Works matching DE "MISSENSE mutation"

Results: 4337

Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59950-5

By:

Jee, Yon Ho;
Wang, Ying;
Jung, Keum Ji;
Lee, Ji-Young;
Kimm, Heejin;
Duan, Rui;
Price, Alkes L.;
Martin, Alicia R.;
Kraft, Peter

Publication type:

Article

Pharmacogenetic Profiling of Genes Associated with Outcomes of Chemotherapy in Omani Healthy Controls.

Published in:

Genes, 2025, v. 16, n. 5, p. 592, doi. 10.3390/genes16050592

By:

Al-Mahrouqi, Nahad;
Al Shuaili, Nada;
Al-Zadjali, Shoaib;
Pullanhi, Anoopa;
Al-Barwani, Hamida;
Al-Kindy, Aida;
Al-Sharqi, Hadeel;
Al-Baimani, Khalid;
Al-Moundhri, Mansour;
Salman, Bushra

Publication type:

Article

The Role of Artificial Intelligence in Identifying NF1 Gene Variants and Improving Diagnosis.

Published in:

Genes, 2025, v. 16, n. 5, p. 560, doi. 10.3390/genes16050560

By:

Grech, Vasiliki Sofia;
Lotsaris, Kleomenis;
Touma, Theano Eirini;
Kefala, Vassiliki;
Rallis, Efstathios

Publication type:

Article

Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study.

Published in:

2025

By:

Sirica, Roberto;
Ottaiano, Alessandro;
Brasi, Daniele De;
Marcella, Simone;
Acquaviva, Fabio;
Ianniello, Monica;
Petrillo, Nadia;
De Angelis, Valentina;
Ruggiero, Raffaella;
D'Angelo, Rossana;
Evangelista, Eloisa;
Fico, Antonio;
Savarese, Giovanni

Publication type:

Case Study

Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4925, doi. 10.3390/ijms26104925

By:

Kanwal, Ambreen;
Zulfiqar, Rimsha;
Cheema, Husnain Arshad;
Jabbar, Nauman;
Iftikhar, Amina;
Butt, Amina Iftikhar;
Sheikh, Sohail A.;
Pardo, Jose V.;
Naz, Sadaf

Publication type:

Article

KCNH3 Loss-of-Function Variant Associated with Epilepsy and Neurodevelopmental Delay Enhances Kv12.2 Channel Inactivation.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4631, doi. 10.3390/ijms26104631

By:

Bauer, Christiane K.;
Bilet, Arne;
Harms, Frederike L.;
Bähring, Robert

Publication type:

Article

Identification of a rare variant in TNNT3 responsible for familial dilated cardiomyopathy through whole-exome sequencing and in silico analysis.

Published in:

European Journal of Medical Research, 2025, v. 30, n. 1, p. 1, doi. 10.1186/s40001-025-02692-3

By:

Jadidi, Motahareh;
Babaali, Vida;
InanlooRahatloo, Kolsoum;
Salehi, Najmeh;
Mollazadeh, Reza

Publication type:

Article

A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 10, p. 1191, doi. 10.1038/nsmb.2666

By:

Jeyasekharan, Anand D;
Liu, Yang;
Hattori, Hiroyoshi;
Pisupati, Venkat;
Jonsdottir, Asta Bjork;
Rajendra, Eeson;
Lee, Miyoung;
Sundaramoorthy, Elayanambi;
Schlachter, Simon;
Kaminski, Clemens F;
Ofir-Rosenfeld, Yaara;
Sato, Ko;
Savill, Jane;
Ayoub, Nabieh;
Venkitaraman, Ashok R

Publication type:

Article

Novel Missense Mutation in GJB1 Gene Leading to X-linked Charcot–Marie–Tooth Disease in Young Male: A Case Report.

Published in:

Neurology India, 2024, v. 72, n. 5, p. 1081, doi. 10.4103/neurol-india.NI_837_19

By:

Patra, Priyanka

Publication type:

Article

A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.

