Works matching DE "FRAMESHIFT mutation"

Results: 1147

Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.

Published in:

Cancer Medicine, 2025, v. 14, n. 9, p. 1, doi. 10.1002/cam4.70922

By:

Faranoush, Mohammad;
Naseripour, Masood;
Faranoush, Pooya;
Davoodi‐Moghaddam, Zeinab;
Jahandideh, Alireza;
Sadighnia, Negin;
Daneshjou, Delbar;
Shams, Parisa;
Sedaghat, Ahad;
Mirshahi, Reza;
Ravanbod, Shirin;
Nasirnejad, Farzaneh;
Elahinia, Ali;
Bashash, Davood

Publication type:

Article

Primary Malignant Melanoma of the Uterine Cervix with S100 (Protein Marker Seen in Women with Melanoma) Negative Status and Novel ATM Gene Mutation: Case Report and Literature Review.

Published in:

International Journal of Women's Health, 2025, v. 17, p. 983, doi. 10.2147/IJWH.S499393

By:

Wang, Liang

Publication type:

Article

TP53 mutation and immunohistochemical p53 expression characteristics in diffuse large B–cell lymphoma.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1550207

By:

Jin, Yiping;
Wang, Yi;
Wang, Lu;
Zhang, He;
Ren, Beibei;
Zheng, Jiawen;
Xia, Qingxin;
Liu, Yanyan

Publication type:

Article

Differential regulation of mTORC2 signalling by type I and type II calreticulin (CALR) driver mutations of myeloproliferative neoplasm.

Published in:

Cell Communication & Signaling, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12964-025-02212-0

By:

Naseer, Saadia;
Singh, Aditi;
Shrivastva, Saurabh;
Singh, Rishi Kant;
Chowdhury, Shayeri;
Dey, Chinmoy Sankar;
Roy, Anita

Publication type:

Article

Preclinical Toxicological Assessment of 2‐(Benzoxazol‐2‐yl)[(2‐hydroxynaphthyl)diazenyl]phenol Derivatives for Blue Light and UV Radiation Photoprotection Applications.

Published in:

Journal of Applied Toxicology, 2025, v. 45, n. 6, p. 925, doi. 10.1002/jat.4756

By:

Sousa, Karen;
Corrêa, Dione Silva;
de Oliveira, João Denis Medeiros;
Rieth, Gabriel Beilfuss;
da Silva, Juliana;
Paczkowski, Ingrid Maliszewski;
Campo, Leandra Franciscato;
Grivicich, Ivana;
Picada, Jaqueline Nascimento

Publication type:

Article

Association of Yellow-Orange Color of Ripe Pepper Fruits with Mutations in the Capsanthin-Capsorubin Synthase Gene CCS.

Published in:

Russian Journal of Plant Physiology, 2025, v. 72, n. 2, p. 1, doi. 10.1134/S1021443724609753

By:

Filyushin, M. A.;
Dzhos, E. A.;
Shchennikova, A. V.;
Kochieva, E. Z.

Publication type:

Article

A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 4, p. 1197, doi. 10.1007/s10815-025-03443-3

By:

Dong, Jie;
Zou, Zhichuan;
Wang, Wenhua;
Chen, Li;
Ma, Rujun;
Ge, Xie;
Jing, Jun;
Ma, Jinzhao;
Yao, Bing

Publication type:

Article

Fine mapping and candidate identification of SST, a gene controlling seedling salt tolerance in rice ( Oryza sativa L.).

Published in:

Euphytica, 2015, v. 205, n. 1, p. 269, doi. 10.1007/s10681-015-1453-9

By:

Lan, Tao;
Zhang, Shujun;
Liu, Tingting;
Wang, Bin;
Guan, Huazhong;
Zhou, Yuanchang;
Duan, Yuanlin;
Wu, Weiren

Publication type:

Article

Adenine base-editing-mediated exon skipping induces gene knockout in cultured pig cells.

Published in:

Biotechnology Letters, 2022, v. 44, n. 1, p. 59, doi. 10.1007/s10529-021-03214-x

By:

Zhu, Xiang-xing;
Pan, Jia-sheng;
Lin, Tao;
Yang, Ye-cheng;
Huang, Qiu-yan;
Yang, Shuai-peng;
Qu, Zi-xiao;
Lin, Zi-sheng;
Wen, Jian-cong;
Yan, Ai-fen;
Feng, Juan;
Liu, Lian;
Zhang, Xiao-li;
Lu, Jia-hong;
Tang, Dong-sheng

Publication type:

Article

A simple approach to mediate genome editing in the filamentous fungus Trichoderma reesei by CRISPR/Cas9-coupled in vivo gRNA transcription.

