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Journal articles on the topic 'Nonsense alteration'

Author: Grafiati

Published: 30 November 2024

Last updated: 31 July 2025

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1

Muto, T., S. Wakui, H. Takahashi, et al. "p53 Gene Mutations Occurring in Spontaneous Benign and Malignant Mammary Tumors of the Dog." Veterinary Pathology 37, no. 3 (2000): 248–53. http://dx.doi.org/10.1354/vp.37-3-248.

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Sixty-three cases of benign and malignant canine mammary tumors were analyzed to define the alteration of exons 5–8 for the p53 tumor suppressor gene using polymerase chain reaction direct sequence analysis with paraffin-embedded tissues. Four missense mutations were found in 38 benign mammary tumors (11%), and five missense (one tumor had two missense mutations) and one nonsense mutations were found in 25 mammary carcinomas (20%). These data suggest that the p53 gene alterations might be initiated at an early stage of canine mammary carcinogenesis and p53 mutations might be associated with ma

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2

Sun, Woo, Jina Lee, Bong Kim, Jong Kim, and Joonhong Park. "Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression." Diagnostics 11, no. 3 (2021): 416. http://dx.doi.org/10.3390/diagnostics11030416.

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This study aimed to clarify the genetic difference between Korean triple-negative breast cancer (TNBC) and other breast cancer (BC) subtypes. TNBC was defined as the absence of hormonal receptors and human epidermal growth factor receptor 2 (HER2) amplification. DNA panel of the Ion Torrent Oncomine Comprehensive Assay (OCA) v3 was performed to identify somatic alteration in 48 specimens. In a total of 102 alterations (37 nonsense, 35 missense, 8 frameshift and 22 amplifications), 30 nucleotide alterations (24 nonsense, 1 missense, and 5 frameshift) were newly identified. The eight most common

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Huang, Minqi, Ellen B. Jaeger, Sydney Caputo, et al. "Longitudinal ctDNA alterations in germline positive CRPC patients." Journal of Clinical Oncology 40, no. 6_suppl (2022): 275. http://dx.doi.org/10.1200/jco.2022.40.6_suppl.275.

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275 Background: Circulating tumor-derived DNA (ctDNA) is an accessible method for characterizing somatic alterations. We report longitudinal ctDNA screenings of mCRPC patients (pts) who have had germline testing. Methods: Patients with both germline testing and ctDNA assessment were included. Germline testing was performed with a multi-gene cancer panel from Invitae (50-83 genes) and somatic alterations in ctDNA were identified by testing with Guardant 360 (70-83 genes). ctDNA alterations were characterized as deletions, frameshift, missense, nonsense, and other mutations. A total of 177 patie

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Zhang, Longfeng, Weijin Xiao, Fangjun Wu, et al. "SMARCA4-mutated lung adenocarcinoma, a distinctive non-small cell lung cancer with worse prognosis." Journal of Clinical Oncology 39, no. 15_suppl (2021): e20548-e20548. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.e20548.

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e20548 Background: SMARCA4 gene is one of the catalytic subunits of the SWI/SNF chromosomal remodeling complex, which can regulate important cellular processes and functions and is closely associated to tumors. The clinical features, therapeutic efficacy, prognosis and pathological features of lung adenocarcinoma with this genetic variation are still unknown and controversial. Methods: The study recruited 274 patients (pts) with lung adenocarcinoma whose samples were sent to perform parallel hybridization-based next-generation sequencing. Two categories of SMARCA4 mutations were divided into T

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Gagny, Bénédicte, and Philippe Silar. "Identification of the Genes Encoding the Cytosolic Translation Release Factors from Podospora anserina and Analysis of Their Role During the Life Cycle." Genetics 149, no. 4 (1998): 1763–75. http://dx.doi.org/10.1093/genetics/149.4.1763.

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Abstract In an attempt to decipher their role in the life history and senescence process of the filamentous fungus Podospora anserina, we have cloned the su1 and su2 genes, previously identified as implicated in cytosolic translation fidelity. We show that these genes are the equivalents of the SUP35 and SUP45 genes of Saccharomyces cerevisiae, which encode the cytosolic translation termination factors eRF3 and eRF1, respectively. Mutations in these genes that suppress nonsense mutations may lead to drastic mycelium morphology changes and sexual impairment but have little effect on life span.

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Louie, Raymond J., Michael J. Friez, Cindy Skinner, et al. "Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12." American Journal of Medical Genetics Part A 182, no. 3 (2019): 595–96. http://dx.doi.org/10.1002/ajmg.a.61443.

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Ohara, O., Y. Gahara, T. Miyake, H. Teraoka, and T. Kitamura. "Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene." Journal of Cell Biology 121, no. 2 (1993): 387–95. http://dx.doi.org/10.1083/jcb.121.2.387.

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The existence of a neurofilament-deficient mutant of Japanese quail was recently documented (Yamasaki, H., C. Itakura, and M. Mizutani. 1991. Acta Neuropathol. 82:427-434), but the genetic events leading to the neurofilament deficiency have yet to be determined. Our molecular biological analyses revealed that the expression of neurofilament-L (NF-L) gene was specifically repressed in neurons of this mutant. To search for mutation(s) responsible for the shutdown of this gene expression, we cloned and sequenced the NF-L genes in the wild-type and mutant quails. It is eventually found that the NF

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Qin, Wei, Huina Lu, Jianfei Fu, and Aibin Liang. "Alteration of SOCS Is a Possible Pathogenetic Mechanism of Myeloproliferative Neoplasm." Blood 116, no. 21 (2010): 4121. http://dx.doi.org/10.1182/blood.v116.21.4121.4121.

