يعرض 1 - 20 نتائج من 11,828 نتيجة بحث عن '"NONSENSE MUTATION"', وقت الاستعلام: 0.61s تنقيح النتائج
  1. 1
    Academic Journal
    A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

    المؤلفون: Xiong, Sujie1 (AUTHOR) 874832166@qq.com, Hu, Guangyao1 (AUTHOR) sf99609248@126.com, Zhou, Yao1 (AUTHOR) 1397966985@qq.com, Sun, Fei1 (AUTHOR) 99609248@qq.com, Ma, Yanlin1 (AUTHOR) mayanlinma@hotmail.com

    المصدر: Hereditas. 1/29/2025, Vol. 162 Issue 1, p1-8. 8p.

    مصطلحات موضوعية: *FETAL growth retardation, *NONSENSE mutation, *MEDICAL sciences, *WHOLE genome sequencing, *LIFE sciences, *DYSPLASIA, *KARYOTYPES, *MICROTUBULES

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  2. 2
    Academic Journal
    Multiple mutations in polyketide synthase led to disruption of Psittacofulvin production across diverse parrot species.

    المؤلفون: Ghosh Roy, Shatadru1 (AUTHOR), Brejcha, Jindřich2 (AUTHOR), Maršík, Petr3,4 (AUTHOR), Bakhrat, Anna1 (AUTHOR), Abdu, Moty5 (AUTHOR), Arbore, Roberto6,7 (AUTHOR), Araújo, Pedro Miguel6,7,8 (AUTHOR), Afonso, Sandra6,7 (AUTHOR), Carneiro, Miguel6,7 (AUTHOR), Grossman-Haham, Iris1 (AUTHOR), Abdu, Uri1 (AUTHOR) abdu@bgu.ac.il

    المصدر: Communications Biology. 1/17/2025, Vol. 8 Issue 1, p1-11. 11p.

    مصطلحات موضوعية: *NONSENSE mutation, *LIFE sciences, *CYTOLOGY, *BUDGERIGAR, *PRODUCTION losses

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  3. 3
    Academic Journal
    A W1282X cystic fibrosis mouse allows the study of pharmacological and gene-editing therapeutics to restore CFTR function.

    المؤلفون: Michicich, Margaret1 (AUTHOR), Traylor, Zachary1 (AUTHOR), McCoy, Caitlan1 (AUTHOR), Valerio, Dana M.1 (AUTHOR), Wilson, Alma1 (AUTHOR), Schneider, Molly1 (AUTHOR), Davis, Sakeena1 (AUTHOR), Barabas, Amanda1 (AUTHOR), Mann, Rachel J.1 (AUTHOR), LePage, David F.1 (AUTHOR), Jiang, Weihong1 (AUTHOR), Drumm, Mitchell L.1 (AUTHOR), Kelley, Thomas J.1 (AUTHOR), Conlon, Ronald A.1 (AUTHOR), Hodges, Craig A.1 (AUTHOR) craig.hodges@case.edu

    المصدر: Journal of Cystic Fibrosis. Jan2025, Vol. 24 Issue 1, p164-174. 11p.

    مصطلحات موضوعية: *CYSTIC fibrosis transmembrane conductance regulator, *NONSENSE mutation, *GENOME editing, *CYSTIC fibrosis, *SHORT circuits


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  4. 4
    Academic Journal
    Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

    المؤلفون: Xu, Fang1 (AUTHOR), Huang, Hongyan1 (AUTHOR), Shen, Qiuyan1 (AUTHOR), Bao, Yi1 (AUTHOR), Zhang, Dan1 (AUTHOR), Liu, Ling1 (AUTHOR), Xu, Yanming1 (AUTHOR) neuroxym999@163.com

    المصدر: Neurological Sciences. Jan2025, Vol. 46 Issue 1, p437-444. 8p.

    مصطلحات موضوعية: *PATENT foramen ovale, *NONSENSE mutation, *CEREBELLAR ataxia, *SENSORINEURAL hearing loss, *SHORT stature


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  5. 5
    Academic Journal
    Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia.

    المؤلفون: Wang, Kaihan1 (AUTHOR), Hu, Tingting2 (AUTHOR), Tai, Mengmeng1 (AUTHOR), Shen, Yan1 (AUTHOR), Lin, Shaoyi1 (AUTHOR), Guo, Yongjuan3 (AUTHOR) fyyguoyongjuan@nbu.edu.cn, Chen, Xiaomin1 (AUTHOR) chxmin@hotmail.com

    المصدر: Molecular Genetics & Genomic Medicine. Nov2024, Vol. 12 Issue 11, p1-8. 8p.