Published in:

Biotechnology Letters, 2020, v. 42, n. 7, p. 1203, doi. 10.1007/s10529-020-02887-0

By:

Wu, Chuan;
Chen, Yumeng;
Qiu, Yifei;
Niu, Xiao;
Zhu, Ningjian;
Chen, Jiehui;
Yao, Hong;
Wang, Wei;
Ma, Yushu

Publication type:

Article

Efficient targeting of FATS at a common fragile site in mice through TALEN-mediated double-hit genome modification.

Published in:

Biotechnology Letters, 2014, v. 36, n. 3, p. 471, doi. 10.1007/s10529-013-1387-z

By:

Ma, Ke;
Wang, Jianying;
Shen, Bin;
Qiu, Li;
Huang, Xingxu;
Li, Zheng

Publication type:

Article

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.

Published in:

Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-023-05620-w

By:

Ding, Hui-yang;
Lei, Wen;
Xiao, Shang-jie;
Deng, Hua;
Yuan, Li-ke;
Xu, Lu;
Zhou, Jia-liang;
Huang, Rong;
Fang, Yuan-long;
Wang, Qing-yuan;
Zhang, Ying;
Zhang, Liang;
Zhu, Xiao-chun

Publication type:

Article

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.

Published in:

Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-023-05620-w

By:

Ding, Hui-yang;
Lei, Wen;
Xiao, Shang-jie;
Deng, Hua;
Yuan, Li-ke;
Xu, Lu;
Zhou, Jia-liang;
Huang, Rong;
Fang, Yuan-long;
Wang, Qing-yuan;
Zhang, Ying;
Zhang, Liang;
Zhu, Xiao-chun

Publication type:

Article

Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.

Published in:

Pediatric Surgery International, 2020, v. 36, n. 11, p. 1309, doi. 10.1007/s00383-020-04751-8

By:

Dagorno, Claire;
Pio, Luca;
Capri, Yline;
Ali, Liza;
Giurgea, Irina;
Qoshe, Livia;
Morcrette, Guillaume;
Julien-Marsollier, Florence;
Sommet, Julie;
Chomton, Maryline;
Berrebi, Dominique;
Bonnard, Arnaud

Publication type:

Article

Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.

Published in:

Child's Nervous System, 2020, v. 36, n. 4, p. 873, doi. 10.1007/s00381-019-04399-3

By:

Zhang, Liping;
Jia, Yu;
Qi, Xiaohong;
Li, Mingyu;
Wang, Shiyu;
Wang, Yuping

Publication type:

Article

A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.

Published in:

Acta Diabetologica, 2024, v. 61, n. 2, p. 189, doi. 10.1007/s00592-023-02192-y

By:

Kavitha, Babu;
Srikanth, Kandi;
Singh, Deepshikha;
Gopi, Sundaramoorthy;
Mohan, Viswanathan;
Chandra, Nagasuma;
Radha, Venkatesan

Publication type:

Article

CRISPR/Cas9-mediated multiple guide RNA-targeted mutagenesis in the potato.

Published in:

Transgenic Research, 2023, v. 32, n. 5, p. 383, doi. 10.1007/s11248-023-00356-8

By:

Abeuova, Laura;
Kali, Balnur;
Tussipkan, Dilnur;
Akhmetollayeva, Ainash;
Ramankulov, Yerlan;
Manabayeva, Shuga

Publication type:

Article

ABC transporter mutations in Cry1F‐resistant fall armyworm (Spodoptera frugiperda) do not result in altered susceptibility to selected small molecule pesticides.

Published in:

Pest Management Science, 2021, v. 77, n. 2, p. 949, doi. 10.1002/ps.6106

By:

Abdelgaffar, Heba;
Perera, Omaththage P;
Jurat‐Fuentes, Juan Luis

Publication type:

Article

Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Published in:

NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00180-5

By:

Liu, Xuguang;
Huang, Xin;
Bai, Yan;
Zhang, Zhiwen;
Jin, Tiefeng;
Wu, Huanwen;
Liang, Zhiyong

Publication type:

Article

Glial Cell Missing Homolog 2 Mutation Causing Severe Hypoparathyroidism: Report of Two Cases With Novel Mutations.