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Abstract Abstract 4121 The activation of the JAK/STAT pathway caused by the JAK2 gene mutations is an important pathogenetic mechanism of myeloproliferative neoplasm(MPN). Recently, many evidences suggest that there are factors besides the mutations of JAK2 gene participate in the pathogenesis of MPN. Suppressors of cytokine signaling (SOCS) proteins are potent inhibitors of JAK/STAT pathway, therefore we hypothesized that the down regulation of SOCS protein system may be a possible pathogenetic mechanism of MPN through the activation of the JAK/STAT pathway. In order to testify our hypothesis

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Vail, E., M. Gayhart, and M. Azimpouran. "Malignant Melanoma with Atypical Phenotype and RAC1 Mutation." American Journal of Clinical Pathology 160, Supplement_1 (2023): S95. http://dx.doi.org/10.1093/ajcp/aqad150.210.

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Abstract Introduction/Objective Melanoma, a highly invasive form of skin cancer associated with high mortality rates, poses significant challenges in diagnosis and treatment. RAC1, a member of the RHO family of GTPases, plays a crucial role as a molecular switch in cellular processes. A specific mutation in RAC1, caused by C &gt; T transition induced by UV radiation, leads to P29S alteration, activating the SRF/MRTF pathway and triggering a phenotypic switch towards a mesenchymal phenotype. Methods/Case Report We present a case of a 74-year-old male patient who presented with a six-week hi

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Zhang, Xingming, Junjie Zhao, Xiaoxue Yin, et al. "Multi-omics analyses and molecular subtypes to provide potential therapeutic implications in fumarate hydratase-deficient renal cell carcinoma." Journal of Clinical Oncology 42, no. 16_suppl (2024): 4522. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.4522.

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4522 Background: Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare yet highly lethal kidney cancer. To deepen our understanding of FH-deficient RCC, we conducted a comprehensive integrated genomic study. Methods: A total of 126 treatment naïve FH-deficient RCC tissue samples were extracted from our multi-center database. Whole-exome, RNA-seq, and DNA-methylation sequencing were performed. All cases were confirmed with both FH/2SC immunohistochemical staining and FH alterations analysis. Results: Through whole-exome sequencing, we found FH alteration patterns were a

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Esakki, Amba, Anitha Pandi, Smiline A. S. Girija, and Vijayashree Priyadharsini Jayaseelan. "Correlating the genetic alterations and expression profile of the TRA2B gene in HNSCC and LUSC." Folia Medica 66, no. 5 (2024): 673–81. http://dx.doi.org/10.3897/folmed.66.e117367.

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Introduction: Transformer (TRA2B) is a serine/arginine-rich (SR)-like protein family that regulates the alternative splicing of several genes in a concentration-dependent manner. Amplification of the TRA2B gene, which codes for TRA2B, occurs in several malignancies, including those of the lung, cervix, head and neck, ovary, stomach, and uterine. Materials and methods: The present study design follows a computational approach to predict the molecular mechanisms underlying TRA2B alterations in two cancer phenotypes, viz., lung and head and neck squamous cell carcinoma. The genetic alteration in

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Borkar, Yashvanthi, Krishnananda Nayak, Ranjan K. Shetty, and Rajasekhar Moka. "A TBX5 NONSENSE MUTATION IN SIBLINGS WITH DIVERGENT PHENOTYPES ASSOCIATED WITH ISOLATED SEPTAL DEFECTS." Asian Journal of Pharmaceutical and Clinical Research 10, no. 9 (2017): 126. http://dx.doi.org/10.22159/ajpcr.2017.v10i9.19628.

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Objective: Heart septal defects (HSD) account for 50% of the congenital heart malformations and are characterized by the hole in the wall of tissue which separates the heart chambers. The known causes of the SD are multifactorial and complex inheritance.Methods: Isolated 15 subjects with ostium secundum atrial SD (OS-ASD) and one subject with perimembranous ventricular SD (VSD) among 125 clinically diagnosed SD were included in the study. Sanger sequencing was performed for all the exons of TBX5 genes using genomic DNA of these patients.Results: Sequence variation c.444 G>A substitution, le

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Mayor, Paul, Laurie M. Gay, Erica Gornstein, et al. "BRCA1/2 reversion mutations revealed in breast and gynecologic cancers sequenced during routine clinical care using tissue or liquid biopsy." Journal of Clinical Oncology 35, no. 15_suppl (2017): 5551. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.5551.

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5551 Background: Tumors with genomic alteration (GA) of BRCA1 or BRCA2 ( BRCA) may be more sensitive to platinum (Pt) therapies and PARP inhibitors (PARPi). However, secondary reversion mutations (revGA) can arise that may restore BRCA function and underlie reduced sensitivity to Pt compounds or PARPi. Methods: DNA extracted from FFPE tumor tissue or blood samples obtained during routine clinical care for patients with predominantly relapsed, refractory or metastatic breast cancer (10967) or ovarian/peritoneal cancer (8352) was analyzed by hybrid-capture, next-generation sequencing for all cla

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Rücker, Frank G., Lars Bullinger, Frank Stegelmann, et al. "NF1 Alterations Are Common In AML with Complex Karyotype and Correlate with Specific Genomic Imbalances." Blood 116, no. 21 (2010): 4179. http://dx.doi.org/10.1182/blood.v116.21.4179.4179.