    مصطلحات موضوعية: *NONSENSE mutation, *LIPOPROTEIN receptors, *FAMILIAL hypercholesterolemia, *LASER microscopy, *GENETIC disorders

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  6. 6
    Academic Journal
    Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.

    المؤلفون: Wang, Li1 (AUTHOR), Xu, Qingdan1 (AUTHOR), Wang, Wentao2 (AUTHOR), Sun, Xinghuai1,3,4 (AUTHOR), Chen, Yuhong1,3 (AUTHOR) yuhongchen@fudan.edu.cn

    المصدر: Orphanet Journal of Rare Diseases. 10/24/2024, Vol. 19 Issue 1, p1-12. 12p.

    مصطلحات موضوعية: *NONSENSE mutation, *DELETION mutation, *VISION disorders, *POLYMERASE chain reaction, *NUCLEOTIDE sequencing

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  7. 7
    Academic Journal
    Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.

    المؤلفون: Xu, Fei1 (AUTHOR), Qin, Langyi1 (AUTHOR), Zou, Anqing1 (AUTHOR), Hou, Lingling1 (AUTHOR), Wang, Mingshan1 (AUTHOR), Chen, Bile2 (AUTHOR) zjwzcbl@126.com

    المصدر: Orphanet Journal of Rare Diseases. 10/9/2024, Vol. 19 Issue 1, p1-8. 8p.

    مصطلحات موضوعية: *NONSENSE mutation, *CATALYTIC domains, *CHINESE people, *DRUG efficacy, POPULATION of China

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  8. 8
    Academic Journal
    Longitudinal Comparative Analysis of Circulating Tumor DNA and Matched Tumor Tissue DNA in Patients with Metastatic Colorectal Cancer Receiving Palliative First-Line Systemic Anti-Cancer Therapy.

    المؤلفون: Lee, Seung-been1 (AUTHOR), Kim, Ji-Won2 (AUTHOR), Kim, Hong-Geun1 (AUTHOR), Hwang, Sung-Hyun3 (AUTHOR), Kim, Kui-Jin3 (AUTHOR), Lee, Ju Hyun2,4 (AUTHOR), Seo, Jeongmin2 (AUTHOR), Kang, Minsu2 (AUTHOR), Jung, Eun Hee2 (AUTHOR), Suh, Koung Jin2 (AUTHOR), Kim, Se Hyun2 (AUTHOR), Kim, Jin Won2 (AUTHOR), Kim, Yu Jung2 (AUTHOR), Kim, Jee Hyun2 (AUTHOR), Kwon, Nak-Jung1 (AUTHOR) asper76@macrogen.com, Lee, Keun-Wook2 (AUTHOR) hmodoctor@snubh.org

    المصدر: Cancer Research & Treatment. Oct2024, Vol. 56 Issue 4, p1171-1182. 12p.

    مصطلحات موضوعية: *CIRCULATING tumor DNA, *NONSENSE mutation, *OVERALL survival, *MISSENSE mutation, *ANTINEOPLASTIC agents

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  9. 9
    Academic Journal
    Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy.

    المؤلفون: Li, Zhenyu1 (AUTHOR), Chu, Xujun1 (AUTHOR), Li, Yize1 (AUTHOR), Xie, Zhiying1 (AUTHOR), Yu, Meng1 (AUTHOR), Deng, Jianwen1 (AUTHOR), Lv, He1 (AUTHOR), Zhang, Wei1 (AUTHOR), Wang, Zhaoxia1,2,3 (AUTHOR), Yuan, Yun1,2,3 (AUTHOR) yuanyun2002@126.com, Meng, Lingchao1,2,3 (AUTHOR) lcmeng@bjmu.edu.cn

    المصدر: Acta Neuropathologica. 9/4/2024, Vol. 148 Issue 1, p1-4. 4p.

    مصطلحات موضوعية: *NONSENSE mutation, *STRESS granules, *MUSCLE weakness, *ACID phosphatase, *ACHILLES tendon, *NEMALINE myopathy


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  10. 10
    Academic Journal
    NF1 mutation and TUBB3 amplification in gastric histiocytic sarcoma: a case report and literature review.