Published in:

Journal of the Endocrine Society, 2023, v. 7, n. 1, p. 1, doi. 10.1210/jendso/bvac166

By:

Singhania, Pankaj;
Ghosh, Arunava;
Das, Debaditya;
Bhattacharjee, Rana;
Roy, Ajitesh;
Chowdhury, Subhankar

Publication type:

Article

A New Mutation of Pompe Disease in a 2-Month-Old Infant.

Published in:

Case Reports in Clinical Practice, 2023, v. 8, n. 5, p. 189

By:

Taraz, Maryam;
Gorji, Mojtaba;
Gharib, Behdad;
Ziaee, Vahid

Publication type:

Article

Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del).

Published in:

International Journal of Retina & Vitreous, 2022, v. 8, n. 1, p. 1, doi. 10.1186/s40942-022-00384-2

By:

Wai, Yong Zheng;
Chong, Yong Yuin;
Lim, Lik Thai;
Hamzah, Norhafizah;
Rahmat, Jamalia

Publication type:

Article

A Frameshift Mutation in the Mg-Chelatase I Subunit Gene OsCHLI Is Associated with a Lethal Chlorophyll-Deficient, Yellow Seedling Phenotype in Rice.

Published in:

Plants (2223-7747), 2023, v. 12, n. 15, p. 2831, doi. 10.3390/plants12152831

By:

Shim, Kyu-Chan;
Kang, Yuna;
Song, Jun-Ho;
Kim, Ye Jin;
Kim, Jae Kwang;
Kim, Changsoo;
Tai, Thomas H.;
Park, Inkyu;
Ahn, Sang-Nag

Publication type:

Article

Highly Efficient CRISPR/Cas9 Mediated Gene Editing in Ocimum basilicum 'FT Italiko' to Induce Resistance to Peronospora belbahrii.

Published in:

Plants (2223-7747), 2023, v. 12, n. 13, p. 2395, doi. 10.3390/plants12132395

By:

Laura, Marina;
Forti, Chiara;
Barberini, Sara;
Ciorba, Roberto;
Mascarello, Carlo;
Giovannini, Annalisa;
Pistelli, Luisa;
Pieracci, Ylenia;
Lanteri, Anna Paola;
Ronca, Agostina;
Minuto, Andrea;
Ruffoni, Barbara;
Cardi, Teodoro;
Savona, Marco

Publication type:

Article

Isolation and Characterization of APETALA3 Orthologs and Promoters from the Distylous Fagopyrum esculentum.

Published in:

Plants (2223-7747), 2021, v. 10, n. 8, p. 1644, doi. 10.3390/plants10081644

By:

Zeng, Lingtian;
Zhang, Jiao;
Wang, Xuan;
Liu, Zhixiong

Publication type:

Article

Antithrombin deficiency is associated with prothrombotic plasma fibrin clot phenotype.

Published in:

Acta Haematologica Polonica, 2022, v. 53, n. A, p. 107

By:

Ząbczyk, Michał;
Treliński, Jacek;
Witkowski, Michał;
Natorska, Joanna;
Klajmon, Adrianna;
Undas, Anetta

Publication type:

Article

A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70058

By:

Yang, Ying;
Chen, Liqing;
Wang, Zhenzhen;
Ding, Yaling;
Liu, Yan

Publication type:

Article

Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Published in:

2024

By:

Hu, Xueling;
Lin, Wei;
Luo, Zengyuan;
Zhong, Yong;
Xiao, Xiangcheng;
Tang, Rong

Publication type:

Case Study

A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2296

By:

Ma, Xiuli;
Zhao, Liping;
Li, Li;
Li, Xia;
Ding, Chaohong;
Ma, Jing

Publication type:

Article

Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2364

By:

Li, Lingyi;
Qu, Xiaowei;
Cui, Chenchen;
Feng, Ke;
Xia, Yanqing;
Wan, Feng;
Ge, Hengtao;
Fang, Yinghong;
Zhang, Cuilian;
Guo, Haibin

Publication type:

Article

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2350

By:

Whitford, Whitney;
Taylor, Juliet;
Hayes, Ian;
Smith, Warwick;
Snell, Russell G.;
Lehnert, Klaus;
Jacobsen, Jessie C.