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Abstract Abstract 4179 In acute myeloid leukemia (AML), complex karyotype is defined as the presence of three or more chromosome abnormalities in the absence of one of the recurrent genetic abnormalities as defined by the recent WHO classification. AML with complex karyotype (CK-AML) account for approximately 10 to 15% of all cases and are associated with preceding myelodysplasia (MDS) or exposure to toxic agents; the prognosis of patients is very poor. So far, little is known about the molecular mechanisms underlying initiation or progression of CK-AML. To identify genomic regions of potentia

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Rifai, Kaoutar, Loubna Guissi, Nawal Moussaid, Lamyae Echchad, Hinde Iraqi, and Mohamed El Hassan Gharbi. "Simpson-Golabi-Behmel Syndrome and Pituitary Insufficiency: Genetic Predisposition or Coincidence." Saudi Journal of Medicine 8, no. 05 (2023): 202–4. http://dx.doi.org/10.36348/sjm.2023.v08i05.002.

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Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder that is characterized by the overgrowth of various parts of the body. We present a unique case of a young man with SGBS associated with pituitary insufficiency. This association has not been described yet in the literature. The patient was diagnosed with SGBS at 12 years, which was further confirmed through genetic testing (de novo nonsense mutation of the GPC3 gene). At the age of 18, the patient consulted for alteration of the general condition with asthenia. Laboratory evaluation revealed pituitary insufficiency consisting of

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Li, Yan, Qingcong Li, Yaxuan Zhang, et al. "The landscape of ATM alteration in Chinese solid tumor patients." Journal of Clinical Oncology 41, no. 16_suppl (2023): e15147-e15147. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e15147.

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e15147 Background: The Ataxia-telangiectasia mutated (ATM) gene is an oncosuppressor, which plays an important role in the repair of DNA double-strand breaks (DSBs). The mutation profiles of ATM gene in Chinese solid tumor patients can help understand pathogenesis, prognosis, and identify targets for therapy. Methods: Using commercial NGS assays, we retrospectively analyzed genomic DNA alterations in normal-paired samples from 1351 patients with malignancies from January 2021 to October 2022, and alterations including single base substitution, short and long insertion/deletions, copy number va

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Brown, Gary, De-Mao Chen, J. Scott Christianson, Ron Lee, and William S. Stark. "Receptor demise from alteration of glycosylation site in Drosophila opsin: Electrophysiology, microspectrophotometry, and electron microscopy." Visual Neuroscience 11, no. 3 (1994): 619–28. http://dx.doi.org/10.1017/s0952523800002509.

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AbstractIn the δAsn20 Drosophila stock, the N-linked glycosylation site of opsin in Rl-6 receptors (Rhl) is absent. We used electroretinography (ERG), microspectrophotometry (MSP), and electron microscopy (EM) to quantify visual cell defects. Positive controls, w9, had wild type Rhl. MSP revealed minimal photopigment in δAsn20 for 6 days posteclosion; w9 had near normal visual pigment. ERG sensitivity and prolonged depolarizing afterpotential (PDA) were compared for δAsn20 and w9. δAsn20's Rl-6 function is decreased 100–fold at eclosion and diminishes until only R7/8 functions at 11 days. What

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Camacho, Emma, Luis Hernández, Silvia Hernández, et al. "ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances." Blood 99, no. 1 (2002): 238–44. http://dx.doi.org/10.1182/blood.v99.1.238.

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The ataxia–telangiectasia mutated (ATM) gene codifies for a protein critically involved in the cellular response to DNA damage. ATM alterations have been observed in some sporadic lymphoproliferative disorders. The recurrent 11q22-23 deletions found in mantle cell lymphoma (MCL) suggest that ATM could be inactivated in these lymphomas. In this study, ATM gene alterations and protein expression were examined in 20 and 17 MCL tumor specimens, respectively. Previously, these patients had been examined forp53 and p14ARF gene status and analyzed by comparative genomic hybridization. Nine patients h

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Gardner, Caroline, and Deborah Good. "In silico Analysis of a Nonsense Mutation Linked to Autosomal Recessive Hypercholesterolemia Type 4." American Journal of Undergraduate Research 22, no. 1 (2025): 37–46. https://doi.org/10.33697/ajur.2025.132.

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Autosomal recessive familial hypercholesterolemia-4 (FHCL4) is a genetic disorder caused by mutations in LDLRAP1, a gene encoding a protein that allows the LDL receptor to be endocytosed and degraded in the liver. In silico tools were used to examine the rs121908325 variant linked to FHCL-4. The variant protein LDLRAP1Q136X affects the coding region of LDLRAP1, resulting in a glutamine amino acid being changed into a stop codon, truncating the protein at amino acid 136. Phylogenetic analysis of ten different animal species demonstrated that glutamine 136 is 100% conserved in the LDLRAP1 protei

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Basu, Gargi D., Tracey White, Janine R. LoBello, et al. "ARID1A alterations in gastrointestinal cancers as therapeutic opportunities." Journal of Clinical Oncology 34, no. 4_suppl (2016): 671. http://dx.doi.org/10.1200/jco.2016.34.4_suppl.671.

