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Journal articles on the topic 'Compound mutation'

Author: Grafiati

Published: 9 March 2023

Last updated: 31 July 2025

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1

Li, Jin, Zhenyu Yan, Agus Darwanto, et al. "Phasing Analysis Of TKI Resistance Mutations In The BCR-ABL1 Kinase Domain and Neighboring Domains Using Next-Generation Sequencing." Blood 122, no. 21 (2013): 3817. http://dx.doi.org/10.1182/blood.v122.21.3817.3817.

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Abstract Background Many CML patients treated with tyrosine kinase inhibitors (TKIs) eventually develop resistance as a result of ABL1 kinase domain (KD) mutations, and sequential treatment with different TKIs may select for multiple BCR-ABL1 mutations. Whether multiple mutations arise in distinct clones (in trans, or polyclonal mutations) or instead are present within the same BCR-ABL1 molecule (in cis, or compound mutations), has been shown to have important implications with respect to TKI sensitivities (Eide, C.A. et al., Blood 2011). Distinguishing between polyclonal and compound mutation

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Bhatwadekar, Seema S., and Parth Shah. "Mutational Phasing: Clinical Relevance in Tyrosine Kinase Domain Mutations Using Next Generation Sequencing in Chronic Myeloid Leukemia." Blood 132, Supplement 1 (2018): 4269. http://dx.doi.org/10.1182/blood-2018-99-114130.

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Abstract Background: Tyrosine kinase mutation analysis in BCR/ABL1 gene is important for management of patients with chronic myeloid leukemia. Sanger Sequencing has been the mainstay for testing with Next Generation Sequencing (NGS) now becoming the primary technology. In this study we show a comparison between NGS versus Sanger Seqencing based ABL kinase domain mutation analysis with a likely trend of clinical relevance based on a compound versus polyclonal state of mutational distribution which may also need to be considered for patient management and therapy. Methodology: A total of 213 Ima

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3

Chen, Jiaqi, Hongxing Liu, Fang Wang, et al. "Dynamic Evolution of Ponatinib Resistant BCR-ABL1 T315 and Compound Mutations." Blood 134, Supplement_1 (2019): 3796. http://dx.doi.org/10.1182/blood-2019-129579.

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The third-generation tyrosine kinase inhibitor (TKI) ponatinib exhibits activity against all common BCR-ABL1 kinase domain (KD) single mutations, including the highly resistant gatekeeper T315I. However, the drug response is variable and the clinical resistance mutations may still befall with few reports to date. We performed next-generation sequencing (NGS) detection of BCR-ABL1 KD mutations in sequential samples of three BCR-ABL1-positive leukemia patients who developed clinical resistance to ponatinib, to explore the dynamic evolution of ponatinib mutations. Case 1 was diagnosed as chronic

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Mian, Afsar Ali, Hadiqa Raees, Sujjawal Ahmad, Oliver Ottmann, and El-Nasir M. A. Lalani. "Arsenic Trioxide Suppresses Growth of BCR-ABL1 Positive Cells with "Gatekeeper" or Compound Mutation." Blood 138, Supplement 1 (2021): 4346. http://dx.doi.org/10.1182/blood-2021-154511.

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Abstract Introduction: Chronic myeloid leukemia (CML) and 30% of adult acute lymphatic leukemia (ALL) are characterized by the Philadelphia chromosome (Ph +), having a (9;22) chromosomal translocation. The BCR-ABL1 fusion protein is the hallmark of Ph + leukemia. BCR-ABL1 is characterized by constitutively activated ABL1 tyrosine kinase activity that determines its transformation potential. Tyrosine kinase inhibitors (TKI) have greatly improved the overall prognosis of these diseases. However, unsatisfactory responses in advanced disease stages, resistance and long-term tolerability of BCR-ABL

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Kim, Soo-Hyun, Soo Young Choi, Sung-Eun Lee, et al. "Dynamics and Characteristics of BCR-ABL1 Multiple Mutations in Tyrosine Kinase Inhibitor Resistant CML." Blood 120, no. 21 (2012): 1677. http://dx.doi.org/10.1182/blood.v120.21.1677.1677.

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Abstract Abstract 1677 Background: BCR-ABL1 kinase domain (KD) point mutation causes resistance to tyrosine kinase inhibitors (TKI) in CML patients through impaired binding of TKI to the target site. One of the characteristics of patients with BCR-ABL1 kinase domain point mutations is the fact that some patients have multiple mutations. However there have not been many studies showing that data about clinical relevance or dynamics of multiple mutation during CML treatment. Methods: Since 2002, 414 CML patients were screened for mutation analysis due to sign of resistance to TKI including imati

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Jung, Hyun Ae, Sehhoon Park, Jong-Mu Sun, et al. "Treatment and Outcomes of Metastatic Non-Small-Cell Lung Cancer Harboring Uncommon EGFR Mutations: Are They Different from Those with Common EGFR Mutations?" Biology 9, no. 10 (2020): 326. http://dx.doi.org/10.3390/biology9100326.

