Zobrazeno 1 - 10
of 83 782
pro vyhledávání: '"EXON"'
Publikováno v:
BMC Cancer, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Purpose 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 p
Externí odkaz:
https://doaj.org/article/dee9d7a29eb4463e965a0cdfde0ad8f1
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 771-776 (2024)
Objective: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease. Case report: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revea
Externí odkaz:
https://doaj.org/article/843b99fd417a415daf64d3afa2e76e0f
Autor:
Tien-Chang Lin, Orion Shih, Tien-Ying Tsai, Yi-Qi Yeh, Kuei-Fen Liao, Bradley W. Mansel, Ying-Jen Shiu, Chi-Fon Chang, An-Chung Su, Yun-Ru Chen, U-Ser Jeng
Publikováno v:
IUCrJ, Vol 11, Iss 5, Pp 849-858 (2024)
The aberrant fibrillization of huntingtin exon 1 (Httex1) characterized by an expanded polyglutamine (polyQ) tract is a defining feature of Huntington's disease, a neurodegenerative disorder. Recent investigations underscore the involvement of a smal
Externí odkaz:
https://doaj.org/article/209dc44d9cfb417082cdde097083b7a8
Publikováno v:
BMC Cancer, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Introduction This retrospective study aimed to investigate treatment patterns and outcomes in patients with NSCLC harboring EGFR20ins in China. EGFR20ins mutations are associated with poor responses to EGFR-TKIs, and limited real-world data
Externí odkaz:
https://doaj.org/article/b2af4dde6f3941b0b97ae378a099685d
Publikováno v:
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, Vol 32, Iss 5, Pp 7803-7816 (2024)
Introduction: Human genome consists of the three billion base pairs that has about one percent of genetic variation from one person to another، which determines physical، psychological، and susceptibility to diseases. Among the types of genetic di
Externí odkaz:
https://doaj.org/article/e8b732aa96164ce6ba2ecbc9caee2880
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background SimSpliceEvol is a tool for simulating the evolution of eukaryotic gene sequences that integrates exon-intron structure evolution as well as the evolution of the sets of transcripts produced from genes. It takes a guide gene tree
Externí odkaz:
https://doaj.org/article/ef81f092ac6e467d83a557a137023071
Publikováno v:
Case Reports in Nephrology and Dialysis, Vol 14, Iss 1, Pp 104-109 (2024)
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, which is mainly caused by pathogenic variants in two particular genes: PKD1 and PKD2. ADPKD caused by variants in other genes (GANAB or I
Externí odkaz:
https://doaj.org/article/1e348d8228474ea885b6928b6d0fa88b
Autor:
Pablo Monfort-Lanzas, Elena Cristina Rusu, Lucia Parrakova, Cornelia A. Karg, Dorina-Elina Kernbichler, Dietmar Rieder, Peter Lackner, Hubert Hackl, Johanna M. Gostner
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background Reverse transcription quantitative PCR (RT-qPCR) with intercalating dyes is one of the main techniques to assess gene expression levels used in basic and applied research as well as in diagnostics. However, primer design for RT-qP
Externí odkaz:
https://doaj.org/article/c069b496083a4183bb25200a49999a80
Autor:
Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous studies. This study provided a deeper understanding of the d
Externí odkaz:
https://doaj.org/article/4d415b75d393438580b51288c13305dc