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671 Background: The gene encoding the AT-rich interacting domain (ARID1A) is a tumor suppressor and a subunit of the Switch/Sucrose Non fermentable (SWI/SNF) chromatin remodeling complex that regulates gene expression. Additionally, ARID1A functions to maintain genomic integrity by interacting with ATR. Mutations in ARID1A have been observed in a number of cancers. Inactivation of ARID1A has been reported to lead to increased sensitivity to inhibitors of PARP and PI3K/AKT pathway. We evaluated ARID1A alterations in gastrointestinal (GI) cancers to identify new therapeutic options. Methods: Com

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Murray, Nicole, Colton Leavitt, Noah Shepard, et al. "Abstract 2559: Genotype-phenotype associations in von hippel-lindau syndrome: Implications for screening." Cancer Research 84, no. 6_Supplement (2024): 2559. http://dx.doi.org/10.1158/1538-7445.am2024-2559.

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Abstract Introduction and Objectives: Von Hippel-Lindau (VHL) is an autosomal dominant genetic disease. The type of VHL alteration has been shown to impact downstream VHL expression and clinical phenotype. However, current screening practices do not differ based on VHL genetic subtype. We aim to define the genotype-phenotype association among an institutional cohort of VHL patients. Methods: We conducted a retrospective cohort study of 69 patients (27 families) with von Hippel-Lindau at the Huntsman Cancer Institute from 1998-2023. 55% (38/69) patients have documented VHL variants for review.

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Loret, Camille, Amandine Pauset, Pierre-Antoine Faye, et al. "CRISPR Base Editing to Create Potential Charcot–Marie–Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants." Biomedicines 12, no. 7 (2024): 1550. http://dx.doi.org/10.3390/biomedicines12071550.

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Human induced pluripotent stem cells (hiPSCs) represent a powerful tool to investigate neuropathological disorders in which the cells of interest are inaccessible, such as in the Charcot–Marie–Tooth disease (CMT), the most common inherited peripheral neuropathy. Developing appropriate cellular models becomes crucial in order to both study the disease’s pathophysiology and test new therapeutic approaches. The generation of hiPS cellular models for disorders caused by a single nucleotide variation has been significantly improved following the development of CRISPR-based editing tools. In this st

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Jiang, Yong, Shiying Dang, Li Yang, et al. "Association between homologous recombination deficiency and tumor mutational burden in lung cancer." Journal of Clinical Oncology 38, no. 15_suppl (2020): e21043-e21043. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e21043.

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e21043 Background: Homologous recombination (HR) is an important repair method for DNA double-strand damage. HR is involved with complex signaling pathways and multiple steps, including BRCA1/2. Homologous Recombination Deficiency (HRD) can be caused by the loss of function of BRCA1/2 proteins due to gene mutation. Tumor mutational burden (TMB) was indicated to involved with HRD, which is critical to the guidance of immunotherapy. Methods: Patients available with tumor specimen genomic testing for lung cancer were enrolled in this study. The sequencing library was captured using a 605-gene pan

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Dupont, Marie Alice, Camille Humbert, Céline Huber, et al. "Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion." Human Molecular Genetics 28, no. 16 (2019): 2720–37. http://dx.doi.org/10.1093/hmg/ddz091.

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Abstract Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have previously been associated with a spectrum of diseases collectively termed ciliopathies. Ciliopathies relate to defects in the formation or function of the cilium, a sensory or motile organelle present on the surface of most cell types. IFT52 is a key component of the IFT-B complex and ensures the interaction of the two subcomplexes, IFT-B1 and IFT-B2. Here, we report novel IFT52 biallelic mutations in cases with a short-rib thoracic dysplasia (SRTD) or a congenital anomaly of kidney and urinar

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Dai, Charles, Haley Barnes, Arielle Medford, et al. "Abstract PO2-13-02: Detection of SPEN mutations in advanced breast cancer by circulating tumor cell-free DNA." Cancer Research 84, no. 9_Supplement (2024): PO2–13–02—PO2–13–02. http://dx.doi.org/10.1158/1538-7445.sabcs23-po2-13-02.

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Abstract Background: Alterations in the SPEN gene are rare in primary breast cancer (~3%, ref: TCGA). SPEN is a hormone-inducible transcriptional repressor with known functions in orchestrating X-inactivation in females. Additionally, SPEN has been implicated as a potential estrogen receptor co-repressor and molecular partner of NCOR2 as well as epigenetic modifiers such as KMT2D and HDACs via C-terminal interactions. SPEN loss-of-function is associated with tamoxifen resistance in preclinical models. However, the landscape of SPEN alterations in advanced breast cancer remains poorly described

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Murray, Nicole. "Genotype-phenotype associations in Von-Hippel Lindau Syndrome: implications for screening." Oncologist 29, Supplement_1 (2024): S16. http://dx.doi.org/10.1093/oncolo/oyae181.024.

