PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
A unique triadin exon deletion causing a null phenotype
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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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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
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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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
CD22 Exon 12 Deletion as an Independent Predictor of Poor Treatment Outcomes in B-ALL
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DOI: 10.3390/cancers15051599
Abstract: Simple Summary We previously reported that cancer cells from the most common type of childhood cancer, namely, a form of acute leukemia known as B-ALL, are characterized by an abnormality known as CD22 exon 12… read more here.
Keywords: cd22; exon deletion; poor treatment; cd22 exon ... See more keywords