Published in:

Neurology India, 2023, v. 71, n. 5, p. 980, doi. 10.4103/0028-3886.388124

By:

Hosur, Bharat;
Sinha, Rahul;
Jain, Narendra K.;
Muthanna, Boverianda Aiyanna;
Bansal, Vandana;
Singh, Sonali;
Kamila, Gautam

Publication type:

Article

Novel variants of FSIP2 and SPEF2 cause varying degrees of spermatozoa damage in MMAF patients and favorable ART outcomes.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 3, p. 977, doi. 10.1007/s10815-024-03378-1

By:

Dai, Cong-Ling;
Yin, Xin-Yu;
Peng, Zi-Yan;
Lin, Hao;
Zhang, Pan;
Liu, Gang;
Li, Wei-Na

Publication type:

Article

Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 147, doi. 10.1007/s10815-023-02986-7

By:

Xiao, Yanqin;
Cheng, Dehua;
Luo, Keli;
Li, Mengge;
Tan, Yueqiu;
Lin, Ge;
Hu, Liang

Publication type:

Article

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 135, doi. 10.1007/s10815-023-02981-y

By:

Jordan, Pénélope;
Verebi, Camille;
Perol, Sandrine;
Grotto, Sarah;
Fouveaut, Corinne;
Christin-Maitre, Sophie;
de la Perrière, Aude Brac;
Grouthier, Virginie;
Jonard-Catteau, Sophie;
Touraine, Philippe;
PLU-Bureau, Geneviève;
Dupont, Jean Michel;
El Khattabi, Laila;
Bienvenu, Thierry

Publication type:

Article

A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 109, doi. 10.1007/s10815-023-02966-x

By:

Ali, Asim;
Unar, Ahsanullah;
Muhammad, Zubair;
Dil, Sobia;
Zhang, Beibei;
Sadaf, Humaira;
Khan, Manan;
Ali, Muhammad;
Khan, Ranjha;
Shah, Kakakhel Mian Basit;
Ma, Ao;
Jiang, Xiaohua;
Zhang, Yuanwei;
Zhang, Huan;
Shi, Qinghua

Publication type:

Article

Novel mutations in ZP2 and ZP3 cause female infertility in three patients.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 5, p. 1205, doi. 10.1007/s10815-022-02466-4

By:

Jia, Weimin;
Xi, Qingsong;
Zhu, Lixia;
Luo, Yalin;
Li, Zhou;
Hou, Meiqi;
Zhang, Dazhi;
Yang, Xue;
Hu, Juan;
Jin, Lei;
Zhang, Xianqin

Publication type:

Article

A novel homozygous missense mutation in AK7 causes multiple morphological anomalies of the flagella and oligoasthenoteratozoospermia.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 1, p. 261, doi. 10.1007/s10815-021-02363-2

By:

Xiang, Mingfei;
Wang, Yu;
Xu, Weilong;
Zheng, Na;
Deng, Hongshi;
Zhang, Jingjing;
Duan, Zongliu;
Zha, Xiaomin;
Zhang, Wenjun;
Song, Gaojie;
Shi, Xuanming;
Wang, Fengsong;
Cao, Yunxia;
Zhu, Fuxi

Publication type:

Article

A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 12, p. 3261, doi. 10.1007/s10815-021-02340-9

By:

Liu, Ruyi;
Zhou, Yifan;
Li, Qiaoli;
Chen, Biaobang;
Zhou, Zhou;
Wang, Lan;
Wang, Lei;
Sang, Qing;
Jin, Lei

Publication type:

Article

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 7, p. 1879, doi. 10.1007/s10815-021-02132-1

By:

Aguinaga, Mónica;
Rezaei, Maryam;
Monroy, Irma;
Mechtouf, Nawel;
Pérez, Javier;
Moreno, Elsa;
Valdespino, Yolotzin;
Galaz, Carolina;
Razo, Guadalupe;
Medina, Daniela;
Piña, Raúl;
Slim, Rima

Publication type:

Article

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 4, p. 949, doi. 10.1007/s10815-021-02075-7

By:

Lu, Mengmeng;
Kong, Shuai;
Xiang, Mingfei;
Wang, Yu;
Zhang, Jingjing;
Duan, Zongliu;
Zha, Xiaomin;
Wang, Fengsong;
Cao, Yunxia;
Zhu, Fuxi

Publication type:

Article

Deep sequencing shows that accumulation of potentially pathogenic mtDNA mutations rather than mtDNA copy numbers may be associated with early embryonic loss.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 9, p. 2181, doi. 10.1007/s10815-020-01893-5

By:

Ji, Licheng;
Liao, Tingting;
Yang, Juan;
Su, Houming;
Song, Jianyuan;
Qian, Kun

Publication type:

Article

Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 443, doi. 10.1007/s10815-019-01675-8

By:

Peng, Tianliu;
Lv, Chao;
Tan, Hangjing;
Huang, Jiafeng;
He, Hailun;
Wang, Yan;
Zeng, Minghua;
Yi, Dajing;
Li, Jie;
Deng, Hongwen;
Shi, Xiaobo;
Xiao, Hongmei

Publication type:

Article

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 437, doi. 10.1007/s10815-019-01653-0

By:

Lin, Jing;
Xu, Hua;
Chen, Biaobang;
Wang, Wenjing;
Wang, Lei;
Sun, Xiaoxi;
Sang, Qing

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

Homozygous missense mutation Arg207Cys in the WEE2 gene causes female infertility and fertilization failure.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 5, p. 965, doi. 10.1007/s10815-019-01418-9

By:

Yang, Xiaoyu;
Shu, Li;
Cai, Lingbo;
Sun, Xueping;
Cui, Yugui;
Liu, Jiayin

Publication type:

Article

Identification of a novel m.9588G > A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 5, p. 595, doi. 10.1007/s10815-014-0187-2

By:

Baklouti-Gargouri, Siwar;
Ghorbel, Myriam;
Ben Mahmoud, Afif;
Mkaouar-Rebai, Emna;
Cherif, Meriam;
Chakroun, Nozha;
Sellami, Afifa;
Fakhfakh, Faiza;
Ammar-Keskes, Leila

Publication type:

Article

Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours.

Published in:

Veterinary & Comparative Oncology, 2017, v. 15, n. 3, p. 1051, doi. 10.1111/vco.12246

By:

Sabattini, S.;
Barzon, G.;
Giantin, M.;
Lopparelli, R. M.;
Dacasto, M.;
Prata, D.;
Bettini, G.

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

Cystic fibrosis in Pakistan: population harbouring rare variants non-responsive to CFTR modulators and the dilemma of poor health facilities.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10258-z

By:

Safdar, Anum;
Ghani, Muhammad Usman;
Bano, Iqbal;
Mehmood, Tahir;
Rafique, Hassan;
Sabar, Muhammad Farooq;
Akbar, Ali;
Shaikh, Rehan Sadiq

Publication type:

Article

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10183-7

By:

Bibi, Hadiba;
Ahmad, Riaz;
Rahman, Fatima;
Maqbool, Shazia;
Naeem, Muhammad;
Efthymiou, Stephanie;
Houlden, Henry

Publication type:

Article

Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10085-8

By:

Ahmad, Riaz;
Sayyad, Filza;
Naeem, Muhammad;
Houlden, Henry

Publication type:

Article

The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia.

Published in:

Molecular Biology Reports, 2024, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10133-3

By:

Gervas, Polina;
Molokov, Aleksey;
Babyshkina, Nataliya;
Zherebnova, Anna;
Choynzonov, Evgeny;
Cherdyntseva, Nadezda

Publication type:

Article

A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09603-5

By:

Ouarhache, Maryem;
Kettani, Oussama;
Fizazi, Khawla El;
Bouguenouch, Laila;
Ouldim, Karim

Publication type:

Article

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4

By:

Liampas, Andreas;
Nicolaou, Paschalis;
Votsi, Christina;
Georghiou, Anthi;
Christodoulou, Kyproula;
Tanteles, George A;
Pantzaris, Marios

Publication type:

Article

Wilson disease missense mutations in ATP7B affect metal-binding domain structural dynamics.

Published in:

BioMetals, 2019, v. 32, n. 6, p. 875, doi. 10.1007/s10534-019-00219-y

By:

Shanmugavel, Kumaravel Ponnandai;
Kumar, Ranjeet;
Li, Yaozong;
Wittung-Stafshede, Pernilla

Publication type:

Article

European Hedgehogs (Erinaceus europaeus L.) as a Reservoir of Dermatophytes in Poland.

Published in:

Microbial Ecology, 2022, v. 84, n. 2, p. 363, doi. 10.1007/s00248-021-01866-w

By:

Gnat, Sebastian;
Łagowski, Dominik;
Dyląg, Mariusz;
Nowakiewicz, Aneta

Publication type:

Article

Deletion of obscurin immunoglobulin domains Ig58/59 leads to age-dependent cardiac remodeling and arrhythmia.

Published in:

Basic Research in Cardiology, 2020, v. 115, n. 6, p. N.PAG, doi. 10.1007/s00395-020-00818-8

By:

Grogan, Alyssa;
Coleman, Andrew;
Joca, Humberto;
Granzier, Henk;
Russel, Mark W.;
Ward, Christopher W.;
Kontrogianni-Konstantopoulos, Aikaterini

Publication type:

Article

Investigating the differential structural organization and gene expression regulatory networks of lamin A Ig fold domain mutants of muscular dystrophy.