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Abstract Background Von Hippel-Lindau (VHL) is an autosomal dominant genetic disease with an estimated incidence of 1:36,000. The type of germline VHLI alteration has been shown to impact downstream VHL expression and clinical phenotype. However, current screening practices do not differ based on VHL genomic subtype. We aim to assess genotype-phenotype association among an institutional cohort of VHL patients. Methods We conducted a retrospective cohort study of 69 patients (27 families) at the University of Utah and Huntsman Cancer Institute from 1998- December 2023. 41 patients had documente

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Lobbous, Mina, ZacK Tucker, Elizabeth Coffee, and Louis Nabors. "PATH-35. RETROSPECTIVE ANALYSIS OF 145 PATIENTS WITH GLIOBLASTOMA; CORRELATING MOLECULAR ALTERATION INCIDENCE WITH DEMOGRAPHICS, TUMOR LOCATION, AND PROGNOSIS." Neuro-Oncology 21, Supplement_6 (2019): vi150—vi151. http://dx.doi.org/10.1093/neuonc/noz175.631.

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Abstract Glioblastoma is the most common and most aggressive primary brain tumor in adults. Glioblastoma was the first neoplasm to be systemically studied by The Cancer Genome Atlas and is one of the most molecularly well-characterized tumors in humans. Molecular profiling of glioblastoma is increasingly available and had led to the identifications of multiple prognostic factors as well as potential actionable targets for novel therapies. We identified 145 patients diagnosed with glioblastoma whose tumor tissue was analyzed using next generation sequencing (NGS). The NGS was performed using va

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Chang, Eric, Jill Tsai, and Bora Lim. "Abstract P5-05-03: Characterization of the genomic landscape of breast carcinoma patients with NF1 alterations using comprehensive cell-free tumor DNA next-generation sequencing." Cancer Research 83, no. 5_Supplement (2023): P5–05–03—P5–05–03. http://dx.doi.org/10.1158/1538-7445.sabcs22-p5-05-03.

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Abstract Background: NF1 (neurofibromin type 1) encodes neurofibromin, and is commonly altered in many cancers, including breast cancer. NF1 suppresses breast cancer by not only negatively regulating RAS signaling but also by independently acting as a transcriptional co-repressor of the estrogen receptor (ER). In this study, we analyzed the genomic landscape of patients with NF1 alterations from a large genomic database to define what unique patient characteristics were associated with NF1 alterations. Methods: Retrospective analysis of the Guardant Health database based on samples from the c

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Peng, Qiongling, Ying Cui, Jin Wu та ін. "A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN)". Heliyon 10, № 9 (2024): e30438. http://dx.doi.org/10.1016/j.heliyon.2024.e30438.

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Daniel, Sugganth, Erica Gornstein, Garrett Michael Frampton, et al. "BRCA1/2 reversion mutations in prostate cancer identified from clinical tissue and liquid biopsy samples." Journal of Clinical Oncology 35, no. 15_suppl (2017): 5024. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.5024.

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5024 Background: Prostate tumors with genomic alterations (GA) in BRCA1 or BRCA2 ( BRCA) may be sensitive to treatment with PARP inhibitors (PARPi). However, secondary reversion mutations (revGA) can arise that may restore BRCA function and underlie reduced sensitivity to PARPi or platinum (Pt)-based therapy. Comprehensive genomic profiling (CGP), using either tissue or liquid biopsies, can detect the variety of clinically relevant revGA that can arise. Methods: DNA extracted from FFPE tumor tissue or blood samples obtained during routine clinical care for 1911 patients with predominantly rela

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Babenko, Vladimir, Olga Redina, Dmitry Smagin, Irina Kovalenko, Anna Galyamina, and Natalia Kudryavtseva. "Elucidation of the Landscape of Alternatively Spliced Genes and Features in the Dorsal Striatum of Aggressive/Aggression-Deprived Mice in the Model of Chronic Social Conflicts." Genes 14, no. 3 (2023): 599. http://dx.doi.org/10.3390/genes14030599.

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Both aggressive and aggression-deprived (AD) individuals represent pathological cases extensively studied in psychiatry and substance abuse disciplines. We employed the animal model of chronic social conflicts curated in our laboratory for over 30 years. In the study, we pursued the task of evaluation of the key events in the dorsal striatum transcriptomes of aggression-experienced mice and AD species, as compared with the controls, using RNA-seq profiling. We evaluated the alternative splicing-mediated transcriptome dynamics based on the RNA-seq data. We confined our attention to the exon ski

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Lobón-Iglesias, María Jesús, Ingrid Laurendeau, Léa Guerrini-Rousseau, et al. "NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation." Neuro-Oncology Advances 2, Supplement_1 (2019): i98—i106. http://dx.doi.org/10.1093/noajnl/vdz054.

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Abstract Background Pediatric neurofibromatosis type 1 (NF1)–associated optic pathway gliomas (OPGs) exhibit different clinico-radiological features, treatment, and outcome compared with sporadic OPGs. While NF1-associated OPGs are caused by complete loss-of-function of the NF1 gene, other genetic alterations of the RAS-MAPK pathway are frequently described in the sporadic cases. We identified a group of patients who presented OPGs with typical radiological features of NF1-associated OPGs but without the NF1 diagnostic criteria. We aim to investigate into the possible molecular mechanisms unde

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Nibourel, Olivier, Olivier Kosmider, Meyling Cheok, et al. "Association of TET2 Alterations with NPM1 Mutations and Prognostic Value in De Novo Acute Myeloid Leukemia (AML)." Blood 114, no. 22 (2009): 163. http://dx.doi.org/10.1182/blood.v114.22.163.163.