    المؤلفون: Yang, Yi1 (AUTHOR), Fan, Wei1 (AUTHOR), Liu, Xiaoping1 (AUTHOR), Chen, Qiongrong1 (AUTHOR) qiongrongchen@whu.edu.cn

    المصدر: Medical Molecular Morphology. Sep2024, Vol. 57 Issue 3, p244-251. 8p.

    مصطلحات موضوعية: *RETICULUM cell sarcoma, *NONSENSE mutation, *GENE amplification, *NUCLEOTIDE sequencing


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  11. 11
    Academic Journal
    Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.

    المؤلفون: Koyama, Yuimi1 (AUTHOR), Suico, Mary Ann1,2 (AUTHOR), Owaki, Aimi1 (AUTHOR), Sato, Ryoichi1 (AUTHOR), Kuwazuru, Jun1 (AUTHOR), Kaseda, Shota1 (AUTHOR), Sannomiya, Yuya1 (AUTHOR), Horizono, Jun1 (AUTHOR), Omachi, Kohei1 (AUTHOR), Horinouchi, Tomoko3 (AUTHOR), Yamamura, Tomohiko3 (AUTHOR), Tsuhako, Haruki1 (AUTHOR), Nozu, Kandai3 (AUTHOR), Shuto, Tsuyoshi1,2 (AUTHOR) tshuto@gpo.kumamoto-u.ac.jp, Kai, Hirofumi1,2 (AUTHOR) hirokai@gpo.kumamoto-u.ac.jp

    المصدر: Clinical & Experimental Nephrology. Sep2024, Vol. 28 Issue 9, p874-881. 8p.

    مصطلحات موضوعية: *NONSENSE mutation, *TRIMERIZATION, *GENETIC mutation, *KIDNEY failure, *GENETIC disorders


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  12. 12
    Academic Journal
    The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts.

    المؤلفون: Riaz, Hafsa1,2, Zheng, Bixia3, Zheng, Yucan3, Liu, Zhifeng3, Gu, Hong-mei1, Imran, Muhammad2, Yaqoob, Tahir4, Bhinder, Munir Ahmad5, Zhang, Da-wei1 dzhang@ualberta.ca, Zahoor, Muhammad Yasir2 yasir.zahoor@uvas.edu.pk

    المصدر: Scientific Reports. 8/15/2024, Vol. 14 Issue 1, p1-11. 11p.

    مصطلحات موضوعية: *PAKISTANIS, *NONSENSE mutation, *CHOLESTASIS, *BILE salts, *CHROMOSOMES, *BILE

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  13. 13
    Academic Journal
    Intact and mutated Shigella diguanylate cyclases increase c-di-GMP.

    المؤلفون: Ojha, Ruchi1, Krug, Stefanie2, Jones, Prentiss3, Koestler, Benjamin J.1 benjamin.koestler@wmich.edu

    المصدر: Journal of Biological Chemistry. Aug2024, Vol. 300 Issue 8, p1-13. 13p.

    مصطلحات موضوعية: *SHIGELLA flexneri, *NONSENSE mutation, *CYCLASES, *PHENOTYPES, *HUMAN body

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  14. 14
    Academic Journal
    A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly–Polymicrogyria–Polydactyly–Hydrocephalus Syndrome.

    المؤلفون: Zhao, Mei-Fang1 (AUTHOR), Zhang, Song-Lin2 (AUTHOR), Xiang, YangZiYu1 (AUTHOR), Wang, Qian1 (AUTHOR), Cao, Gao-Hui1 (AUTHOR), Zhang, Ping-Ping3 (AUTHOR), Fan, Liang-Liang1 (AUTHOR), Yu, Rong4 (AUTHOR) yurong@csu.edu.cn, Li, Ya-Li3 (AUTHOR) lyl8703@sina.com

    المصدر: DNA & Cell Biology. Jul2024, Vol. 43 Issue 7, p325-330. 6p.

    مصطلحات موضوعية: *DNA copy number variations, *NONSENSE mutation, *TANDEM mass spectrometry, *CYCLINS, *SURFACE charges


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  15. 15
    Academic Journal
    Gene Expression Analysis of Yeast Strains with a Nonsense Mutation in the eRF3-Coding Gene Highlights Possible Mechanisms of Adaptation.