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Approximately 10% of the epidermal growth factor receptor (EGFR) mutations in non-small-cell lung cancer (NSCLC) are uncommon EGFR mutations. Although the efficacy of second (2G) or third generation (3G) EGFR tyrosine kinase inhibitors (EGFR-TKIs) in the patients with uncommon EGFR mutation has been proven, further studies are warranted to define the optimal treatment approach for uncommon EGFR mutation-positive NSCLC. This study retrospectively investigated the treatment patterns and outcomes of patients with uncommon EGFR mutation-positive NSCLC from January 2011 to December 2019 at the Sams

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Kim, Dong-Wook, Dongho Kim, Soo-Hyun Kim, et al. "Dynamics and Characteristics of BCR-ABL Multiple Mutations In Tyrosine Kinase Inhibitor Resistant Chronic Myeloid Leukemia." Blood 116, no. 21 (2010): 3443. http://dx.doi.org/10.1182/blood.v116.21.3443.3443.

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Abstract Abstract 3443 BCR-ABL kinase domain (KD) point mutation causes resistance to tyrosine kinase inhibitors (TKI) in CML patients through impaired binding of TKI to the target site. One of the characteristics of patients with BCR-ABL kinase domain point mutations is the fact that some patients have multiple mutations. However there have not been many studies showing that data about clinical relevance or dynamics of multiple mutation during CML treatment. From January 2002 to June 2010 at Seoul St Mary's Hospital, 277 CML patients were screened for mutation analysis due to sign of resistan

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8

Finkielstain, Gabriela P., Wuyan Chen, Sneha P. Mehta, et al. "Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency." Journal of Clinical Endocrinology & Metabolism 96, no. 1 (2011): E161—E172. http://dx.doi.org/10.1210/jc.2010-0319.

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Background: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. Methods: Targeted CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of CYP21A2 were sequenced in patients in whom positive mutations were not identified by targeted mutation analysis. Copy number variation and deletions were determined using Southern blot anal

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9

Goffinet, Samantha, Veronique Hofman, Christophe Bontoux, et al. "EGFR assessment using next generation sequencing as a reflex testing on surgically resected non-squamous non-small cell lung carcinoma." Journal of Clinical Oncology 41, no. 16_suppl (2023): 8539. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.8539.

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8539 Background: EGFR status assessment is mandatory in early stage (IB-IIIA) non-squamous non-small cell lung carcinoma (NS-NSCLC), but whether NGS methods should be used as reflex testing for this evaluation in daily practice is controversial. However, co-occuring mutations, notably TP53 mutations, may have an impact on tumor behavior and prognosis, and so, on future adjuvant therapeutic strategies. Methods: EGFR mutations were assessed prospectively using NGS (Oncomine Precision Assay genes panel) in 720 NS-NSCLC surgically resected between January 2021 and September 2022 in a single instit

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10

Liu, Shiguo, Shasha Zhang, Wenjie Li, et al. "Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the Thyroglobulin Gene in a Chinese Twin Family With Congenital Goiter and Hypothyroidism." Twin Research and Human Genetics 15, no. 1 (2012): 126–32. http://dx.doi.org/10.1375/twin.15.1.126.

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Mutations in the thyroglobulin (TG) gene, which has an estimated incidence of approximately 1 in 100,000 new-borns, cause autosomal recessive congenital hypothyroidism. The mutational spectrum of the TG gene and the phenotype–genotype correlations have not yet fully been established. We report a compound heterozygous mutation in the TG gene in a Chinese twin family with congenital goiter and hypothyroidism. We also describe the gene mutation associated with the genotype–phenotype of these children with congenital goiter and hypothyroidism. The whole coding sequence of the TG gene was analyzed

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Rao, Vamshi K., Christine J. DiDonato, and Paul D. Larsen. "Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases." Case Reports in Neurological Medicine 2018 (August 9, 2018): 1–5. http://dx.doi.org/10.1155/2018/8587203.

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Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreich’s ataxia and nonsense

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Yu, Ziqiang, Jian Su, Xia Bai, Zhaoyue Wang, and Changgeng Ruan. "New Compound Heterozygous Mutations of GPIIb in Patient with Glanzmann Thrombasthenia." Blood 110, no. 11 (2007): 3921. http://dx.doi.org/10.1182/blood.v110.11.3921.3921.