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Abstract Abstract 163 In acute myeloid leukemia (AML), both cytogenetic and molecular abnormalities are strongly associated with prognosis. In particular, in cytogenetically normal AML (CN-AML), FLT3-ITD (internal tandem duplication) carries adverse prognostic factor whereas NPM1 or CEBPA mutations are associated with favorable outcome. Recently, mutations of the ten eleven translocation 2 gene (TET2) have been reported myeloid neoplasms. We evaluated the frequency and prognostic value of TET2 alterations, in a cohort of 111 de novo AML patients. We studied 111 patients aged between 15 years a

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Wang, Fei Jun, and Lynn S. Ripley. "The Spectrum of Acridine Resistant Mutants of Bacteriophage T4 Reveals Cryptic Effects of the tsL141 DNA Polymerase Allele on Spontaneous Mutagenesis." Genetics 148, no. 4 (1998): 1655–65. http://dx.doi.org/10.1093/genetics/148.4.1655.

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Abstract Mutations in the ac gene of bacteriophage T4 confer resistance to acridine-inhibition of phage development. Previous studies had localized the ac gene region; we show that inactivation of T4 Open Reading Frame 52.2 confers the Acr phenotype. Thus, 52.2 is ac. The resistance mechanism is unknown. The ac gene provides a convenient forward mutagenesis assay. Its compact size (156 bp) simplifies mutant sequencing and diverse mutant types are found: base substitutions leading to missense or nonsense codons, inframe deletions or duplications within the coding sequence, deletion or duplicati

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Danziger, Natalie, Elise C. Kohn, Julia C. F. Quintanilha, Gerald Li, Julia A. Elvin, and Douglas I. Lin. "Gynecologic-cancer analysis of ARID1A alterations detected in tissue and liquid biopsies." Journal of Clinical Oncology 41, no. 16_suppl (2023): 5593. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.5593.

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5593 Background: The tumor suppressor gene ARID1A is an emerging target for new cancer treatment strategies including ATR inhibition. This study aimed to describe the landscape of ARID1A alterations ( ARID1Amut) in gynecologic malignancies. Methods: Patients (pts) with a diagnosis of ovarian (OC) or uterine cancer (UC) of different histologies and comprehensive genomic profiling (CGP) by Foundation Medicine Inc. were included in this study. CGP of solid tissue biopsies (Tbx; FoundationOneCDx) included evaluation of genomic loss of heterozygosity (gLOH; gLOH-high as ≥16% as validated in OC), mi

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Seipel, Katja, Nuria Z. Veglio, Henning Nilius, Barbara Jeker, Ulrike Bacher, and Thomas Pabst. "Rising Prevalence of Low-Frequency PPM1D Gene Mutations after Second HDCT in Multiple Myeloma." Current Issues in Molecular Biology 46, no. 8 (2024): 8197–208. http://dx.doi.org/10.3390/cimb46080484.

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Multiple myeloma (MM) first-line treatment algorithms include immuno-chemotherapy (ICT) induction, high-dose chemotherapy (HDCT) and autologous stem cell transplant (ASCT) consolidation, followed by lenalidomide maintenance. After these initial therapies, most patients suffer a disease relapse and require subsequent treatment lines including ICT, additional HDCT and ASCT, or novel immunotherapies. The presence of somatic mutations in peripheral blood cells has been associated with adverse outcomes in a variety of hematological malignancies. Nonsense and frameshift mutations in the PPM1D gene,

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Zingg, Daniel Kaspar, Jinhyuk Bhin, Julia Yemelyanenko, et al. "Abstract 3488: Truncated FGFR2 - a clinically actionable oncogene in multiple cancers." Cancer Research 83, no. 7_Supplement (2023): 3488. http://dx.doi.org/10.1158/1538-7445.am2023-3488.

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Abstract Human cancers frequently bear driver alterations in genes encoding receptor tyrosine kinases (RTKs), which has led to effective therapeutics targeting oncogenic signaling of RTK variants. Somatic hotspot mutations and structural amplifications and fusions affecting fibroblast growth factor receptor 2 (FGFR2) likewise occur in multiple tumor types including breast cancer. However, clinical responses to FGFR inhibitors have remained variable, emphasizing a need to better understand which FGFR2 alterations are oncogenic and therapeutically targetable. We applied transposon-based screenin

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Bouayed Abdelmoula, N., and B. Abdelmoula. "Behavioral signs of CHARGE syndrome and CHD7 mutational spectrum." European Psychiatry 66, S1 (2023): S352. http://dx.doi.org/10.1192/j.eurpsy.2023.767.

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IntroductionCHARGE syndrome is a genetic entity caused by mutations in the chromodomain helicase DNA-binding protein 7 gene (CHD7) at 8q12.1. There are pleiotropic signs among individuals with this disorder. Diagnosis is clinical using medical criteria. CHD7 gene mutations are usually found in 90% of affected patients.ObjectivesThe aim of this study was to report behavioral signs of CHARGE syndrome and their phenotype-genotype correlations.MethodsFour Tunisian males from Sfax (Tunisia) with clinical features suggestive of CHARGE syndrome were examined at our genetic counselling at the medical

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McIntyre, J. F., B. Smith-Sorensen, S. H. Friend, et al. "Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma." Journal of Clinical Oncology 12, no. 5 (1994): 925–30. http://dx.doi.org/10.1200/jco.1994.12.5.925.

