense mutations on protein stability." PLOS Computational Biology 16, no. 12 (2020): e1008543. http://dx.doi.org/10.1371/journal.pcbi.1008543.

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Computational methods that predict protein stability changes induced by missense mutations have made a lot of progress over the past decades. Most of the available methods however have very limited accuracy in predicting stabilizing mutations because existing experimental sets are dominated by mutations reducing protein stability. Moreover, few approaches could consistently perform well across different test cases. To address these issues, we developed a new computational method PremPS to more accurately evaluate the effects of missense mutations on protein stability. The PremPS method is comp

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Ogata, Kyoichi, and Steven W. Pipe. "Most Factor VIII B Domain Missense Mutations Are Unlikely to Be Causative Mutations for Hemophilia A: Implications for Factor VIII Genetic Analysis." Blood 112, no. 11 (2008): 513. http://dx.doi.org/10.1182/blood.v112.11.513.513.

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Abstract Hemophilia A results from the quantitative or qualitative deficiency of coagulation factor VIII (FVIII). FVIII is synthesized as a single-chain polypeptide of approximately 280 kDa with the domain structure A1-A2-B-A3-C1-C2. Whereas the A and C domains exhibit ~40% amino acid identity to each other and to the A and C domains of coagulation factor V, the B domain is not homologous to any known protein and is dispensable for FVIII cofactor activity. Missense mutations in the FVIII B domain have been described in patients with variable phenotypes of hemophilia A. According to the NCBI SN

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Sun, Chong, Jie Song, Yanjun Jiang, et al. "Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes." Neurology Genetics 5, no. 2 (2019): e565. http://dx.doi.org/10.1212/nxg.0000000000000316.

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ObjectiveTo expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.MethodsWhole-exome sequencing was performed on index patients from 4 unrelated families with leukoencephalopathy. Candidate pathogenic variants and their cosegregation were confirmed by Sanger sequencing. Effects of mutations on KARS protein function were examined by aminoacylation assays and yeast complementation assays.ResultsCommon clinical features of the patients

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ÖZDEMİR, Mustafa, Şerif HAMİTOĞLU, Ferda ÖZLÜ, Hacer YAPICIOĞLU, Gülen GÜL MERT, and Mehmet SATAR. "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome." Cukurova Medical Journal 47, no. 4 (2022): 1780–83. http://dx.doi.org/10.17826/cumj.1170135.

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Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range of clinical expressions occur. The most common mutations in childhood have been identified in the cytochrome c oxidase Ⅰ and Ⅳ genes. The 7706G˃A missense mutation in the Cox Ⅱ gene was previously reported in one case after postmortem histological study. Consequently, our patient is the first patient diagnosed with AHS with a 7706G˃A missense mut

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Huang, Chein-Fuang, Lee-Yung Shih, Der-Cherng Liang, et al. "High Frequency of C-Terminal Frame-Shift Mutations of RUNX1 Gene in De Novo AML with Partial Tandem Duplication of MLL." Blood 114, no. 22 (2009): 3468. http://dx.doi.org/10.1182/blood.v114.22.3468.3468.

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Abstract Abstract 3468 Poster Board III-356 Background Transcription factor RUNX1 is essential for normal hematopoiesis. RUNX1 mutations, mainly at Runt homology domain (RHD), have been described in patients with AML-M0 and were rarely found in non-M0 AML. Aim We aimed to analyze the RUNX1 mutations in AML patients with partial tandem duplication of MLL (MLL-PTD) and to investigate the biological functions of the mutants detected. Patients and methods Bone marrow samples from 93 patients with MLL-PTD were analyzed for RUNX1 mutations. MLL-PTD was screened by Southern-blot analysis followed by

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Yuille, Martin R., Alison Condie, Chantelle D. Hudson, et al. "ATM mutations are rare in familial chronic lymphocytic leukemia." Blood 100, no. 2 (2002): 603–9. http://dx.doi.org/10.1182/blood.v100.2.603.

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Abstract It is now recognized that a subset of B-cell chronic lymphocytic leukemia (CLL) is familial. The genetic basis of familial CLL is poorly understood, but recently germ line mutations in the Ataxia Telangiectasia (ATM) gene have been proposed to confer susceptibility to CLL. The evidence for this notion is, however, not unequivocal. To examine this proposition further we have screened the ATM gene for mutations in CLLs from 61 individuals in 29 families. Truncating ATM mutations, including a knownATM mutation, were detected in 2 affected individuals, but the mutations did not cosegregat

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Ozdemir, D., P. S. Hart, O. H. Ryu, et al. "MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta." Journal of Dental Research 84, no. 11 (2005): 1031–35. http://dx.doi.org/10.1177/154405910508401112.

