Works matching DE "FRAMESHIFT mutation"

Results: 1157

Extensive sclerotic skin involvement in Erdheim–Chester disease.

Published in:

QJM: An International Journal of Medicine, 2025, v. 118, n. 4, p. 291, doi. 10.1093/qjmed/hcae248

By:

Xia, Yi-Jun;
Feng, Cheng;
Wang, Zhi;
Cao, Xin-Xin

Publication type:

Article

Malignant mesothelioma with a novel BAP1 germline frameshift mutation treated with dual immune checkpoint inhibitors: A case report.

Published in:

Oncology Letters, 2025, v. 30, n. 1, p. N.PAG, doi. 10.3892/ol.2025.15104

By:

Zhou, Na;
Wu, Mingying;
Wang, Chenyu;
Yuan, Mingming;
Cheng, Yuejuan;
Wu, Huanwen;
Gao, Xin;
Yu, Shuangni;
Zhao, Lin

Publication type:

Article

Identification of de Novo and Novel Mutations in LTBP2 in Pakistani Families with Inherited Primary Congenital Glaucoma.

Published in:

Pakistan Journal of Zoology, 2025, v. 57, n. 3, p. 1159, doi. 10.17582/journal.pjz/20230312090320

By:

Saleem, Rani Saira;
Khan, Muhammad Imran;
Irshad, Saba;
Siddiqui, Sorath Noorani;
Micheal, Shazia

Publication type:

Article

Mutations in the TCAP gene may lead to restrictive phenotype hypertrophic cardiomyopathy with poor prognosis: case report Open Access.

Published in:

European Heart Journal Case Reports, 2025, v. 9, n. 5, p. 1, doi. 10.1093/ehjcr/ytaf180

By:

Hu, Yunwen;
Liu, Guangzhong;
Yuan, Jie;
Yin, Da;
Lin, Yaowang

Publication type:

Article

Early-stage endometrioid carcinoma with MSH6 protein deficiency: pitfalls in the diagnostic interpretation of microsatellite instability.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1520500

By:

Wang, Cheng;
Liang, Dongni;
Wang, Wei;
Kuang, Wei;
Zou, Juan;
Zeng, Jing;
Feng, Min

Publication type:

Article

Structural and Functional Analysis of the Human IQSEC2 S1474Qfs*133 Mutation.

Published in:

Biomolecules (2218-273X), 2025, v. 15, n. 5, p. 635, doi. 10.3390/biom15050635

By:

Israel, Yonat;
Lowenkamp, Aaron;
Shokhen, Michael;
Netser, Shai;
Wagner, Shlomo;
Zarowin, Joseph;
Orth, Shaun;
Borisov, Veronika;
Lache, Orit;
Levy, Nina S.;
Levy, Andrew P.

Publication type:

Article

Bispecific antibody targeting shared indel-derived neoantigen of APC.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1574958

By:

Effenberger, Clara;
Wu, Xiaojing;
Zhao, Peng;
Matsumoto, Saki;
Nakamura, Yusuke;
Kiyotani, Kazuma

Publication type:

Article

Identification of shared neoantigens derived from frameshift mutations in the APC gene.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1574955

By:

Zhao, Peng;
Effenberger, Clara;
Matsumoto, Saki;
Tanaka, Toshihiro;
Nakamura, Yusuke;
Kiyotani, Kazuma

Publication type:

Article

A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.

Published in:

2019

By:

Akagawa, Hiroyuki;
Onda, Hideaki;
Nomura, Shunsuke;
Shinohara, Toyoaki;
Kasuya, Hidetoshi

Publication type:

Case Study

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

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 8, p. 1965, doi. 10.1007/s10815-024-03150-5

By:

Hu, Hua-ying;
Zhang, Ge-han;
Deng, Wei-fen;
Wei, Tian-ying;
Feng, Zhan-ke;
Li, Cun-xi;
Li, Song jun;
Liu, Jia-en;
Tian, Ya-ping

Publication type:

Article

A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility.