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PURPOSE We investigated the possibility that a significant proportion of children with osteosarcoma harbor germline mutations of the p53 tumor suppressor gene and, therefore, this subgroup of pediatric cancer patients should be considered for large-scale predictive testing. PATIENTS AND METHODS Genomic DNA extracted from peripheral-blood leukocytes from 235 unselected children with osteosarcoma from 33 institutions were screened for the presence of germline p53 mutations using constant denaturant gel electrophoresis (CDGE). Exons 5 through 8 were evaluated in all patients and exon 2 and exon 9

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Żołądek, Teresa, Anna Tobiasz, Gabriela Vaduva, Magda Boguta, Nancy C. Martin, and Anita K. Hopper. "MDP1, a Saccharomyces cerevisiae Gene Involved in Mitochondrial/Cytoplasmic Protein Distribution, Is Identical to the Ubiquitin-Protein Ligase Gene RSP5." Genetics 145, no. 3 (1997): 595–603. http://dx.doi.org/10.1093/genetics/145.3.595.

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Alteration of the subcellular distribution of Mod5p-I, a tRNA modification enzyme, member of the sorting isozyme family, affects tRNA-mediated nonsense suppression. Altered suppression efficiency was used to identify MDP genes, which, when mutant, change the mitochondrial/cytosolic distribution of Mod5p-I,KR6. MDP2 is the previously identified VRP1, which encodes verprolin, required for proper organization of the actin cytoskeleton. MDP3 is identical to PAN1, which encodes a protein involved in initiation of translation and actin cytoskeleton organization. We report here the cloning and charac

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Rücker, Frank G., Richard F. Schlenk, Lars Bullinger, et al. "In Acute Myeloid Leukemia with Complex Karyotype TP53 Alterations Are Associated with Specific Genomic Aberrations and Predict Inferior Survival." Blood 114, no. 22 (2009): 2632. http://dx.doi.org/10.1182/blood.v114.22.2632.2632.

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Abstract Abstract 2632 Poster Board II-608 In acute myeloid leukemia (AML) complex karyotype is defined as the presence of ≥3 chromosome abnormalities in the absence of one of the chromosomal rearrangements listed in the category “AML with recurrent genetic abnormalities” (WHO 2008). This subset of AML accounts for approximately 10 to 15 % of all AML and it is characterized by a very poor prognosis. To identify novel genomic regions of interest in this AML subgroup, we recently applied microarray-based techniques (array-comparative genomic hybridization [CGH] and single nucleotide polymorphism

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Zanella, Alberto, Paola Bianchi, Luciano Baronciani, et al. "Molecular Characterization of PK-LR Gene in Pyruvate Kinase–Deficient Italian Patients." Blood 89, no. 10 (1997): 3847–52. http://dx.doi.org/10.1182/blood.v89.10.3847.3847_3847_3852.

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We studied the PK-LR gene in 15 unrelated Italian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase (PK) deficiency. Fourteen different mutations were detected among 26 mutated alleles identified: a five-nucleotide (nt) deletion (227 to 231), two splice-site (1269C and IVS3(−2)c), 10 missense (514C, 787T, 823A, 993A, 994A, 1168A, 1456T, 1529A, 1552A, and 1594T) and one nonsense mutation(s) (721T). Eight of these (deletion 227-231, 1269C, IVS3(−2)c, 514C, 787T, 823A, 1168A, and 1552A) were novel. Moreover, a new polymorphic site was detected in the 3′ untrans

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Li, Ke, Fabien Zoulim, Christian Pichoud, et al. "Critical Role of the 36-Nucleotide Insertion in Hepatitis B Virus Genotype G in Core Protein Expression, Genome Replication, and Virion Secretion." Journal of Virology 81, no. 17 (2007): 9202–15. http://dx.doi.org/10.1128/jvi.00390-07.

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ABSTRACT Frequent coinfection of hepatitis B virus genotype G with genotype A suggests that genotype G may require genotype A for replication or transmission. In this regard, genotype G is unique in having a 12-amino-acid extension in the core protein due to a 36-nucleotide insertion near the core gene translation initiation codon. The insertion alters base pairing in the lower stem of the pregenome encapsidation signal, which harbors the core gene initiator, and thus has the potential to affect both core protein translation and pregenomic RNA encapsidation. Genotype G is also unusual for poss

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Fil, Daniel, Balu K. Chacko, Robbie Conley, et al. "Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia." Disease Models & Mechanisms 13, no. 7 (2020): dmm045229. http://dx.doi.org/10.1242/dmm.045229.

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ABSTRACTFriedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeat sequences in intron 1 of FXN, whereas a fraction of patients are compound heterozygotes, with a missense or nonsense mutation in one FXN allele and expanded GAAs in the other. A prevalent missense mutation among FRDA patients changes a glycine at position 130 to valine (G130V). Herein, we report generation of the first mouse model harboring an Fxn point mutation. Chan

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Vivenza, Daniela, Michela Godi, Maria Felicia Faienza, et al. "A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing." European Journal of Endocrinology 164, no. 5 (2011): 705–13. http://dx.doi.org/10.1530/eje-11-0047.