Published in:

Biochemical Journal, 2024, v. 481, n. 23, p. 1803, doi. 10.1042/BCJ20240474

By:

Dutta, Subarna;
Kumar, Vikas;
Barua, Arnab;
Vasudevan, Madavan

Publication type:

Article

Yop1 stability and membrane curvature generation propensity are controlled by its oligomerisation interface.

Published in:

Biochemical Journal, 2024, v. 481, n. 20, p. 1437, doi. 10.1042/BCJ20240190

By:

Chandran, Anu V.;
Álvarez, Daniel;
Vanni, Stefano;
Schnell, Jason R.

Publication type:

Article

Biochemical and structural impact of two novel missense mutations in cystathionine γ-synthase gene associated with homocystinuria.

Published in:

Biochemical Journal, 2024, v. 481, n. 8, p. 569, doi. 10.1042/BCJ20240012

By:

Al-Sadeq, Duaa W.;
Conter, Carolina;
Thanassoulas, Angelos;
Al-Dewik, Nader;
Safieh-Garabedian, Bared;
Martínez-Cruz, Luis Alfonso;
Nasrallah, Gheyath K.;
Astegno, Alessandra;
Nomikos, Michail

Publication type:

Article

PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the COR<sub>B</sub> GTPase domain.

Published in:

Biochemical Journal, 2022, v. 479, n. 18, p. 1941, doi. 10.1042/BCJ20220308

By:

Malik, Asad U.;
Karapetsas, Athanasios;
Nirujogi, Raja S.;
Chatterjee, Deep;
Phung, Toan K.;
Wightman, Melanie;
Gourlay, Robert;
Morrice, Nick;
Mathea, Sebastian;
Knapp, Stefan;
Alessi, Dario R.

Publication type:

Article

PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the COR<sub>B</sub> GTPase domain.

Published in:

Biochemical Journal, 2022, v. 479, n. 17, p. 1941, doi. 10.1042/BCJ20220308

By:

Malik, Asad U.;
Karapetsas, Athanasios;
Nirujogi, Raja S.;
Chatterjee, Deep;
Phung, Toan K.;
Wightman, Melanie;
Gourlay, Robert;
Morrice, Nick;
Mathea, Sebastian;
Knapp, Stefan;
Alessi, Dario R.

Publication type:

Article

INTEGRATE-neo: a pipeline for personalized gene fusion neoantigen discovery.

Published in:

Bioinformatics, 2017, v. 33, n. 4, p. 555, doi. 10.1093/bioinformatics/btw674

By:

Jin Zhang;
Mardis, Elaine R.;
Maher, Christopher A.

Publication type:

Article

Retro: concept-based clustering of biomedical topical sets.

Published in:

Bioinformatics, 2014, v. 30, n. 22, p. 3240, doi. 10.1093/bioinformatics/btu514

By:

Yeganova, Lana;
Kim, Won;
Kim, Sun;
Wilbur, W. John

Publication type:

Article

mCSM: predicting the effects of mutations in proteins using graph-based signatures.

Published in:

Bioinformatics, 2014, v. 30, n. 3, p. 335, doi. 10.1093/bioinformatics/btt691

By:

Pires, Douglas E. V.;
Ascher, David B.;
Blundell, Tom L.

Publication type:

Article

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

Predicting the functional consequences of cancer-associated amino acid substitutions.

Published in:

Bioinformatics, 2013, v. 29, n. 12, p. 1504, doi. 10.1093/bioinformatics/btt182

By:

Shihab, Hashem A.;
Gough, Julian;
Cooper, David N.;
Day, Ian N. M.;
Gaunt, Tom R.

Publication type:

Article

A novel missense-mutation-related feature extraction scheme for ‘driver’ mutation identification.

Published in:

Bioinformatics, 2012, v. 28, n. 22, p. 2948, doi. 10.1093/bioinformatics/bts558

By:

Tan, Hua;
Bao, Jiguang;
Zhou, Xiaobo

Publication type:

Article

MET Exon 14 Variants in Non-Small Cell Lung Carcinoma: Prevalence, Clinicopathologic and Molecular Features.

Published in:

Journal of Molecular Pathology, 2023, v. 4, n. 1, p. 46, doi. 10.3390/jmp4010006

By:

Lisi Yuan;
Mehrotra, Harshita;
Xin He;
Bosler, David

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

Integrated multi-omics characterization of SMAD4 mutant colorectal cancer.

Published in:

Discover Oncology, 2024, v. 15, n. 1, p. 1, doi. 10.1007/s12672-024-01268-7

By:

Zhao, Danyi;
Qu, Yanjun;
Gao, Na;
Wu, Tao

Publication type:

Article