Published in:

2023

By:

Wang, Yufeng;
Qin, Qingtao;
Yang, Yang;
Dong, Shan;
Liu, Yuting;
Wang, Molin;
Zou, Yongxin;
Gong, Yaoqin;
Zhou, Haibin;
Jiang, Baichun

Publication type:

Case Study

A novel homozygous mutation in DNAJB13—a gene associated with the sperm axoneme—leads to teratozoospermia.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 3, p. 757, doi. 10.1007/s10815-022-02431-1

By:

Liu, Mohan;
Li, Jinhui;
Jiang, Chuan;
Zhou, Yanning;
Sun, Yongkang;
Yang, Yihong;
Shen, Ying

Publication type:

Article

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 6, p. 1551, doi. 10.1007/s10815-021-02194-1

By:

Liu, Juan;
Tan, Zongjian;
He, Jun;
Jin, Tingting;
Han, Yuanyuan;
Hu, Li;
Huang, Shengwen

Publication type:

Article

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 1, p. 205, doi. 10.1007/s10815-019-01606-7

By:

Zheng, Wei;
Chen, Longbin;
Dai, Jing;
Dai, Can;
Guo, Jing;
Lu, Changfu;
Gong, Fei;
Lu, Guangxiu;
Lin, Ge

Publication type:

Article

Novel mutation in the ZP1 gene and clinical implications.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 4, p. 741, doi. 10.1007/s10815-019-01404-1

By:

Yuan, Ping;
Li, Ruiqi;
Li, Di;
Zheng, Lingyan;
Ou, Songbang;
Zhao, Haijing;
Zhang, Qingxue;
Wang, Wenjun

Publication type:

Article

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09326-7

By:

Mehta, Poonam;
Vishvkarma, Rahul;
Gupta, Sushil;
Chattopadhyay, Naibedya;
Rajender, Singh

Publication type:

Article

A novel frameshift mutation in Allan-Herndon-Dudley syndrome.

Published in:

International Journal of Legal Medicine, 2022, v. 136, n. 4, p. 1181, doi. 10.1007/s00414-022-02823-z

By:

Liu, Zihao;
Zhao, Shuquan;
Chen, Jianyi;
Ma, Longda;
Shi, Qing;
Zhou, Yiwu

Publication type:

Article

Postmortem detection of COL gene family variants in two aortic dissection cases.

Published in:

2022

By:

Pan, Meichen;
Wang, Yuning;
Li, Lianjie;
Li, Zehao;
Wu, Shifan;
Liu, Qian

Publication type:

Case Study

Genome damage accumulated in seed ageing leads to plant genome instability and growth inhibition.

Published in:

Biochemical Journal, 2023, v. 480, n. 7, p. 461, doi. 10.1042/BCJ20230006

By:

Waterworth, Wanda M.;
West, Christopher E.

Publication type:

Article

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.

Published in:

2015

By:

Folkman, Lukas;
Yuedong Yang;
Zhixiu Li;
Stantic, Bela;
Sattar, Abdul;
Mort, Matthew;
Cooper, David N.;
Yunlong Liu;
Yaoqi Zhou

Publication type:

Product Review

MMuFLR: missense mutation and frameshift location reporter.

Published in:

Bioinformatics, 2013, v. 29, n. 18, p. 2353, doi. 10.1093/bioinformatics/btt385

By:

Rathe, Susan K.;
Johnson, James E.;
Silverstein, Kevin A.T.;
Erdmann, Jesse J.;
Watson, Adrienne L.;
Popescu, Flavia E.;
Ohlfest, John R.;
Largaespada, David A.

Publication type:

Article

MetaGeneTack: ab initio detection of frameshifts in metagenomic sequences.

Published in:

Bioinformatics, 2013, v. 29, n. 1, p. 114, doi. 10.1093/bioinformatics/bts636

By:

Tang, Shiyuyun;
Antonov, Ivan;
Borodovsky, Mark

Publication type:

Article

Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report.

Published in:

Bulletin of the National Research Centre, 2022, v. 46, n. 1, p. 1, doi. 10.1186/s42269-022-00938-2

By:

Palanca Arias, Daniel;
Ayerza Casas, Ariadna;
Clavero Adell, Marcos;
Gutiérrez Alonso, Cristina;
López Ramón, Marta;
Jiménez Montañés, Lorenzo;
Estaben Boldova, Victoria;
Izquierdo-Álvarez, Silvia

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

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

A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.

Published in:

Journal of Neurogenetics, 2016, v. 30, n. 1, p. 1, doi. 10.3109/01677063.2016.1141208

By:

Mojbafan, Marzieh;
Nilipour, Yalda;
Tonekaboni, Seyed Hasan;
Bagheri, Samira Dabbagh;
Bagherian, Hamideh;
Sharifi, Zohreh;
Zeinali, Zahra;
Tavakkoly-Bazzaz, Javad;
Zeinali, Sirous

Publication type:

Article

Phenotypic Analysis and Gene Cloning of Rice Floury Endosperm Mutant wcr (White-Core Rice).

