Works about MISSENSE mutation

Results: 4383

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1516562

By:

Xing, Yueyi;
Liu, Han;
Liu, Hua;
Ding, Xueli;
Jing, Xue

Publication type:

Article

Replication of Missense OTOG Gene Variants in a Brazilian Patient with Menière's Disease.

Published in:

Genes, 2025, v. 16, n. 6, p. 654, doi. 10.3390/genes16060654

By:

Bianco-Bortoletto, Giselle;
Almeida-Carneiro, Geovana;
Fabbri-Scallet, Helena;
Parra-Perez, Alberto M.;
Lopes, Karen de Carvalho;
Vieira, Tatiana de Almeida Lima Sá;
Ganança, Fernando Freitas;
Amor-Dorado, Juan Carlos;
Soto-Varela, Andres;
Lopez-Escamez, Jose A.;
Sartorato, Edi Lucia

Publication type:

Article

Collagen Type IV Variants and Kidney Cysts: Decoding the COL4A Puzzle.

Published in:

Genes, 2025, v. 16, n. 6, p. 642, doi. 10.3390/genes16060642

By:

Rigato, Matteo;
Caprara, Carlotta;
Cabrera-Aguilar, J. Said;
Marzano, Nenzi;
Giuliani, Anna;
Mancini, Barbara;
Gastaldon, Fiorella;
Ronco, Claudio;
Zanella, Monica;
Zuccarello, Daniela;
Corradi, Valentina

Publication type:

Article

Malignant hyperthermia with R316C RYR1 novel missense mutation.

Published in:

Pediatric Anesthesia, 2019, v. 29, n. 9, p. 968, doi. 10.1111/pan.13704

By:

Kiatchai, Taniga;
Ratanaphruthakul, Passorn;
Poopipatpab, Sujaree

Publication type:

Article

A Nuclear Function for Armadillo/β-Catenin.

Published in:

PLoS Biology, 2004, v. 2, n. 2, p. 1, doi. 10.1371/journal.pbio.0020095

By:

Tolwinski, Nicholas S;
Wieschaus, Eric

Publication type:

Article

Heterozygous ABCB4 mutations in children with cholestatic liver disease.

Published in:

Liver International, 2016, v. 36, n. 2, p. 258, doi. 10.1111/liv.12910

By:

Gordo ‐ Gilart, Raquel;
Hierro, Loreto;
Andueza, Sara;
Muñoz ‐ Bartolo, Gema;
López, Carola;
Díaz, Carmen;
Jara, Paloma;
Álvarez, Luis

Publication type:

Article

Iranian National Survey on Tinea Capitis: Antifungal Susceptibility Profile, Epidemiological Characteristics, and Report of Two Strains with a Novel Mutation in SQLE Gene with Homology Modeling.

Published in:

Mycopathologia, 2023, v. 188, n. 5, p. 449, doi. 10.1007/s11046-022-00657-2

By:

Abastabar, Mahdi;
Babaei, Maryam;
Mohammadi, Rasoul;
Valadan, Reza;
Javidnia, Javad;
Zaedi, Arezoo;
Aghili, Seyed Reza;
Haghani, Iman;
Khojasteh, Shaghayegh;
Reazaei-Matehkolaei, Ali;
Kiasat, Neda;
Hesari, Kambiz Kamyab;
Ghasemi, Zeinab;
Azish, Maryam;
Zarrinfar, Hossein;
Taghizadeh-Armaki, Mojtaba;
Keikha, Naser;
Kharazi, Mahboobeh;
Khodadadi, Hossein;
Hedayati, Mohammad Taghi

Publication type:

Article

Trichophyton indotineae sp. nov.: A New Highly Terbinafine-Resistant Anthropophilic Dermatophyte Species.

Published in:

Mycopathologia, 2020, v. 185, n. 6, p. 947, doi. 10.1007/s11046-020-00455-8

By:

Kano, Rui;
Kimura, Utako;
Kakurai, Maki;
Hiruma, Junichiro;
Kamata, Hiroshi;
Suga, Yasushi;
Harada, Kazutoshi

Publication type:

Article

Role of VHL-JAK-STAT signaling pathway in central nervous system hemangioblastoma associated with von Hippel-Lindau disease.