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Abstract Glanzmann thrombasthenia (GT) is a homozygous or compound heterozygous autosomal recessive bleeding disorder caused by the qualitative or quantitative deficiency of integrin GPIIb-IIIa, which acts as the receptor of platelet fibrinogen. Here we report a case of GT with a compound heterozygous mutation in GPIIb according to the results of flow cytometry and genetic investigation.The flow cytometry was used to measure the average amounts of integrin GPIIb-IIIa on the patient’s platelets, and all 30 exons of GPIIb were amplified and sequenced with the corresponding primers.The average fl

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13

Costa, Jean-Marc, Dominique Vidaud, Ingrid Laurendeau, et al. "Somatic mosaicism and compound heterozygosity in female hemophilia B." Blood 96, no. 4 (2000): 1585–87. http://dx.doi.org/10.1182/blood.v96.4.1585.

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Abstract Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5′ splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one. The presence of dysfunctional antigen in the latter strongly suggested that these mutations are in trans. Neither mutation was found in leukocyte DNA from the asymptomatic parents, but the mother was in somatic mosaicism for the shared splice site mutation. This case illustrates the importance of defining the phenotype and

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Costa, Jean-Marc, Dominique Vidaud, Ingrid Laurendeau, et al. "Somatic mosaicism and compound heterozygosity in female hemophilia B." Blood 96, no. 4 (2000): 1585–87. http://dx.doi.org/10.1182/blood.v96.4.1585.h8001585_1585_1587.

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Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5′ splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one. The presence of dysfunctional antigen in the latter strongly suggested that these mutations are in trans. Neither mutation was found in leukocyte DNA from the asymptomatic parents, but the mother was in somatic mosaicism for the shared splice site mutation. This case illustrates the importance of defining the phenotype and consideri

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Ma, Yongsheng, Shan Zeng, Dean D. Metcalfe, et al. "The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations." Blood 99, no. 5 (2002): 1741–44. http://dx.doi.org/10.1182/blood.v99.5.1741.

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Mutations of c-KIT causing spontaneous activation of the KIT receptor kinase are associated with sporadic adult human mastocytosis (SAHM) and with human gastrointestinal stromal tumors. We have classified KIT-activating mutations as either “enzymatic site” type (EST) mutations, affecting the structure of the catalytic portion of the kinase, or as “regulatory” type (RT) mutations, affecting regulation of an otherwise normal catalytic site. Using COS cells expressing wild-type or mutant KIT, 2 compounds, STI571 and SU9529, inhibited wild-type and RT mutant KIT at 0.1 to 1 μM but did not signific

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16

Rawat, Mukul, Gilda Padalino, Edem Adika, et al. "Quinoxaline-based anti-schistosomal compounds have potent anti-plasmodial activity." PLOS Pathogens 21, no. 2 (2025): e1012216. https://doi.org/10.1371/journal.ppat.1012216.

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The human pathogens Plasmodium and Schistosoma are each responsible for over 200 million infections annually, especially in low- and middle-income countries. There is a pressing need for new drug targets for these diseases, driven by emergence of drug-resistance in Plasmodium and an overall dearth of drug targets against Schistosoma. Here, we explored the opportunity for pathogen-hopping by evaluating a series of quinoxaline-based anti-schistosomal compounds for their activity against P. falciparum. We identified compounds with low nanomolar potency against 3D7 and multidrug-resistant strains.

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Khorashad, Jamshid, Todd W. Kelley, Philippe Szankasi, et al. "Frequency and Clonality of BCR-ABL Compound Mutations in Chronic Myeloid Leukemia,." Blood 118, no. 21 (2011): 3744. http://dx.doi.org/10.1182/blood.v118.21.3744.3744.

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Abstract Abstract 3744 Background: BCR-ABL kinase domain (KD) mutations are a common mechanism of chronic myeloid leukemia (CML) resistance to tyrosine kinase inhibitor (TKI) therapy. It is well known that some patients harbor more than one KD mutation in the same sample, but the frequency of true compound mutations (defined as two or more mutations in the same allele) and the clonal relationships between mutant clones have not been established. Methods: The first group of samples (Group 1) was selected based on evidence of more than one BCR-ABL KD mutation by Sanger sequencing. Samples from a

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Yamazaki, Tomio, Akira Katsumi, Yoshihiro Okamoto, et al. "Two Distinct Novel Splice Site Mutations in a Compound Heterozygous Patient with Protein S Deficiency." Thrombosis and Haemostasis 77, no. 01 (1997): 014–20. http://dx.doi.org/10.1055/s-0038-1655729.

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SummaryGenetic analysis revealed two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency. The paternal mutation was a G-to-T transition at position -1 of the acceptor splice site of intron N (Mutation I), and the maternal mutation was a G-to-C transversion at position -1 of the donor splice site of intron C (Mutation II). Both splice site mutations decreased the mutated mRNA accumulation to the same extent, approximately 40% of the normal mRNA. However, the mutations were associated with different phenotypical expressions: the paternal mutant prote

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Kim, Youn Jung, Yejin Lee, Wonseon Chae, and Jung-Wook Kim. "Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta." Journal of Personalized Medicine 13, no. 10 (2023): 1494. http://dx.doi.org/10.3390/jpm13101494.