Published in:

Plants (2223-7747), 2024, v. 13, n. 18, p. 2653, doi. 10.3390/plants13182653

By:

Yang, Yihao;
Yang, Xiaoyi;
Wu, Lingjun;
Sun, Zixing;
Zhang, Yi;
Shen, Ziyan;
Zhou, Juan;
Guo, Min;
Yan, Changjie

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

Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1579, doi. 10.1002/acn3.52075

By:

Parvizi, Tandis;
Klotz, Sigrid;
Keritam, Omar;
Caliskan, Haluk;
Imhof, Sophie;
König, Theresa;
Haider, Lukas;
Traub‐Weidinger, Tatjana;
Wagner, Matias;
Brunet, Theresa;
Brugger, Melanie;
Zimprich, Alexander;
Rath, Jakob;
Stögmann, Elisabeth;
Gelpi, Ellen;
Cetin, Hakan

Publication type:

Article

Reply to: Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 1, p. 101, doi. 10.1002/acn3.51489

By:

Lee, Yi‐Chung;
Liao, Yi‐Chu

Publication type:

Article

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2384, doi. 10.1002/acn3.50930

By:

Naumann, Marcel;
Peikert, Kevin;
Günther, Rene;
Kooi, Anneke J.;
Aronica, Eleonora;
Hübers, Annemarie;
Danel, Veronique;
Corcia, Philippe;
Pan‐Montojo, Francisco;
Cirak, Sebahattin;
Haliloglu, Göknur;
Ludolph, Albert C.;
Goswami, Anand;
Andersen, Peter M.;
Prudlo, Johannes;
Wegner, Florian;
Van Damme, Philip;
Weishaupt, Jochen H.;
Hermann, Andreas

Publication type:

Article

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1311, doi. 10.1002/acn3.50831

By:

Yu, Meng;
Zhu, Ying;
Xie, Zhiying;
Zheng, Yiming;
Xiao, Jiangxi;
Zhang, Wei;
Nishino, Ichizo;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 968, doi. 10.1002/acn3.768

By:

Krenn, Martin;
Knaus, Alexej;
Westphal, Dominik S.;
Wortmann, Saskia B.;
Polster, Tilman;
Woermann, Friedrich G.;
Karenfort, Michael;
Mayatepek, Ertan;
Meitinger, Thomas;
Wagner, Matias;
Distelmaier, Felix

Publication type:

Article

Impact of maternal engrafted cytomegalovirus‐specific CD8<sup>+</sup> T cells in a patient with severe combined immunodeficiency.

Published in:

Clinical & Translational Immunology, 2021, v. 10, n. 4, p. 1, doi. 10.1002/cti2.1272

By:

Koh, June‐Young;
Lee, Sang‐Bo;
Kim, Borahm;
Park, Younhee;
Choi, Jong Rak;
Son, Sohee;
Kim, Yae‐Jean;
Hahn, Seung Min;
Ahn, Jong Gyun;
Kang, Ji‐Man;
Shin, Eui‐Cheol

Publication type:

Article

Correction of frameshift mutations in the atpB gene by translational recoding in chloroplasts of Oenothera and tobacco.

Published in:

Plant Cell, 2021, v. 33, n. 5, p. 1682, doi. 10.1093/plcell/koab050

By:

Malinova, Irina;
Zupok, Arkadiusz;
Massouh, Amid;
Schöttler, Mark Aurel;
Meyer, Etienne H;
Yaneva-Roder, Liliya;
Szymanski, Witold;
Rößner, Margit;
Ruf, Stephanie;
Bock, Ralph;
Greiner, Stephan

Publication type:

Article

Construction and validation of a synthetic phage-displayed nanobody library.

Published in:

Korean Journal of Physiology & Pharmacology, 2024, v. 28, n. 5, p. 457, doi. 10.4196/kjpp.2024.28.5.457

By:

Minju Kim;
Xuelian Bai;
Hyewon Im;
Jisoo Yang;
Youngju Kim;
Minjoo MJ Kim;
Yeonji Oh;
Yuna Jeon;
Hayoung Kwon;
Seunghyun Lee;
Chang-Han Lee

Publication type:

Article

Gene panel testing detects important genetic alterations in ulcerative colitis-associated colorectal neoplasia.