Published in:

Journal of Neuro-Oncology, 2020, v. 148, n. 1, p. 29, doi. 10.1007/s11060-020-03506-8

By:

Kanno, Hiroshi;
Yoshizumi, Tetsuya;
Shinonaga, Masamichi;
Kubo, Atsuhiko;
Murata, Hidetoshi;
Yao, Masahiro

Publication type:

Article

The role of TP53 gain-of-function mutation in multifocal glioblastoma.

Published in:

Journal of Neuro-Oncology, 2020, v. 147, n. 1, p. 37, doi. 10.1007/s11060-019-03318-5

By:

Olafson, Lauren R.;
Gunawardena, Manuri;
Nixdorf, Sheri;
McDonald, Kerrie L.;
Rapkins, Robert W.

Publication type:

Article

Heme oxygenase-1 deficiency as an extremely rare cause of AA-type renal amyloidosis: Expanding the clinical features and review of the literature.

Published in:

Clinical Rheumatology, 2023, v. 42, n. 2, p. 597, doi. 10.1007/s10067-022-06465-9

By:

Dirim, Ahmet Burak;
Kalayci, Tugba;
Safak, Seda;
Garayeva, Nurane;
Gultekin, Burak;
Hurdogan, Ozge;
Solakoglu, Seyhun;
Yazici, Halil;
Cefle, Kivanc;
Ozturk, Sukru;
Yildiz, Alaattin

Publication type:

Article

A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.

Published in:

Clinical Rheumatology, 2020, v. 39, n. 3, p. 949, doi. 10.1007/s10067-019-04801-0

By:

Yang, Bo-Yun;
Yu, Han-Xiao;
Min, Jie;
Song, Xiao-Xiao

Publication type:

Article

Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever.

Published in:

Clinical Rheumatology, 2016, v. 35, n. 7, p. 1841, doi. 10.1007/s10067-015-3078-8

By:

Sezer, Ufuk;
Şenyurt, Süleyman;
Özdemir, Eda;
Zengin, Orhan;
Üstün, Kemal;
Erciyas, Kamile;
Kısacık, Bünyamin;
Onat, Ahmet

Publication type:

Article

Does enthesopathy relate to M694V gene mutation in patients with Familial Mediterranean fever?

Published in:

Clinical Rheumatology, 2013, v. 32, n. 11, p. 1593, doi. 10.1007/s10067-013-2316-1

By:

Yılmaz, Ömer;
Kısacık, Bünyamin;
Ozkan, Fuat;
Güven, Gülçimen;
Unlü, Elif;
Pehlivan, Yavuz;
Onat, Ahmet

Publication type:

Article

C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.

Published in:

Clinical Rheumatology, 2012, v. 31, n. 7, p. 1123, doi. 10.1007/s10067-012-1978-4

By:

Topaloglu, Rezan;
Taskiran, Ekim;
Tan, Cagman;
Erman, Baran;
Ozaltin, Fatih;
Sanal, Ozden

Publication type:

Article

Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report.

Published in:

2016

By:

Ratan, Simmi;
Sharma, Anju;
Kapoor, Seema;
Polipalli, Sunil;
Dubey, Divya;
Mishra, Tarun;
Sinha, Shandip;
Agarwal, Satish;
Ratan, Simmi K;
Polipalli, Sunil K;
Mishra, Tarun K;
Sinha, Shandip K;
Agarwal, Satish K

Publication type:

journal article

Expression of human BRCA2 in Saccharomyces cerevisiae complements the loss of RAD52 in double-strand break repair.

Published in:

Current Genetics, 2023, v. 69, n. 4-6, p. 301, doi. 10.1007/s00294-023-01278-y

By:

Law, Sherrice;
Park, Hannah;
Shany, Eyar;
Sandhu, Sumer;
Vallabhaneni, Mayukha;
Meyer, Damon

Publication type:

Article

Amyloids and prions in the light of evolution.