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Hereditary conditions that affect tooth enamel in quantity and/or quality are called amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom of a syndrome. An OMIM search with the term “AI” yielded 79 result entries. Mutations in the same gene cause syndromic or non-syndromic AI, depending on the nature of the mutations. In this study, we recruited two AI families and performed mutational analysis using whole-exome sequencing. The proband of family 1, with hypoplastic pitted AI and mild localized atopic dermatitis, had compound heterozygous COL17A1 mutations (patern

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Sakuma, Naoko, Hideaki Moteki, Hela Azaiez, et al. "Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss." Annals of Otology, Rhinology & Laryngology 124, no. 1_suppl (2015): 184S—192S. http://dx.doi.org/10.1177/0003489415575041.

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Objectives: We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. Methods: Two hundred twenty (220) Japanese subjects with SNHL from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment with massively parallel DNA sequencing of all known nonsyndromic hearing loss genes was performed to identify the genetic cause of hearing loss. Results: Four novel causative PTPRQ mutations were identified in 3 cases. Case 1 had progressive profound SNHL with

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Wang, Chunli, Ying Chen, Bixia Zheng, et al. "Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome." American Journal of Physiology-Renal Physiology 315, no. 4 (2018): F844—F851. http://dx.doi.org/10.1152/ajprenal.00077.2017.

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Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here, we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c.1755A>G). Compound heterozygosity was confirmed by amplifying and sequencing the patientʼs genomic DNA. The synonymous mutation c.1755A>G (Thr585Thr) was located at +2 bp from the 5′ splice donor site in exon 15. Further transcript analysi

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Smith, Catherine C., Michael Brown, Jason Chin, et al. "Single Molecule Real Time (SMRT™) Sequencing Sensitively Detects Polyclonal and Compound BCR-ABL in Patients Who Relapse on Kinase Inhibitor Therapy,." Blood 118, no. 21 (2011): 3752. http://dx.doi.org/10.1182/blood.v118.21.3752.3752.

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Abstract Abstract 3752 Background: Secondary kinase domain (KD) mutations are the most well-recognized mechanism of resistance to tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia (CML) and other cancers. In some cases, multiple drug resistant KD mutations can coexist in an individual patient (“polyclonality”). Alternatively, more than one mutation can occur in tandem on a single allele (“compound mutations”) following response and relapse to sequentially administered TKI therapy. Distinguishing between these two scenarios can inform the clinical choice of subsequent TKI treatment.

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Zhang, Jia, and Zhao Wang. "Pedigree Gene Investigation and Parameters of NK Cell Activity, CD107a Degranulation Amd HLH Related Defective Protein Play Significant Role in the Diagnosis of Primary HLH." Blood 128, no. 22 (2016): 4876. http://dx.doi.org/10.1182/blood.v128.22.4876.4876.

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Abstract Abstract This study aims to evaluate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary HLH and explore their correlation. Twelve Chinese families of primary HLH with mutations in PRF1, UNC13D, LYST, RAB27A, SH2D1A, BIRC4 were recruited and conducted pedigree investigation, including family genetic screening, NK cell activity, CD107a degranulation and expression of HLH related defective protein. Ten patients were identified with homozygous, compound heterozygous, or hemizygous mutations in PRF1, UNC13D, RAB27A, SH2D1A and BIRC

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Kesarwani, Meenu, Zachary Kincaid, and Mohammad Azam. "DUSP1 Confers Oncogene Dependence in CSF3R Induced Leukemia." Blood 132, Supplement 1 (2018): 1341. http://dx.doi.org/10.1182/blood-2018-99-119092.

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Abstract In 2013, Maxson and colleagues reported mutations in colony stimulating factor-3 (CSF3R) from chronic neutrophilic leukemia (CNL), and atypical CML (aCML) patients. These mutations are clustered into two different regions of the receptor protein; membrane proximal region (proximal mutation) and frameshift or non-sense mutations in the cytoplasmic tail (truncation mutation). Further analysis revealed a significant majority of patients harbor both membrane-proximal and truncation mutations on the same allele (compound mutations). In vivo analysis of these mutants using mouse models reve

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Čimburová, Markéta, I. Půtová, H. Provazníková, D. Pintérová, and J. Horák. "S65C and Other Mutations in the Haemochromatosis Gene in the Czech Population." Folia Biologica 51, no. 6 (2005): 172–76. https://doi.org/10.14712/fb2005051060172.

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HFE-Iinked hereditary haemochromatosis is a common autosomal recessive disease among Caucasians. The primary pathogenetic mechanism is excessive absorption of iron, which is deposited in various organs with their subsequent damage. In 1996 the gene responsible for haemochromatosis was detected - the HFE gene and its major mutation C282Y. The discovery of further mutations followed. Two sites of point mutations in the HFE gene, C282Y and H63D, are associated with more than 80% of haemochromatosis cases. Another mutation - S65C - was detected on 8% of chromosomes of haemochromatosis patients, wh

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Porzio, O., V. Cunsolo, M. Malaponti, et al. "Divergent Phenotype of Two Siblings Human Leukocyte Antigen Identical, Affected by Nonclassical and Classical Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency." Journal of Clinical Endocrinology & Metabolism 91, no. 11 (2006): 4510–13. http://dx.doi.org/10.1210/jc.2006-0779.