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ObjectiveMutations in HESX1 represent a rare cause of GH deficiency (GHD) associated with a broad spectrum of other anomalies. We searched for causative mutations in a cohort of 244 Italian patients affected by combined and isolated GHD (IGHD).MethodsThe HESX1 gene-coding region and exon–intron boundaries were screened by denaturing HPLC scanning.ResultsA novel mutation adjacent to the invariant donor splice site of intron 2 (c.357+3G>A) was identified at the heterozygous state in an IGHD patient. The in vitro and in vivo mRNA analysis of the wild-type HESX1 allele revealed the presence of

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Rossi, Adam, Gregory Verona, Ann Ritter, Hope Richard, India Sisler, and Zhihong Wang. "RARE-43. FAVORABLE OUTCOME OF A YOUNG GIRL WITH RECURRENT METASTATIC PINEOBLASTOMA ASSOCIATED WITH A DICER1 MUTATION." Neuro-Oncology 22, Supplement_3 (2020): iii451—iii452. http://dx.doi.org/10.1093/neuonc/noaa222.753.

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Abstract Pineoblastomas have been thought to portend a poor prognosis, especially in younger children or those with metastases. Long term survivors after relapse, especially for those with metastatic disease are rare. We report a young girl with a DICER1 mutation who survived recurrent metastatic pineoblastoma. She was initially diagnosed at the age of 3 with a localized pineoblastoma, underwent gross total surgical resection, and received high dose chemotherapy with autologous stem cell transplant per COG ACNS0334 without radiation therapy. 16 months after completion of treatment, she relapse

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Wei, JIA, Min Xiao, Zekai Mao, et al. "Outcomes of Relapsed/Refractory Aggressive B-Cell Non-Hodgkin Lymphoma (r/r B-NHL) Patients with TP53 Gene Disruption Treated with CD19/22 Cocktail CAR T-Cell Therapy Alone or Incorporated with Autologous Stem Cell Transplantation (ASCT)." Blood 138, Supplement 1 (2021): 94. http://dx.doi.org/10.1182/blood-2021-147278.

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Abstract Disruption of TP53 gene occur in a subset of patients with refractory/relapse B-cell non-Hodgkin lymphoma (r/r B-NHL) and confer inferior prognosis. Recently, we reported the safety and efficacy of two clinical trials, administrating CAR T-cell infusion either alone (Trail A) or incorporated in ASCT (Trial B), in the treatment of r/r B-NHL. To address the prognostic impact of TP53 alterations on r/r aggressive B-cell lymphoma when treated with CAR T-cell therapy, in the present study, we systemically evaluate the therapeutic effects among the patients with TP53 alterations in these 2

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Hosono, Naoko, Hideki Makishima, Bartlomiej Przychodzen, et al. "Spliceosomal Gene LUC7L2 Mutation Causes Missplicing and Alteration Of Gene Expression In Myeloid Neoplasms." Blood 122, no. 21 (2013): 470. http://dx.doi.org/10.1182/blood.v122.21.470.470.

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While deletion of the long arm of chromosome 7 (del(7q)) along with monosomy 7 (-7) are common in myeloid neoplasms and especially MDS, their associated pathogenetic consequences and the genes responsible for the clinico-morphologic phenotypes remain unknown. To characterize the molecular defects resultant from del(7q), we applied a combined analysis of SNP-array karyotyping, whole exome NGS, targeted deep NGS and deep whole RNA NGS to facilitate identification of somatic mutations, loss of heterozygosity (LOH) and haploinsufficiency. First, using a cohort of 1595 patients, we precisely define

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Navrkalova, Veronika, Ludmila Sebejova, Jana Zemanova, et al. "Defects of ATM Gene Involving Mutation Lead to Complete Elimination of ATM Function in Chronic Lymphocytic Leukemia." Blood 120, no. 21 (2012): 3902. http://dx.doi.org/10.1182/blood.v120.21.3902.3902.

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Abstract Abstract 3902 Abnormalities of ATM gene are frequent in chronic lymphocytic leukemia (CLL) patients and represent important predictive and prognostic factor. ATM defects are commonly assessed through monitoring of 11q deletion (11q-) using I-FISH. However, 11q- does not mean ATM inactivation if the other allele remains intact, and there are patients who harbor ATM mutation(s) without accompanying 11q-. In CLL, studies addressing the presence of ATM mutations and their impact on ATM protein function are rare due to the extreme gene size and lack of well characterized (hot-spot) mutatio

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Zanella, Alberto, Paola Bianchi, Luciano Baronciani, et al. "Molecular Characterization of PK-LR Gene in Pyruvate Kinase–Deficient Italian Patients." Blood 89, no. 10 (1997): 3847–52. http://dx.doi.org/10.1182/blood.v89.10.3847.

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Abstract:

Abstract We studied the PK-LR gene in 15 unrelated Italian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase (PK) deficiency. Fourteen different mutations were detected among 26 mutated alleles identified: a five-nucleotide (nt) deletion (227 to 231), two splice-site (1269C and IVS3(−2)c), 10 missense (514C, 787T, 823A, 993A, 994A, 1168A, 1456T, 1529A, 1552A, and 1594T) and one nonsense mutation(s) (721T). Eight of these (deletion 227-231, 1269C, IVS3(−2)c, 514C, 787T, 823A, 1168A, and 1552A) were novel. Moreover, a new polymorphic site was detected in the 3

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