Published in:

Current Genetics, 2023, v. 69, n. 4-6, p. 189, doi. 10.1007/s00294-023-01270-6

By:

Galkin, Alexey P.;
Sysoev, Evgeniy I.;
Valina, Anna A.

Publication type:

Article

Mitochondrial D-loop and Cytochrome Oxidase C subunit I polymorphisms among the breast cancer patients of Mizoram, Northeast India.

Published in:

Current Genetics, 2014, v. 60, n. 3, p. 201, doi. 10.1007/s00294-014-0425-2

By:

Ghatak, Souvik;
Lallawmzuali, Doris;
Lalmawia;
Sapkota, Ricky;
Zothanpuia;
Pautu, Jeremy;
Muthukumaran, Rajendra;
Senthil Kumar, Nachimuthu

Publication type:

Article

Hypodysfibrinogenemia with a Heterozygous Mutation of γCys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus.

Published in:

2017

By:

Ushijima, akiko;
Komai, Taichi;
Masukawa, atsuko;
Oikawa, Keiko;
Morita, Norishige;
asai, Satomi;
Mukai, Saki;
Okumura, Nobuo;
Kobayashi, Yoshinori;
Miyachi, Hayato

Publication type:

Case Study

Muscle glycogen level and occurrence of acid meat in commercial hybrid pigs are regulated by two low-frequency causal variants with large effects and multiple common variants with small effects.

Published in:

Genetics Selection Evolution, 2019, v. 51, n. 1, p. N.PAG, doi. 10.1186/s12711-019-0488-0

By:

Liu, Xianxian;
Zhou, Lisheng;
Xie, Xianhua;
Wu, Zhongzi;
Xiong, Xinwei;
Zhang, Zhiyan;
Yang, Jie;
Xiao, Shijun;
Zhou, Mengqing;
Ma, Junwu;
Huang, Lusheng

Publication type:

Article

Severe Hyperparathyroidism in a 3-year-old girl Due to Homozygous Inactivating Variant of the Calcium Sensing Receptor Gene.

Published in:

2025

By:

Boddu, Sirisha Kusuma;
Mehrotra, Rabindera Nath;
Chakravarthy, Siddhartha

Publication type:

Case Study

Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR.

Published in:

JCEM Case Reports, 2025, v. 3, n. 1, p. 1, doi. 10.1210/jcemcr/luae254

By:

Yamamoto, Shinta;
Nakajima, Hanako;
Okada, Hiroshi;
Nakanishi, Naoko;
Hamaguchi, Masahide;
Fukui, Michiaki

Publication type:

Article

Vitamin D-dependent Rickets Type 1A Mimicking Pseudohypoparathyroidism in Presence of Active Tuberculosis.

Published in:

2024

By:

Das, Sambit;
Agarwal, Vishal;
Prusty, Binod;
Das, Bijay Ketan;
Choudhury, Arun;
Meher, Dayanidhi

Publication type:

Case Study

Giant Intracranial Meningiomas Requiring Surgery in 2 Transgender Women Treated With Cyproterone Acetate.

Published in:

JCEM Case Reports, 2024, v. 2, n. 10, p. 1, doi. 10.1210/jcemcr/luae173

By:

Balcerek, Matthew I;
Hovelroud, Rachel;
Ruhl, Matthew;
Nolan, Brendan J

Publication type:

Article

A Germline ZFX Missense Variant in a Patient With Primary Hyperparathyroidism.

Published in:

JCEM Case Reports, 2024, v. 2, n. 8, p. 1, doi. 10.1210/jcemcr/luae115

By:

Bin Guan;
Agarwal, Sunita K.;
Welch, James M.;
Jha, Smita;
Weinstein, Lee S.;
Simonds, William F.

Publication type:

Article

Spontaneous Adrenal Hemorrhage in a Pregnant Woman With Glucocorticoid Resistance Syndrome.

Published in:

JCEM Case Reports, 2024, v. 2, n. 4, p. 1, doi. 10.1210/jcemcr/luae052

By:

Jagtap, Varsha;
Lila, Anurag;
Karlekar, Manjiri;
Sarathi, Vijaya;
Bandgar, Tushar

Publication type:

Article

Parsing Genetic and Autoimmune Etiology in Premature Ovarian Insufficiency.