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Abstract Context: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders most often caused by enzyme 21-hydroxylase deficiency. Most mutations causing enzymatic deficiency are generated by recombinations between the active gene CYP21 and the pseudogene CYP21P. Only 1–2% of affected alleles result from spontaneous mutations. The phenotype of CAH varies greatly, usually classified as classical or nonclassical, depending on variable degree in 21-hydroxylase activity. Here we report a divergent phenotype of two human leukocyte antigen identical siblings, affected by noncl

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Shao, Hongxia, Jingna Hua, Qi Wu, et al. "Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis." Canadian Respiratory Journal 2020 (May 7, 2020): 1–5. http://dx.doi.org/10.1155/2020/6507583.

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Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population. Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. Materials and Methods. Clinical samples were obtained from a Chinese family, the brother and sister with recurrent airway infections, hypoxemia and obstructive ventilatory impairment, sinusitis, clubbed fingers, salty sweat, and nasal polyposis. We performed whole-exome sequencing on the family and validated all potential va

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Ura, Hiroki, Sumihito Togi, and Yo Niida. "Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression." Biology 10, no. 4 (2021): 256. http://dx.doi.org/10.3390/biology10040256.

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There are two combinations of heterozygous mutation, i.e., in trans, which carries mutations on different alleles, and in cis, which carries mutations on the same allele. Because only in trans compound heterozygous mutations have been implicated in autosomal recessive diseases, it is important to distinguish them for clinical diagnosis. However, conventional phase analysis is limited because of the large target size of genomic DNA. Here, we performed a genetic analysis on a patient with Wilson disease, and we detected two heterozygous mutations chr13:51958362;G>GG (NM_000053.4:c.2304dup r.2

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Xu, Ying-Yang, and Yu-Xiang Zhi. "A Compound Mutation (c.953C." Allergy, Asthma & Immunology Research 10, no. 3 (2018): 285. http://dx.doi.org/10.4168/aair.2018.10.3.285.

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Van Wesenbeeck, L., E. Rondelez, M. Feyaerts, et al. "Cross-Resistance Profile Determination of Two Second-Generation HIV-1 Integrase Inhibitors Using a Panel of Recombinant Viruses Derived from Raltegravir-Treated Clinical Isolates." Antimicrobial Agents and Chemotherapy 55, no. 1 (2010): 321–25. http://dx.doi.org/10.1128/aac.01733-09.

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ABSTRACTThe integrase inhibitor raltegravir (RAL) is currently used for the treatment of both treatment-naïve and treatment-experienced HIV-1-infected patients. Elvitegravir (EVG) is in late phases of clinical development. Since significant cross-resistance between RAL and EVG is observed, there is a need for second-generation integrase inhibitors (INIs) with a higher genetic barrier and limited cross-resistance to RAL/EVG. A panel of HIV-1 integrase recombinants, derived from plasma samples from raltegravir-treated patients (baseline and follow-up samples), were used to study the cross-resist

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Byeon, Yeji, Seung Hee Jung, Daseul Yoon, et al. "Abstract 5477: Compound A, a fourth-generation allosteric inhibitor, a potent and highly selective EGFR with L858R activating and C797S resistance mutations for the treatment of NSCLC." Cancer Research 82, no. 12_Supplement (2022): 5477. http://dx.doi.org/10.1158/1538-7445.am2022-5477.

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Abstract The L858R activating mutation in Epidermal Growth Factor Receptor (EGFR) accounts for approximately 40% of EGFR-mutant non-small cell lung cancer (NSCLC). These patients receive targeted therapy targeting EGFR mutation. To date all approved EGFR tyrosine kinase inhibitors (TKIs) are ATP competitive inhibitors, inevitably lead to drug resistance and to disease progress. Osimertinib is a third-generation EGFR TKI that selectively inhibits both EGFR TKI-sensitizing (L858R) mutation and T790M mutation that confers acquired resistance to first- and second-generation EGFR-TKIs. The patients

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Krone, Nils, Andreas Braun, Adelbert Anton Roscher, Dietrich Knorr, and Hans Peter Schwarz. "Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany." Journal of Clinical Endocrinology & Metabolism 85, no. 3 (2000): 1059–65. http://dx.doi.org/10.1210/jcem.85.3.6441.

