Digital Filter-Based Exon Prediction: Exploring the Reason why Cascading 2nd Order Moving Average Filter Directly with Anti-Notch Filter should be Avoided

Authors: Singh, Amit kumar, Srivastava, Vinay Kumar

Source: 2024 4th International Conference on Artificial Intelligence and Signal Processing (AISP) Artificial Intelligence and Signal Processing (AISP), 2024 4th International Conference on. :1-6 Oct, 2024

Relation: 2024 4th International Conference on Artificial Intelligence and Signal Processing (AISP)

The Role of Three-Base Periodicity in Enhancing Exon Detection through DSP Techniques

Authors: Sakran, Ammar AbdRaba, Al-Jawher, Waleed, Hadi, Suha M

Source: 2023 16th International Conference on Developments in eSystems Engineering (DeSE) Developments in eSystems Engineering (DeSE), 2023 16th International Conference on. :617-622 Dec, 2023

Relation: 2023 16th International Conference on Developments in eSystems Engineering (DeSE)

LLOYD: Requiem; Psalm 130.

Authors: GREENFIELD, PHILIP

Source: American Record Guide. Sep/Oct2024, Vol. 87 Issue 5, p75-76. 2p.

Subjects: WALLACE, Stephen, MAKINSON, Jeffrey, EXON Singers (Performer)

Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome

Authors: Hiba S. Al-Amodi, Nazik Altayeb Abdelbasit, Sameer H. Fatani, Mohiuddin M. Taher, Maowia Mohamed Mukhtar, Ayman S. Mohamed, Abdallah M. Gameel, Hala F. M. Kamel, Shimaa Abdelsattar

Source: Diabetology & Metabolic Syndrome, Vol 17, Iss 1, Pp 1-10 (2025)

Subject Terms: DNA sequencing, Metabolic syndrome, LDLR gene exon 4, LDLR proteins, Saudi women, Nutritional diseases. Deficiency diseases, RC620-627

File Description: electronic resource

Relation: https://doaj.org/toc/1758-5996

Access URL: https://doaj.org/article/ba483e088da1462ebb81ee6a307ce5b3

Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management

Authors: Ting-Yao Wang, Chao-Yu Chen, Huei-Chieh Chuang, Yuan-Yuan Jiang, Jrhau Lung

Source: Molecular Cytogenetics, Vol 18, Iss 1, Pp 1-6 (2025)

Subject Terms: Lynch syndrome, MSH6 gene, Exon skipping, Small bowel cancer, Next-generation sequencing, Hereditary cancer, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/19a487461c3c461ab6a5ee1aaadb966a

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Authors: Ali Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, Mridul Johari, Ella Nippala, David Gomez Andres, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Peter Hackman, Marco Savarese, Bjarne Udd

Source: Skeletal Muscle, Vol 15, Iss 1, Pp 1-13 (2025)

Subject Terms: Neuromuscular diseases, OBSCN/RNA splicing, Exon inclusion, Muscle development, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/2044-5040

Access URL: https://doaj.org/article/bc4e47f6418c41c294603000be4973bb

Real-world pharmacovigilance analysis unveils the toxicity profile of amivantamab targeting EGFR exon 20 insertion mutations in non-small cell lung cancer

Authors: Jing Zhang, Wenjie Li

Source: BMC Pulmonary Medicine, Vol 25, Iss 1, Pp 1-11 (2025)

Subject Terms: Amivantamab, Toxicities, Pharmacovigilance, EGFR exon 20 insertion mutations, Diseases of the respiratory system, RC705-779

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2466

Access URL: https://doaj.org/article/f0a7b78c253446b79b3f3929a264ff19

Identification of the clinical and genetic characteristics of gliomas with gene fusions by integrated genomic and transcriptomic analysis

Authors: Guo-zhong Yi, Hua-yang Zhang, Tian-shi Que, Shan-qiang Qu, Zhi-yong Li, Song-tao Qi, Wen-yan Feng, Guang-long Huang

Source: European Journal of Medical Research, Vol 30, Iss 1, Pp 1-11 (2025)

Subject Terms: Oncogenic gene fusions, Gliomas, Whole exon sequencing, Next-generation RNA sequencing, Survival, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2047-783X

Access URL: https://doaj.org/article/e89627401ed3464aa36e394402fa1a3f

Heterozygous mutation in BRCA2 induces accelerated age-dependent decline in sperm quality with male subfertility in rats

Authors: Yashiro Motooka, Hideaki Tanaka, Yuki Maeda, Misako Katabuchi, Tomoji Mashimo, Shinya Toyokuni

Source: Scientific Reports, Vol 15, Iss 1, Pp 1-17 (2025)

Subject Terms: BRCA2 exon 11, Pathogenic variant, Heterozygote, Spermatogenesis, Aging, Male subfertility, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/a4f8692d33a642efa4439f54bfabf929

Hyperprogressive disease induced by PD-1 inhibitor monotherapy in lung adenocarcinoma with HER2 exon 20 insertion: report of two cases and review of literature

Authors: Guangjian Yang, Linyan Tian, Yan Wang

Source: Discover Oncology, Vol 16, Iss 1, Pp 1-10 (2025)

Subject Terms: Hyperprogressive disease, PD-1 inhibitor, HER2, Exon 20 insertion, Non-small cell lung cancer, Case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2730-6011

Access URL: https://doaj.org/article/7924640bed58443aa6325e37049091fb

CD44 variant exons induce chemoresistance by modulating cell death pathways

Authors: Maria Yanova, Evgeniya Stepanova, Diana Maltseva, Alexander Tonevitsky

Source: Frontiers in Cell and Developmental Biology, Vol 13 (2025)

