Works matching DE "MISSENSE mutation"

Results: 4407

A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1515260

By:

Zhang, Meiling;
Chang, Xiao;
Du, Xiaoyun;
Chen, Zhen;
Zhang, Xinyue;
Cai, Fucheng

Publication type:

Article

Pathogenic missense variants of CSNK2B associated with Poirier-Bienvenu neurodevelopmental disorder impact differently on CK2 holoenzyme formation.

Published in:

Biological Chemistry, 2025, v. 406, n. 3/4, p. 139, doi. 10.1515/hsz-2024-0162

By:

Kavaliova, Hanna;
Lecis, Barbara;
Ballardin, Demetra;
Cobret, Laetitia;
Bienvenu, Thierry;
Morisset-Lopez, Severine;
Rebholz, Heike

Publication type:

Article

Prediction of pathogenic mutations in human transmembrane proteins and their associated diseases via utilizing pre-trained Bio-LLMs.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08452-7

By:

Cao, Lexin;
Quan, Lijun;
Chen, Qiufeng;
Zhang, Bei;
Zhang, Zhijun;
Peng, Liangchen;
Wang, Junkai;
Jiang, Yelu;
Nie, Liangpeng;
Li, Geng;
Wu, Tingfang;
Lyu, Qiang

Publication type:

Article

Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2025, v. 28, n. 4, p. 245, doi. 10.5223/pghn.2025.28.4.245

By:

Shinjie Choi;
Yeji Kim;
Sunwoo Park;
Jeong Eun Ahn;
Lia Kim;
Minsoo Shin;
Kyung Jae Lee;
Jin Soo Moon;
Jae Sung Ko

Publication type:

Article

Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities.

Published in:

PLoS ONE, 2025, v. 20, n. 7, p. 1, doi. 10.1371/journal.pone.0328503

By:

Hakami, Mohammed Ageeli;
Alsaiari, Ahad Amer;
Mohammad, Taj;
Shamsi, Anas

Publication type:

Article

Assessing the pathogenicity of missense single nucleotide polymorphisms in the human FUCA1 gene using multiple bioinformatics tools.

Published in:

International Journal of Medical Biochemistry, 2025, v. 8, n. 3, p. 212, doi. 10.14744/ijmb.2025.02328

By:

Fahim, Israa;
Idris, Hanin;
Alyousef, Rama Almohamad;
Joujeh, Dima

Publication type:

Article

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1360, doi. 10.1002/acn3.70047

By:

Lee, Eun Hye;
Kim‐Mcmanus, Olivia;
Yang, Jennifer H.;
Haas, Richard;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Nakamura, Yuji;
Abdel‐Hamind, Mohamed S.;
Ebrahimi‐Fakhari, Darius;
Alecu, Julian E.;
Brunetti‐Pierri, Nicola;
Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Gross, Stephanie;
Alanay, Yasemin;
Najarzadeh Totbati, Paria;
Yadavilli, Manya;
Friedman, Liana;
Ojeda, Naomi Meave;
Gleeson, Joseph G.

Publication type:

Article

De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01905-y

By:

Chen, Xinying;
Zhao, Xiaoxin;
Pan, Bo;
Wang, Lianyu;
Xie, Wensi;
Jiang, Wenwen;
Yang, Jinghua;
Wu, Weixia;
Li, Yanxin

Publication type:

Article

SCAPER-NTRK2融合突变成人高级别星形细胞瘤 1 例报告并文献复习.

Published in:

Journal of Clinical Neurosurgery / Linchuang Shenjingwaike Zazhi, 2025, v. 22, n. 3, p. 356, doi. 10.3969/j.issn.167-7770.2025.03.022

By:

孙中钱;
申强;
常雷;
孟玮;
王全义;
张军臣

Publication type:

Article

Exploring Missense Variants in the Human PNPLA3 Protein: An In Silico Analysis.

Published in:

Sudan Journal of Medical Sciences, 2025, v. 20, n. 2, p. 205, doi. 10.18502/sjms.v20i2.16301

By:

AbdelGader, Asia Awad;
Al Bakry, Afra M.;
Elnasri, Hind A.;
Yahia, Dawelbiet Abdelaal;
Mohamed Khaier, Mona Abdelrahman

Publication type:

Article

C1-linker region of PARG1 RhoGAP promotes the catalytic recognition fold of RhoA substrate.

Published in:

PLoS ONE, 2025, v. 19, n. 7, p. 1, doi. 10.1371/journal.pone.0326924

By:

Kouchi, Zen;
Kojima, Masaki

Publication type:

Article

Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11787-4

By:

Heo, Jee Yeon;
Kim, Ju Han

Publication type:

Article

Molecular Consequences of a Missense PHF21A Variant, c.1285G > A, Associated With Syndromic Neurodevelopmental Disorder.