Published in:

JCEM Case Reports, 2023, v. 1, n. 6, p. 1, doi. 10.1210/jcemcr/luad124

By:

Nauwynck, Elise;
De Schepper, Jean;
De Vos, Michel;
Staels, Willem

Publication type:

Article

Identification of GBN5 as a molecular biomarker of pan-cancer species by integrated multi-omics analysis.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-01840-9

By:

Guo, Qian;
Zhong, Xinxin;
Dang, Zihan;
Zhang, Baiquan;
Yang, Zixin

Publication type:

Article

The Investigation of the Effects of a Novel Missense Mutation in Katanin-like 2 (KATNAL2) Gene on Microtubulerelated Proteins in Patient Fibroblasts Using a Proteomic Approach.

Published in:

Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi, 2022, v. 32, n. 3, p. 459, doi. 10.4274/terh.galenos.2022.76093

By:

Hız, Ayşe Semra;
Yaramış, Ahmet;
Sönmezler, Ece;
Oktay, Yavuz

Publication type:

Article

A structural and mechanistic model for BSEP dysfunction in PFIC2 cholestatic disease.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07908-0

By:

Gruget, Clémence;
Reddy, Bharat G.;
Moore, Jonathan M.

Publication type:

Article

Site-specific incorporation of <sup>19</sup>F-nuclei at protein C-terminus to probe allosteric conformational transitions of metalloproteins.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07331-x

By:

Liu, Xichun;
Guo, Pengfei;
Yu, Qiufan;
Gao, Shu-Qin;
Yuan, Hong;
Tan, Xiangshi;
Lin, Ying-Wu

Publication type:

Article

Site-specific incorporation of <sup>19</sup>F-nulcei at protein C-terminus to probe allosteric conformational transitions of metalloproteins.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07331-x

By:

Liu, Xichun;
Guo, Pengfei;
Yu, Qiufan;
Gao, Shu-Qin;
Yuan, Hong;
Tan, Xiangshi;
Lin, Ying-Wu

Publication type:

Article

A dominant missense variant within LMBR1 related to equine polydactyly.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07065-w

By:

Luan, Yue;
Zhong, Ling;
Li, Cao;
Yue, Xiaoyu;
Ye, Mengyan;
Wang, Jianpeng;
Zhu, Yiping;
Wang, Qin

Publication type:

Article

Protein kinase 2 of the giant sarcomeric protein UNC-89 regulates mitochondrial morphology and function.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07042-3

By:

Matsunaga, Yohei;
Qadota, Hiroshi;
Ghazal, Nasab;
Lesanpezeshki, Leila;
Dorendorf, Till;
Moody, Jasmine C.;
Ahier, Arnaud;
Matheny, Courtney J.;
Vanapalli, Siva A.;
Zuryn, Steven;
Mayans, Olga;
Kwong, Jennifer Q.;
Benian, Guy M.

Publication type:

Article

La patogenicità delle varianti POC5 documentata nel pesce zebra: un modello animale genetico ben consolidato apre nuovi orizzonti nel primum movens della scoliosi idiopatica adolescenziale (AIS).

Published in:

Giornale di Medicina Militare, 2024, v. 174, n. 1, p. 58

By:

Giuffrida, Carmelo;
Perniola, Michele;
Lisi, Rodolfo;
Cigni, Simone

Publication type:

Article

A cerebralis foláthiányról egy neurodegeneratív betegséget okozó folátreceptor génhiba kapcsán.

Published in:

Gyermekgyógyászat, 2024, v. 75, n. 4, p. 267

By:

Barbara, Patócs;
Rita, Jakus;
András, Fogarasi

Publication type:

Article

5个绵羊群体 GDF9基因多态性与产羔数的关联分析.

Published in:

Journal of Henan Agricultural Sciences, 2021, v. 50, n. 7, p. 161, doi. 10.15933/j.cnki.1004-3268.2021.07.019

By:

邵顺成;
康晓龙;
闫背背;
张天闻;
梁鹏;
邹诗凡;
孟科;
荣轩;
强浩;
冯登侦;
李新海

Publication type:

Article

A Case Report on Congenital Hyperinsulinism Associated with Heterozygous ABCC8 Missense Mutation.