Subject Terms: CD44 variant exon 6, CD44 variant exon 9, cancer, chemoresistance, apoptosis, ferroptosis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2025.1508577/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/7ed5ab103b92443dae6631752375ea04

Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy

Authors: Komaki, Hirofumi ^{1, 2, 6}, Takeshita, Eri ^{1, 6}, Kunitake, Katsuhiko ^{3, 6}, Ishizuka, Takami ², Shimizu-Motohashi, Yuko ¹, Ishiyama, Akihiko ¹, Sasaki, Masayuki ¹, Yonee, Chihiro ⁴, Maruyama, Shinsuke ⁴, Hida, Eisuke ⁵, Aoki, Yoshitsugu ^{3, 7, ∗}

Source: In Cell Reports Medicine 21 January 2025 6(1)

Exploring the C.elegans genome genes' composition of exon and intron sequences using the multifractal analysis

Authors: Babchia, Zeineb Chebbi, Oueslati, Afef Elloumi

Source: 2022 IEEE Information Technologies & Smart Industrial Systems (ITSIS) Information Technologies & Smart Industrial Systems (ITSIS), 2022 IEEE. :1-5 Jul, 2022

Relation: 2022 IEEE Information Technologies & Smart Industrial Systems (ITSIS)

Analysis of weak expression of A antigen induced by ABO gene mutation

Authors: GU Yuwei, WANG Chengyun, GU Ping, PAN Qiuhui, WANG Jing

Source: Zhenduanxue lilun yu shijian, Vol 23, Iss 06, Pp 619-623 (2024)

Subject Terms: abo blood group, genotype, exon, weak antigen expression, Medicine

File Description: electronic resource

Relation: https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1740725536510-1181357707.pdf; https://doaj.org/toc/1671-2870

Access URL: https://doaj.org/article/3ab8ce21153b488eb5ef87fc29764f2f

Advances in Nucleic Acid Drugs and Gene Therapies based on Animal Models of Duchenne Muscular Dystrophy

Authors: LIU Siyu, LAI Yuezhao, GUO Wenting, CHEN Xuejin

Source: Shiyan dongwu yu bijiao yixue, Vol 44, Iss 6, Pp 613-625 (2024)

Subject Terms: duchenne muscular dystrophy, dystrophin, nucleic acid drugs, antisense oligonucleotides, gene therapy, exon skipping, Medicine

File Description: electronic resource

Relation: https://www.slarc.org.cn/dwyx/CN/10.12300/j.issn.1674-5817.2024.168; https://doaj.org/toc/1674-5817

Access URL: https://doaj.org/article/92cca53439394f899f3351c372d70f2a

Screening for Janus kinase-2 exon 12 mutations among Janus kinase-2 V617F-negative polycythemia vera suspected Iraqi patients

Authors: Mushtaq M. Khazeem, Alaa Fadhil Alwan

Source: Iraqi Journal of Hematology, Vol 13, Iss 2, Pp 233-237 (2024)

Subject Terms: janus kinase 2 exon 12, janus kinase 2v617f negative, polycythemia vera, Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/ijh.ijh_46_24; https://doaj.org/toc/2072-8069; https://doaj.org/toc/2543-2702

Access URL: https://doaj.org/article/e04f0093ae89411897ae44608f7a72ff

A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area

Authors: Huang S, alhadidi MAA, Feng N, Wan C

Source: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 17, Pp 2773-2776 (2024)

Subject Terms: papular acantholytic dyskeratosis, whole exon sequencing, atp2c1, Dermatology, RL1-803

File Description: electronic resource

Relation: https://www.dovepress.com/a-novel-nonsense-mutation-of-the-atp2c1-gene-in-an-18-year-old-female--peer-reviewed-fulltext-article-CCID; https://doaj.org/toc/1178-7015

Access URL: https://doaj.org/article/84634b271c68480cb9b576daa0da07a3

Efficacy and safety of Viltepso® in Duchenne muscular dystrophy: review of clinical studies

Authors: V. M. Suslov, D. I. Rudenko

Source: Русский журнал детской неврологии, Vol 19, Iss 3, Pp 38-50 (2024)

Subject Terms: duchenne muscular dystrophy, exon skipping, antisense oligonucleotides, viltepso®, viltolarsen, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://rjdn.abvpress.ru/jour/article/view/485; https://doaj.org/toc/2073-8803; https://doaj.org/toc/2412-9178

Access URL: https://doaj.org/article/148205c84c7947269a407c2bb740230f

Endogenous plasma resuspension of peripheral blood mononuclear cells prevents preparative-associated stress that modifies polyA-enriched RNA responses to subsequent acute stressors

Authors: Dongyang Li, Karina Al-Dahleh, Daniel A Murphy, Sonya Georgieva, Nik Matthews, Claire L Shovlin

Source: Cell Stress, Vol 11, Pp 112-124 (2024)

Subject Terms: cycloheximide, hypothermia, integrated stress response, intronless (single exon) genes, iron, protein translation inhibition, reactive oxygen species, poly-a selected rnaseq, experimental variability, Medicine, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://microbialcell.com/researcharticles/2024a-li-cell-stress; https://doaj.org/toc/2523-0204

Access URL: https://doaj.org/article/673ed9bec2f04663ad507a7927105b26

In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

Authors: Cătălin Vasile Munteanu, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa

Source: BMC Genomic Data, Vol 25, Iss 1, Pp 1-14 (2024)

Subject Terms: Lynch syndrome, Mismatch repair gene PMS2, Alternative splicing, RNA splicing, Splicing mutations, Exon skipping, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2730-6844

Access URL: https://doaj.org/article/a6119d78d567491e88e8c7def5420876