    المؤلفون: Maksiutenko, Evgeniia M.1,2 (AUTHOR) jmrose@yandex.ru, Barbitoff, Yury A.1,3 (AUTHOR) barbitoff@bioinf.me, Danilov, Lavrentii G.1 (AUTHOR) l.danilov@spbu.ru, Matveenko, Andrew G.1 (AUTHOR) a.matveenko@spbu.ru, Zemlyanko, Olga M.1,4 (AUTHOR) o.zemlyanko@spbu.ru, Efremova, Elena P.1 (AUTHOR) efremova.bio@gmail.com, Moskalenko, Svetlana E.1,2 (AUTHOR) smoskalenko@mail.ru, Zhouravleva, Galina A.1,4 (AUTHOR) g.zhuravleva@spbu.ru

    المصدر: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 12, p6308. 18p.

    مصطلحات موضوعية: *GENE expression, *NONSENSE mutation, *PROTEOMICS, *TRANSCRIPTION factors, *GENETIC mutation, *CELL cycle regulation

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  16. 16
    Academic Journal
    Like Father, Like Daughter – Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.

    المؤلفون: JITH, Gopika1 (AUTHOR), SUBA, Santanu1 (AUTHOR), GIRI, Sanjay Kumar1 (AUTHOR) plastic_sanjay@aiimsbhubaneswar.edu.in

    المصدر: Journal of Hand Surgery (Asian-Pacific Volume). Jun2024, Vol. 29 Issue 3, p248-251. 4p.

    مصطلحات موضوعية: *NONSENSE mutation, *DAUGHTERS, *ECTODERMAL dysplasia, *FATHERS, *SYNDROMES, *FOOT pain, *NAIL diseases

    مصطلحات جغرافية: INDIA


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  17. 17
    Academic Journal
    Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.

    المؤلفون: Xu, Hai1 (AUTHOR), Ma, Kai2 (AUTHOR), Gao, Yuye3 (AUTHOR), Song, Qijun3 (AUTHOR), Chen, Chaojin1 (AUTHOR), Xu, Xiao3 (AUTHOR), Peng, Jiaxi1 (AUTHOR), Sun, Yan3,4 (AUTHOR) sunyan6150@163.com

    المصدر: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-9. 9p.

    مصطلحات موضوعية: *NONSENSE mutation, *BLOOD lactate, *GENETIC testing, *MITOCHONDRIA, *LANGUAGE acquisition, *FAMILIAL spastic paraplegia, *KNEE

    مصطلحات جغرافية: CHINA

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  18. 18
    Academic Journal
    Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child.

    المؤلفون: Al Ageeli, Essam1 (AUTHOR) ealageeli@jazanu.edu.sa

    المصدر: Saudi Journal for Health Sciences. Sep-Dec2024, Vol. 13 Issue 3, p261-263. 3p.

    مصطلحات موضوعية: *SHORT stature, *NONSENSE mutation, *GENETIC testing, *SOMATOTROPIN, *HORMONE therapy, *PITUITARY dwarfism


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  19. 19
    Academic Journal
    Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.

    المؤلفون: Liang, Guanxia1 (AUTHOR), Lin, Zezhang1 (AUTHOR), Zhang, Yang2 (AUTHOR), Zhang, Qianqian1 (AUTHOR), Zhu, Dina1 (AUTHOR), Liang, Xiongda1 (AUTHOR), Xie, Hongting1 (AUTHOR), Wei, Xiaofeng1 (AUTHOR), Shang, Xuan1,3,4 (AUTHOR) shangrabbit@163.com

    المصدر: Molecular Genetics & Genomics. 5/24/2024, Vol. 299 Issue 1, p1-9. 9p.

    مصطلحات موضوعية: *FETAL hemoglobin, *NONSENSE mutation, *HEMOLYTIC anemia, *HEREDITY, *SYMPTOMS, *ANIMAL health surveillance, *PHENOTYPES, *EXOMES


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  20. 20
    Academic Journal
    Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations.

    المؤلفون: Lebeda, Dennis1 (AUTHOR), Fierenz, Adrian2 (AUTHOR), Werfel, Lina2,3 (AUTHOR), Rosin-Arbesfeld, Rina4 (AUTHOR), Hofhuis, Julia1 (AUTHOR), Thoms, Sven1,2 (AUTHOR) sven.thoms@uni-bielefeld.de

    المصدر: Journal of Molecular Medicine. May2024, Vol. 102 Issue 5, p641-653. 13p.

    مصطلحات موضوعية: *NONSENSE mutation, *RETT syndrome, *STOP codons, *GENETIC mutation, *CARRIER proteins


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