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Abstract Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. CAH is most often caused by deficiency of steroid 21-hydroxylase. The frequency of CYP21-inactivating mutations and the genotype-phenotype relationship were characterized in 155 well defined unrelated CAH patients. We were able to elucidate 306 of 310 disease-causing alleles (diagnostic sensitivity, 98.7%). The most frequent mutation was the intron 2 splice site mutation (30.3%), followed by gene deletions (20.3%), the I172N mutation (19.7%) and large gene conversions (7.1%). Five point mutations were de

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Chen, Jiaqi, Qihui Chen, Huan Hu, et al. "High-Accurate Third-Generation Sequencing to Comprehensively Decipher BCR::ABL1 TKIs in-Cis Resistant Mutations." Blood 144, Supplement 1 (2024): 3595. https://doi.org/10.1182/blood-2024-202681.

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Background Drug-resistant mutations in the ABL1 kinase domain (KD) of BCR::ABL1 are primary mechanisms of resistance to tyrosine kinase inhibitor (TKI) therapy in Ph-positive leukemia. These mutations alter the conformation of ABL1 within BCR::ABL1, impairing TKI and thus diminishing their anti-leukemia efficacy. Our previous studies, presented at the 61st and 62nd ASH Annual Meeting, demonstrated the superiority of next-generation sequencing (NGS) over Sanger sequencing for detecting BCR::ABL1-KD mutations. NGS offers higher sensitivity, accurate mutation frequency determination, and the abil

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Qiu, Yue, Sen Chen, Le Xie, et al. "Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families." Neural Plasticity 2019 (November 18, 2019): 1–7. http://dx.doi.org/10.1155/2019/9765276.

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Auditory neuropathy spectrum disorder (ANSD), also called auditory neuropathy (AN), is a unique type of prelingual hearing impairment. Up to 10% of deaf infants and children are affected by this disease. Mutation of the OTOF gene which encodes otoferlin is the common cause of congenital nonsyndromic ANSD. To date, over 110 mutations have been identified in the OTOF gene according to the Human Gene Mutation Database (HGMD). Here, next-generation sequencing (NGS) revealed that the compound heterozygous mutations c.4748G>A/c.2523+1G>T and c.5248G>C/c.5098G>C of the OTOF gene were pres

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Ji, Yinghua, Jin Wang, Xiangli Meng, et al. "Molecular characteristics of EGFR exon20 mutations in NSCLC patients." Journal of Clinical Oncology 40, no. 16_suppl (2022): e21011-e21011. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e21011.

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e21011 Background: EGFR exon 20 mutations are associated with acquired resistance to EGFR tyrosine kinase inhibitors (TKIs). EGFR exon 20 mutations are usually not present alone, suggesting a more complex subtype of exon 20 mutations. Methods: In this study, we retrospectively analyzed the different subtypes and compound mutation profiles of EGFR 20 mutations. A total of 1,233 NSCLC patients’ tumors were collected and the mutations were detected by next-generation sequencing (NGS) from May 2020 to June 2021. Results: A total of 415 NSCLC patients' tumors harbored EGFR exon 20 mutations, accoun

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Bauer, Lisa, Roberto Manganaro, Birgit Zonsics, et al. "Rational design of highly potent broad-spectrum enterovirus inhibitors targeting the nonstructural protein 2C." PLOS Biology 18, no. 11 (2020): e3000904. http://dx.doi.org/10.1371/journal.pbio.3000904.

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There is a great need for antiviral drugs to treat enterovirus (EV) and rhinovirus (RV) infections, which can be severe and occasionally life-threatening. The conserved nonstructural protein 2C, which is an AAA+ ATPase, is a promising target for drug development. Here, we present a structure-activity relationship study of a previously identified compound that targets the 2C protein of EV-A71 and several EV-B species members, but not poliovirus (PV) (EV-C species). This compound is structurally related to the Food and Drug Administration (FDA)-approved drug fluoxetine—which also targets 2C—but

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Ray, Rudra, Ankita Biswas, Sunistha Bhattacharjee, and Maitreyee Bhattacharyya. "Phenotypes of Hb Okayama Mutation." Blood 132, Supplement 1 (2018): 4898. http://dx.doi.org/10.1182/blood-2018-99-118079.

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Abstract Introduction: Since its first detection in the year of 1983 very little has been reported about Hb Okayama mutation. Hb Okayama, reported as a silent mutation (Globin Gene Server Hb Var ID: 220, dbSNP rs713040), happened to be detected in the process of HPLC analysis for the measurement of HbA1c in Japanese diabetic patient [1,2,3]. Till date only few Hb Okayama has been reported from Japanese and Austrian ethnicity [2,3,4]. Its phenotypes and co-inheritance with other beta globin gene mutation is not yet known. In this study we report phenotypes of Hb Okayama in heterozygous as well

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Yang, Wenyu, Yunlong Chen, Jingliao Zhang, and Xiaofan Zhu. "Analysis of Methylation Level and Clinical Characteristics of Juvenile Myelomonocytic Leukemia." Blood 142, Supplement 1 (2023): 6421. http://dx.doi.org/10.1182/blood-2023-184670.