Published in:

Indian Journal of Basic & Applied Medical Research, 2019, v. 8, n. 4, p. 67

By:

N., Yadav;
S., Balan;
V., Gupta;
M., Chakrabarti

Publication type:

Article

梯棱羊肚菌全基因组SNP/Indel 分析及基于Indel 标记的遗传连锁图谱构建.

Published in:

Mycosystema, 2019, v. 38, n. 12, p. 2195, doi. 10.13346/j.mycosystema.190148

By:

刘伟;
张倩倩;
舒芳;
蔡英丽;
马晓龙;
边银丙

Publication type:

Article

Cardiocutaneous syndrome is caused by aggregation of iASPP mutants.

Published in:

Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-02265-z

By:

Lotz, Rebecca;
Osterburg, Christian;
Schäfer, Birgit;
Lu, Xin;
Dötsch, Volker

Publication type:

Article

Critical Considerations in Calling Disease-Causing EDAR Mutations in Nonsyndromic Oligodontia.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 23, p. 7328, doi. 10.3390/jcm13237328

By:

Kim, Youn Jung;
Gu, Se-Young;
Chae, Wonseon;
Kim, Seon Hee;
Kim, Jung-Wook

Publication type:

Article

Anakinra-Dependent Recurrent Pericarditis: The Role of the R202Q Variant of the MEFV Gene.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 20, p. 6051, doi. 10.3390/jcm13206051

By:

Andreis, Alessandro;
Dossi, Federica Currò;
De Ferrari, Gaetano Maria;
Alunni, Gianluca;
Imazio, Massimo

Publication type:

Article

Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 14, p. 4252, doi. 10.3390/jcm13144252

By:

Almatrafi, Ahmad M.;
Alayoubi, Abdulfatah M.;
Alluqmani, Majed;
Hashmi, Jamil A.;
Basit, Sulman

Publication type:

Article

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 6, p. 1751, doi. 10.3390/jcm13061751

By:

García Rabaneda, Carmen;
Bellido Díaz, María Luz;
Morales García, Ana Isabel;
Poyatos Andújar, Antonio Miguel;
Bravo Soto, Juan;
Dayaldasani Khialani, Anita;
Martínez Atienza, Margarita;
Esteban de la Rosa, Rafael Jose

Publication type:

Article

Identification of Novel and Recurrent Variants in BTD , GBE1 , AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1193, doi. 10.3390/jcm13051193

By:

Latif, Muhammad;
Hashmi, Jamil Amjad;
Alayoubi, Abdulfatah M.;
Ayub, Arusha;
Basit, Sulman

Publication type:

Article

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 1, p. 250, doi. 10.3390/jcm13010250

By:

Jain, Kinshuk;
McCarley, Sarah C.;
Mukhtar, Ghazel;
Ferlin, Anna;
Fleming, Andrew;
Morris-Rosendahl, Deborah J.;
Shovlin, Claire L.

Publication type:

Article

Recessive SERPING1 Variant Leads to Kinin–Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 23, p. 7299, doi. 10.3390/jcm12237299

By:

Maia, Luana Sella Motta;
Burger, Bettina;
Ghannam, Arije;
Nunes, Fernanda Leonel;
Ferriani, Mariana Paes Leme;
Dias, Marina Mendonça;
Arruda, Luisa Karla;
Drouet, Christian;
Cichon, Sven

Publication type:

Article

Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up.

Published in:

2023

By:

Tan, Wendy D.;
Odom, J. Vernon;
Leys, Monique

Publication type:

Case Study

Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5002, doi. 10.3390/jcm12155002

By:

Iwasa, Toru;
Urasaki, Akihiro;
Kakihana, Yuki;
Nagata-Akaho, Nami;
Harada, Yukihiro;
Takeda, Soichi;
Kawamura, Teruhisa;
Shiraishi, Isao;
Kurosaki, Kenichi;
Morisaki, Hiroko;
Yamada, Osamu;
Nakagawa, Osamu

Publication type:

Article