Published in:

Oncology Letters, 2022, v. 24, n. 6, p. N.PAG, doi. 10.3892/ol.2022.13562

By:

Shimada, Yoshifumi;
Nakano, Mae;
Mizuno, Ken-Ichi;
Yokoyama, Junji;
Matsumoto, Akio;
Tanaka, Kana;
Oyanagi, Hidehito;
Nakano, Masato;
Hirose, Yuki;
Ichikawa, Hiroshi;
Sakata, Jun;
Kameyama, Hitoshi;
Takii, Yasumasa;
Sugai, Mika;
Ling, Yiwei;
Takeuchi, Shiho;
Okuda, Shujiro;
Terai, Shuji;
Ajioka, Yoichi;
Wakai, Toshifumi

Publication type:

Article

Whole genome, exon mutation and transcriptomic profiling of acute myeloid leukemia: A case report.

Published in:

Oncology Letters, 2021, v. 22, n. 1, p. N.PAG, doi. 10.3892/ol.2021.12820

By:

Lai, Si-Han;
Li, Ye-Cheng;
Zhang, Shan;
Deng, Rui;
Deng, Yan;
Fan, Fang-Yi

Publication type:

Article

Genetic profiling of somatic alterations by Oncomine Focus Assay in Korean patients with advanced gastric cancer.

Published in:

Oncology Letters, 2020, v. 20, n. 5, p. 1, doi. 10.3892/ol.2020.11990

By:

JOONHONG PARK;
SANG-IL LEE;
SOYOUNG SHIN;
JANG HEE HONG;
HAN MO YOO;
JEONG GOO KIM

Publication type:

Article

Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.

Published in:

Oncology Letters, 2019, v. 17, n. 3, p. 3350

By:

Cui, Yanzhi;
Wang, Yanyan;
Zhang, Ningzhi;
He, Jun;
Huang, Hui;
Liu, Fengling;
Wei, Suju;
Dong, Qian;
Wu, Jing;
Lin, Keke;
Chen, Weixi;
Xiang, Jiale;
Jin, Hui;
Peng, Zhiyu;
Zhao, Qiang;
Li, Wei;
Jiang, Da;
Banerjee, Santasree

Publication type:

Article

A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas.

Published in:

Oncology Letters, 2018, v. 16, n. 4, p. 5167, doi. 10.3892/ol.2018.9248

By:

Chen, Zhonghua;
Bi, Qing;
Kong, Mingxiang;
Cao, Li;
Ruan, Weiwei

Publication type:

Article

Genetic basis of a common tumor origin in the development of pancreatic mixed acinar-neuroendocrine-ductal carcinoma: A case report.

Published in:

2017

By:

ATSUSHI TAKANO;
YOSUKE HIROTSU;
KENJI AMEMIYA;
HIROSHI NAKAGOMI;
NAOKI OISHI;
TOSHIO OYAMA;
HITOSHI MOCHIZUKI;
MASAO OMATA

Publication type:

Case Study

A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy.

Published in:

2022

By:

Wu, Ying;
Li, Chunyu;
Yang, Tianmi;
Lin, Junyu;
Shang, Huifang

Publication type:

Report

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 5/6, p. 444, doi. 10.3109/21678421.2012.758288

By:

Droppelmann, Cristian A.;
Wang, Jian;
Campos-Melo, Danae;
Keller, Brian;
Volkening, Kathryn;
Hegele, Robert A.;
Strong, Michael J.

Publication type:

Article

Notable mutations of porcine parvovirus 1 and 4 circulating in commercial pig farms in South Korea.

Published in:

Korean Journal of Veterinary Research, 2024, v. 64, n. 1, p. 1, doi. 10.14405/kjvr.20230036

By:

Beomsu Park;
Jihyeon Hong;
Jongsu Jun;
An Kook Choi;
Choi Kyu Park;
Young Soo Lyoo

Publication type:

Article

Identification and Application of BhAPRR2 Controlling Peel Colour in Wax Gourd (Benincasa hispida).

Published in:

Frontiers in Plant Science, 2021, v. 12, p. 1, doi. 10.3389/fpls.2021.716772

By:

Ma, Lianlian;
Liu, Zhengguo;
Cheng, Zhikui;
Gou, Jiquan;
Chen, Jieying;
Yu, Wenjin;
Wang, Peng

Publication type:

Article

A pseudokinase version of the histidine kinase ChrS promotes high heme tolerance of Corynebacterium glutamicum.

Published in:

Frontiers in Microbiology, 2022, v. 13, p. 01, doi. 10.3389/fmicb.2022.997448

By:

Krüger, Aileen;
Frunzke, Julia

Publication type:

Article