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   Articles with "exon deletion" as a keyword



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PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E

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recommendations! Published in 2017 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.395

Abstract: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with Charcot–Marie–Tooth… read more here.

Keywords: pmp22; deletion causes; gain function; exon deletion ... See more keywords

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

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recommendations! Published in 2022 at "Annals of Neurology"

DOI: 10.1002/ana.26461

Abstract: Duchenne muscular dystrophy (DMD) exon 45–55 deletion (del45–55) has been postulated as a model that could treat up to 60% of DMD patients, but the associated clinical variability and complications require clarification. We aimed to… read more here.

Keywords: dmd exon; modifying factors; exon deletion; phenotypes modifying ... See more keywords

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

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recommendations! Published in 2017 at "Journal of Applied Genetics"

DOI: 10.1007/s13353-017-0391-8

Abstract: In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation—a single exon 48 deletion of the dystrophin gene—who were affected with… read more here.

Keywords: exon deletion; muscular dystrophy; becker muscular; single exon ... See more keywords
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A unique triadin exon deletion causing a null phenotype

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recommendations! Published in 2018 at "HeartRhythm Case Reports"

DOI: 10.1016/j.hrcr.2018.07.014

Abstract: Large deletions and duplications may be responsible for some of the cause of genetically elusive arrhythmia syndromes. Introduction Triadin is a transmembrane protein located in the sarcoplasmic reticulum; it interacts with both ryanodine (RYR2) and… read more here.

Keywords: unique triadin; deletion causing; triadin exon; null phenotype ... See more keywords

Non-small cell lung cancer harboring EGFR G724S mutation and exon 19 deletion responded to afatinib monotherapy after multiple lines of target therapies

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recommendations! Published in 2022 at "Anti-Cancer Drugs"

DOI: 10.1097/cad.0000000000001321

Abstract: Epidermal growth factor receptor (EGFR) G724S mutation represents a resistance mechanism to first- and third-generation EGFR tyrosine kinase inhibitors. Limited data are available regarding the efficacy of afatinib in patients with non-small cell lung cancer… read more here.

Keywords: egfr g724s; g724s mutation; exon deletion; mutation ... See more keywords

Comparison of the Efficacy of EGFR-TKIs Combined with Antiangiogenic Agents between Patients with Exon 19 Deletion and Patients with Exon 21 Leu858 Arg Mutation: A Systematic Review and Meta-Analysis

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recommendations! Published in 2022 at "Journal of Oncology"

DOI: 10.1155/2022/9399797

Abstract: Purpose To compare the efficacy of EGFR-TKIs combined with antiangiogenic agents between non-small cell lung cancer patients with exon 19 deletion and patients with exon 21 Leu858 Arg mutation. Methods Electronic databases (PubMed, Embase, and… read more here.

Keywords: leu858 arg; exon leu858; exon deletion; patients exon ... See more keywords

Patients harboring uncommon EGFR exon 19 deletion-insertion mutations respond well to first-generation EGFR inhibitors and osimeritinib upon acquisition of T790M

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recommendations! Published in 2021 at "BMC Cancer"

DOI: 10.1186/s12885-021-08942-x

Abstract: Background In the existing next generation sequencing (NGS) system, epidermal growth factor receptor (EGFR) exon 19 deletion-insertion (19delins) is still interpreted into the category of EGFR exon 19 deletion (19del). However, the controversy exists whether… read more here.

Keywords: first generation; egfr; egfr exon; generation ... See more keywords

eHSP90α in front-line therapy in EGFR exon 19 deletion and 21 Leu858Arg mutations in advanced lung adenocarcinoma

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recommendations! Published in 2024 at "BMC Cancer"

DOI: 10.1186/s12885-024-12573-3

Abstract: Extracellular heat shock protein 90 AA1(eHSP90α) is intricately linked to tumor progression and prognosis. This study aimed to investigate the difference in the value of eHSP90α in post-treatment response assessment and prognosis prediction between exon… read more here.

Keywords: lung adenocarcinoma; mutation; exon deletion; leu858arg ... See more keywords

STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B

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recommendations! Published in 2024 at "Journal of Pediatric Endocrinology and Metabolism"

DOI: 10.1515/jpem-2023-0562

Abstract: Abstract Objectives Pseudohypoparathyroidism (PHP) comprises a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone (PTH) resistance. PHP type 1B (PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16.… read more here.

Keywords: methylation; exon deletion; type; pseudohypoparathyroidism ... See more keywords

Bronchiolar adenoma with EGFR exon 19 deletion mutation: a case report and literature review

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recommendations! Published in 2025 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2025.1565549

Abstract: Background Bronchiolar adenoma (BA) is a benign lung tumor characterized by nodular proliferation of bilayered bronchiolar-type epithelium with a continuous basal cell layer. The genetic characteristics of BA are not well understood. However, mutations commonly… read more here.

Keywords: report; case report; exon deletion; egfr exon ... See more keywords

Overall Survival Benefits of First-Line Treatments for Asian Patients with Advanced Epidermal Growth Factor Receptor-Mutated NSCLC Harboring Exon 19 Deletion: A Systematic Review and Network Meta-Analysis

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recommendations! Published in 2022 at "Cancers"

DOI: 10.3390/cancers14143362

Abstract: Simple Summary Survival benefits and clinical responsiveness have been exhibited by various generations of EGFR-tyrosine kinase inhibitors (TKIs) in numerous randomized-controlled trials for EGFR-mutated advanced non-small-cell lung cancer (NSCLC) over the past two decades. However,… read more here.

Keywords: meta analysis; survival; systematic review; exon deletion ... See more keywords