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Objective: juvenile myelomonocytic leukemia (Juvenile myelomonocytic leukemia JMML) is a rare clonal disease of hematopoietic stem cells in young children. The response to chemotherapy is poor, the prognosis is poor, and a few patients can be relieved spontaneously. The level of methylation is closely related to the prognosis of JMML. In this study, the distribution characteristics and clinical indexes of JMML methylation were analyzed retrospectively. Methods: the newly diagnosed JMML from 2008.1 to 2022.11 in our center was selected as the research object. The samples were detected for DNA m

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Dange, Nimisha S., Shruti A. Mondkar, Vaman Khadilkar, and Anuradha V. Khadilkar. "A case of infantile hypophosphatasia: Phenotypic findings of a compound heterozygous inheritance with a novel mutation." Wadia Journal of Women and Child Health 2 (May 14, 2023): 26–29. http://dx.doi.org/10.25259/wjwch_5_2023.

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We report the case of a 9-month infant who presented with failure to thrive and bony deformities, mimicking a ricket-like picture. Biochemical parameters showed hypercalcemia, low serum alkaline phosphatase, normal serum phosphorus, magnesium, and parathormone levels. Ultrasound revealed nephrocalcinosis. Clinical exome sequencing revealed infantile hypophophatasia with two compound heterozygous mutations in exon 6 (mutation being novel) and 12. To the best of our knowledge, compound heterozygous mutations in exon 9 and exon 12 have presented with pyridoxine responsive seizure (PRS) along with

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Smith, Catherine C., Michael Brown, Wendy T. Parker, et al. "Single Molecule Real Time (SMRT™) Sequencing Sensitively Detects the Evolution of Polyclonal and Compound BCR-ABL Mutations in Patients Who Relapse On Kinase Inhibitor Therapy." Blood 120, no. 21 (2012): 917. http://dx.doi.org/10.1182/blood.v120.21.917.917.

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Abstract Abstract 917 Background: Secondary kinase domain (KD) mutations represent the most well-documented mechanism of resistance to tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia (CML). In CML, multiple TKIs with different mutation profiles are approved and the ability to detect KD mutations at the time of disease progression can impact therapy choice. To optimize clinical impact, second generation TKI selection must consider the majority TKI-resistant mutant population as well as smaller mutant sub-populations that may be selected with subsequent treatment. Sequential TKI th

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Le, Phan Tuong Quynh, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, Minh Thao Nguyen, and Thi Minh Thi Ha. "An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam." Case Reports in Endocrinology 2022 (March 27, 2022): 1–5. http://dx.doi.org/10.1155/2022/6025916.

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SRD5A2 (steroid 5-alpha-reductase 2) mutation, which impairs 5α-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro) of SRD5A2 gene in a compound heterozygous state first identified in a Vietnamese newborn with 5α-reductase-2 enzyme deficiency. We also first submitted this rare mutation to ClinVar database (VCV000973099.1). The patient presented with hyperpigmented labia-majora-like bifid scrotum, clitoris-like phallus, perineoscrotal hypospadias, and blind-endi

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Yang, Y., X. Bai, H. Liu, L. Li, C. Cao, and L. Ge. "Novel Mutations of Cathepsin C Gene in Two Chinese Patients with Papillon-Lefèvre Syndrome." Journal of Dental Research 86, no. 8 (2007): 735–38. http://dx.doi.org/10.1177/154405910708600809.

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Papillon-Lefèvre syndrome (PLS) is an inherited human disease characterized by early-onset periodontitis and palmoplantar hyperkeratosis. Mutations of the lysosomal protease cathepsin C ( CTSC) gene have been shown to be the genetic cause of Papillon-Lefèvre syndrome. There are several case reports in China, while there has been no study on the genetic analysis of PLS. We studied two Chinese patients carrying Papillon-Lefèvre syndrome and showing premature tooth loss and palmoplantar hyperkeratosis. Mutation screening and sequence analysis of the CTSC gene revealed a compound heterozygous muta

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Shahbazi, S., R. Mahdian, K. Karimi, and A. Mashayekhi. "Molecular characterization of iranian patients with inherited coagulation factor VII deficiency." Balkan Journal of Medical Genetics 20, no. 2 (2017): 19–25. http://dx.doi.org/10.1515/bjmg-2017-0027.

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AbstractCoagulation factor VII (FVII) is a key enzyme of the extrinsic coagulation cascade that is predominantly produced by hepatocytes. TheF7gene mutations cause FVII deficiency with considerable molecular and phenotypic heterogeneity. We characterized the molecular alterations of theF7gene and their corresponding mRNA transcripts in Iranian patients from eight unrelated families. The mutations were detected by polymerase chain reaction (PCR)-sequencing of allF7gene exons, their flanking intronic sequences, as well as their corresponding cDNA fragments. Homozygous P303T, C91S and R304Q mutat

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Liu, Hongxing, Jiaqi Chen, Fang Wang, et al. "NGS-Based Screening to Comprehensively Decipher TKIs Resistant Mutations in BCR-ABL1 Positive Leukemias." Blood 136, Supplement 1 (2020): 30. http://dx.doi.org/10.1182/blood-2020-140917.