Published in:

Cellular & Molecular Neurobiology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10571-025-01584-8

By:

Gavilan, Cecilia M.;
Murata-Nakamura, Yumie;
Porter, Robert;
Cutler, Bradley;
Rai, Sehj;
Kim, Hyung-Goo;
Iwase, Shigeki

Publication type:

Article

Homozygosity for a novel A4GALT allele resulting in the rare p phenotype in an Indian blood donor.

Published in:

Vox Sanguinis, 2025, v. 120, n. 5, p. 509, doi. 10.1111/vox.70000

By:

Tilley, Louise A.;
Karamatic Crew, Vanja;
Tearle, Amy;
Datta, Suvro Sankha;
Thornton, Nicole M.

Publication type:

Article

Novel and recurrent hemizygous variants in BCORL1 cause oligoasthenoteratozoospermia by interfering transcription.

Published in:

Andrology, 2025, v. 13, n. 5, p. 1261, doi. 10.1111/andr.13743

By:

Wang, Yu;
Xiang, Mingfei;
Zhou, Yiru;
Zheng, Na;
Zhang, Jingjing;
Zha, Xiaomin;
Duan, Zongliu;
Wang, Fengsong;
Zhang, Ying;
Wang, Zhongxin;
Cao, Yunxia;
Zhu, Fuxi

Publication type:

Article

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Published in:

Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2025, v. 169, n. 2, p. 98, doi. 10.5507/bp.2025.005

By:

Strych, Lukas;
Zavoral, Tomas;
Komrskova, Pavla;
Vanecek, Tomas;
Subrt, Ivan

Publication type:

Article

From All to One: Can a Large Cohort of Individuals with SCN1A-Related Epilepsy Offer Predictions for Other Individuals With SCN1A Variants?

Published in:

Epilepsy Currents, 2025, v. 25, n. 3, p. 158, doi. 10.1177/15357597251333279

By:

Gerard, Elizabeth E.

Publication type:

Article

Loss of CFHR5 function reduces the risk for age-related macular degeneration.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61193-3

By:

Reeve, Mary Pat;
Loomis, Stephanie;
Nissilä, Eija;
Soare, Thomas W.;
Rausch, Tobias;
Zheng, Zhili;
DELLA BRIOTTA PAROLO, Pietro;
Ben-Isvy, Daniel;
Aho, Elias;
Cesetti, Emilia;
Okunuki, Yoko;
McLaughlin, Helen;
Mäkelä, Johanna;
FinnGen;
Kurki, Mitja;
Talkowski, Michael E.;
Korbel, Jan O.;
Connor, Kip;
Meri, Seppo;
Daly, Mark J.

Publication type:

Article

Brownish-Black Crusts and Erosions all Over the Body.

Published in:

2025

By:

Mishra, Jeebanjyoti;
Bhoi, Aurobinda;
Dash, Siddhartha

Publication type:

Case Study

A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 212, doi. 10.1111/cge.14733

By:

Ahmad, S. Rehan;
Hanafi, Saema

Publication type:

Article

Association of PRKCQ variants with breast cancer susceptibility and clinicopathological features.

Published in:

BMC Cancer, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12885-025-14471-8

By:

Hafeez, Amna;
Shabbir, Maria;
Badshah, Yasmin;
Farooq, Andleeb;
Trembley, Janeen H.;
Afsar, Tayyaba;
Aldisi, Dara;
Razak, Suhail

Publication type:

Article

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

Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 12, p. 5802, doi. 10.3390/ijms26125802

By:

Hay Mele, Bruno;
Rossetti, Federica;
Andreotti, Giuseppina;
Cubellis, Maria Vittoria;
Guerriero, Simone;
Monticelli, Maria

Publication type:

Article

Molecular Screening Reveals De Novo Loss-of-Function NR4A2 Variants in Saudi Children with Autism Spectrum Disorders: A Single-Center Study.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 12, p. 5468, doi. 10.3390/ijms26125468

By:

Alharbi, Najwa M.;
Baaboud, Wejdan F.;
Shawky, Heba;
Alrofaidi, Aisha A.;
Farsi, Reem M.;
Algothmi, Khloud M.;
Hassoubah, Shahira A.;
Basingab, Fatemah S.;
Azhari, Sheren A.;
Alharbi, Mona G.;
Yahya, Reham;
Alhazmi, Safiah

Publication type:

Article

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.

Published in:

Molecules, 2025, v. 30, n. 12, p. 2599, doi. 10.3390/molecules30122599

By:

Hay Mele, Bruno;
Bovenzi, Jessica;
Andreotti, Giuseppina;
Cubellis, Maria Vittoria;
Monticelli, Maria

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