Publication type:

Article

A Chinese patient with Rothmund–Thomson syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2347

By:

Zeng, Juan;
Li, Jiayi;
Liu, Yuwei;
Liang, Rui;
Wang, Lin;
Zhou, Qing;
Sun, Jinghua;
Liu, Zhongzhen;
Wang, Wen‐Jing;
Zhu, Sujun

Publication type:

Article

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2281

By:

Yang, Jingjing;
Yu, Chaonan;
Lyn, Nan;
Liu, Lei;
Li, Dongxiao;
Shang, Qing

Publication type:

Article

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2273

By:

Zhao, Wenjing;
Zhang, Yinhong;
Lv, Tao;
He, Jing;
Zhu, Baosheng

Publication type:

Article

A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2261

By:

Mir, Atefeh;
Song, Yongjun;
Lee, Hane;
Montazer‐Zohouri, Mostafa;
Reisi, Marziyeh;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247

By:

Marshall, Aren E.;
MacDonald, Stella K.;
Liang, Yijing;
Couse, Madeline;
Boycott, Kym M.;
Richer, Julie;
Kernohan, Kristin D.

Publication type:

Article

Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2175

By:

Wu, Yali;
Wang, Shasha;
Yin, Wen;
Yin, Wei;
Ding, Yan

Publication type:

Article

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2168

By:

Jamshidi, Fereshteh;
Shokouhian, Ebrahim;
Mohseni, Marzieh;
Kahrizi, Kimia;
Najmabadi, Hossein;
Babanejad, Mojgan

Publication type:

Article

A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing.

Published in:

2023

By:

Li, Huan;
Wang, Liang;
Zhang, Cheng

Publication type:

Case Study

Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation.

Published in:

2023

By:

Huang, Yazhou;
Ma, Linya;
Zhang, Zhaoxia;
Nie, Shujuan;
Zhou, Yuan;
Zhang, Jibo;
Wang, Chao;
Fang, Xingxin;
Quan, Yingting;
He, Ting;
Liu, Anhui;
Peng, Dan

Publication type:

Case Study

Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 11, p. 1, doi. 10.1002/mgg3.2052

By:

Elsayed, Omnia;
Al‐Shamsi, Aisha

Publication type:

Article

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2021

By:

Qu, Ning;
Li, Wei;
Han, Dong‐Ming;
Gao, Jia‐Yu;
Yang, Zheng‐Tao;
Jiang, Li;
Liu, Tian‐Bin;
Chen, Yan‐Xian;
Jiang, Xiao‐Sen;
Zhou, Liang;
Wu, Ji‐Hong;
Huang, Xin

Publication type:

Article

Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review.

Published in:

2022

By:

Zhu, Yunqian;
Du, Xiaonan;
Sun, Li;
Wang, Huijun;
Wang, Dahui;
Wu, Bingbing

Publication type:

Case Study

Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1903

By:

Zhang, Qinghua;
Zhang, Chuan;
Wang, Yupei;
Hao, Shengjv;
Shi, Jingyun;
Feng, Xuan;
Zheng, Lei;
Wang, Xin;
Xue, Chen;
Zhou, Bingbo;
Liu, Furong;
Zhao, Fangping;
Li, Xuetao;
Deng, Liangyuan;
Hou, Jun;
Meng, Zhaoyan

Publication type:

Article

A novel frameshift mutation of DVL1‐induced Robinow syndrome: A case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1886

By:

Hu, Ruolan;
Qiu, Yu;
Li, Yifei;
Li, Jinrong

Publication type:

Article

Mdr3 gene mutation in preterm infants with parenteral nutrition‐associated cholestasis.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1875

By:

Yang, Xiufang;
Liu, Guosheng;
Yi, Bing

Publication type:

Article

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1825

By:

Zhao, Jianbo;
Lyu, Guizhen;
Ding, Changhong;
Wang, Xiaohui;
Li, Jiuwei;
Zhang, Weihua;
Yang, Xinying;
Zhang, Victor Wei

Publication type:

Article

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1834

By:

Mohammadi, Pouria;
Salehi Siavashani, Elham;
Mohammadi, Mohammad Farid;
Bahramy, Afshin;
Almadani, Navid;
Garshasbi, Masoud

Publication type:

Article

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1800

By:

Li, Jinjie;
Yang, Liu;
Diao, Yanjun;
Zhou, Lei;
Xin, Yijuan;
Jiang, Liqing;
Li, Rui;
Wang, Juan;
Duan, Weixun;
Liu, Jiayun

Publication type:

Article

CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1775

By:

Yin, Xiaoyun;
Hao, Jianxiu;
Yao, Yuanqing

Publication type:

Article