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In BCR-ABL1 positive leukemia, mutations in the BCR-ABL1 kinase domain (KD) are the most common TKIs resistance mechanism. Sanger sequencing (SS) is currently the gold standard for detecting ABL1 KD mutations, but its low detection sensitivity cannot reveal mutations below 20% VAFs (variant allele frequency), and it is challenging to distinguish compound or polyclonal mutations. In recent years, the NGS-based BCR-ABL1 KD mutation screening protocol provides a powerful tool for deciphering complex patterns (compound or polyclonal mutations) and higher detection sensitivity (~2%, hotspot mutatio

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Thomas, Renjan, Gautam Balaram, Hrishi Varayathu, et al. "Molecular epidemiology and clinical characteristics of epidermal growth factor receptor mutations in NSCLC: A single-center experience from India." Journal of Cancer Research and Therapeutics 19, no. 5 (2023): 1398–406. http://dx.doi.org/10.4103/jcrt.jcrt_1986_21.

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ABSTRACT Background: The genetic profiling of non-small cell lung cancer (NSCLC) has contributed to the discovery of actionable targetable mutations, which have significantly improved outcomes in disease with poor prognosis. Molecular epidemiological data of driver mutations in Indian populations have not been extensively elaborated compared to western and eastern Asian NSCLC populations. This study assessed the prevalence and clinical outcomes of EGFR (epidermal growth factor receptor) mutations among the Indian NSCLC cohort in South India. Patients and Methods: Retrospective analysis of 2,00

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Tai, E. Shyong, Evelyn S. C. Koay, Edmund Chan, et al. "Compound Heterozygous Familial Hypercholesterolemia and Familial Defective Apolipoprotein B-100 Produce Exaggerated Hypercholesterolemia." Clinical Chemistry 47, no. 3 (2001): 438–43. http://dx.doi.org/10.1093/clinchem/47.3.438.

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Abstract Background: Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) represent ligand-receptor disorders that are complementary. Individuals with both FH and FDB are unusual. We report a family with both disorders and the impact of the mutations on the phenotypes of the family members. Methods: We used single strand conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE) for genetic analysis of all 18 exons and the promoter region of the LDL receptor and DGGE for genetic analysis of the apolipoprotein B-100 (apo B-100) gene. The

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Lee, Dae-Hee, and Ji Yoon Lee. "Abstract 5770: Inhibition of KRAS G12D mutant with small molecules." Cancer Research 84, no. 6_Supplement (2024): 5770. http://dx.doi.org/10.1158/1538-7445.am2024-5770.

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Abstract Background: RAS mutations are occurring at a high rate in colorectal cancer, lung cancer, and pancreatic cancer. RAS is family of small GTPase proteins with important roles in cell growth, differentiation, proliferation, and survival. There are three types of RAS genes: HRAS, KRAS, and NRAS. The The RAS gene is the most commonly found oncogene in human cancer. KRAS exhibits a highest mutation rate compared to those of HRAS and NRAS in various cancer types. Methods: Colorectal cell line LIM1215, SW48 and NSCLC cell line NCI-H1975, NCI-H838 were used for MTT assays. Apoptosis assay was

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Kim, Youn Jung, Hong Zhang, Yejin Lee, et al. "Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta." Journal of Personalized Medicine 13, no. 2 (2023): 326. http://dx.doi.org/10.3390/jpm13020326.

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Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analy

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Wang, Li, Jingjing Li, Ge Wu, and Xiangdong Kong. "A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing." Journal of International Medical Research 49, no. 4 (2021): 030006052110106. http://dx.doi.org/10.1177/03000605211010644.

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Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the SMARCAL1 mutation. The phenotype can vary from mild to severe on the basis of the patient’s age at onset. Herein, we report the case of a 14-year-old Chinese boy who presented with short stature, focal segmental glomerulosclerosis (FSGS), and facial dysmorphism. Genetic analysis revealed two compound heterozygous missense mutations, including a well-known mutation (c.1933C>T, p.R645C) and a novel mutation (c.2479G>A, p.V827M) in the SMARCAL1 gene, which were inherited from his p

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Ichinose, Aya, Hideaki Moteki, Mitsuru Hattori, Shin-ya Nishio, and Shin-ichi Usami. "Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance." Annals of Otology, Rhinology & Laryngology 124, no. 1_suppl (2015): 142S—147S. http://dx.doi.org/10.1177/0003489415575043.

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Objective: We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings. Methods: One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. Results: Compound heterozygotes with a novel frame-shift mutation and a missense m

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