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The Amelogenesis Imperfecta (AI) are a group of clinically and genetically heterogeneous disorders that affect enamel formation. To date, mutations in 4 genes have been reported in various types of AI. Mutations in the genes encoding the 2 enamel proteases, matrix metalloproteinase 20 ( MMP20) and kallikrein 4 ( KLK4), have each been reported in a single family segregating autosomal-recessive hypomaturation AI. To determine the frequency of mutations in these genes, we analyzed 15 Turkish probands with autosomal-recessive hypomaturation AI for MMP20 and KLK4 gene mutations. No KLK4 mutations w

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Tuddenham, E. G. D. "Molecular Biological Aspects of Inhibitor Development." Vox Sanguinis 77, S1 (1999): 13–16. http://dx.doi.org/10.1111/j.1423-0410.1999.tb00005.x.

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AbstractMutation genotype studies have led to a number of interesting observations about the role of the different types of mutations in inhibitor development. Searchable information on mutations, phenotype data, models, etc., are available on the internet at http://europium.mrc.rpms.ac.uk. A relatively high incidence of inhibitors occurs in patients with deletion mutations. Stop mutations are also associated with a high incidence of inhibitors, although there is anomalous distribution of the inhibitors associated with different stop codons. Inhibitors have been associated with a small number

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Hagiwara, Takeshi, Hiroshi Inaba, Shinichi Yoshida, et al. "A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease." Thrombosis and Haemostasis 76, no. 02 (1996): 253–57. http://dx.doi.org/10.1055/s-0038-1650564.

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SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense

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Gao, Shujuan, Min Lin, Yan Jin, et al. "Three Novel Mutations of APC Gene Found in A Chinese Family with Familial Adenomatous Polyposis." Journal of Clinical and Nursing Research 6, no. 3 (2022): 174–80. http://dx.doi.org/10.26689/jcnr.v6i3.3893.

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Objective: To identify the causative adenomatous polyposis coli (APC) gene defects associated with a pedigree of familial adenomatous polyposis (FAP). Methods: FAP was diagnosed based on clinical manifestations, family history, as well as endoscopic and pathological examinations. The blood samples of the FAP pedigree members, colonic polyp patients, and normal individuals were collected. Genomic DNA was then extracted from those samples. APC mutation analysis was conducted via direct polymerase chain reaction (PCR) sequencing. Results: Three synonymous mutations and a missense mutation were fo

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Tankovic, Jacques, Dominique Lamarque, Jean-Charles Delchier, Claude-James Soussy, Agnes Labigne, and Peter J. Jenks. "Frequent Association between Alteration of therdxA Gene and Metronidazole Resistance in French and North African Isolates of Helicobacter pylori." Antimicrobial Agents and Chemotherapy 44, no. 3 (2000): 608–13. http://dx.doi.org/10.1128/aac.44.3.608-613.2000.

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ABSTRACT Mutations in the rdxA gene have been associated with the acquisition of resistance to metronidazole in Helicobacter pylori. This gene encodes an NADPH nitroreductase whose expression is necessary for intracellular activation of the drug. We wished to examine whether mutations in rdxA were present in resistant H. pylori isolates infecting either French or North African patients. We determined the complete nucleotide sequences of the rdxA genes from seven French and six North African patients infected with paired resistant and sensitive strains. Genotyping by random amplified polymorphi

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Yadegari, Hamideh, Julia Driesen, Anna Pavlova, Arijit Biswas, Hans-Jörg Hertfelder, and Johannes Oldenburg. "Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients." Thrombosis and Haemostasis 108, no. 10 (2012): 662–71. http://dx.doi.org/10.1160/th12-02-0089.

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SummaryVon Willebrand disease (VWD) is the most common inherited bleeding disorder caused by quantitative or qualitative defects of the von Willebrand factor (VWF). VWD is classified into three types – type 1 (partial quantitative deficiencies), type 2 (qualitative defects) and type 3 (complete deficiency of VWF). In this study we explored genotype and phenotype characteristics of patients with VWD with the aim of dissecting the distribution of mutations in different types of VWD. One hundred fourteen patients belonging to 78 families diagnosed to have VWD were studied. Mutation analysis was p

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Lee, Jiyun, Hana Kim, Antonio Gualberto, Catherine Rose Scholz, and Se Hoon Park. "Tipifarnib, a farnesyltransferase inhibitor, for metastatic urothelial carcinoma harboring HRAS mutations." Journal of Clinical Oncology 38, no. 15_suppl (2020): 5086. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.5086.

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5086 Background: Tipifarnib is a farnesyltransferase inhibitor known to block RAS signaling and attenuate cancer cell proliferation. We tested the activity and safety of tipifarnib in patients with previously treated urothelial carcinoma (UC) carrying HRAS mutations. Methods: In a prospective phase II clinical trial, genetic screening was performed in 224 UC patients; those with missense HRAS mutations or STK11:rs2075606 received study treatment. Eligible patients received oral tipifarnib 900 mg twice daily on days 1–7 and 15–21 of 28-d treatment cycles. The primary endpoint was progression-fr

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