Works about MISSENSE mutation

Results: 4375

A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia.

Published in:

2025

By:

Barua, Subit;
Murty, Vundavalli V.;
Iglesias, Alejandro;
Liao, Jun

Publication type:

Case Study

Neurodegeneration, Intracranial Calcifications, Microcephaly and Drug-Resistant Epilepsy Caused by a Novel Homozygous Missense Variant in the NRROS Gene: A Case Report.

Published in:

2025

By:

Al-Omari, Mohammed A

Publication type:

Case Study

A novel missense variant in the RELN gene in sheep with lissencephaly and cerebellar hypoplasia.

Published in:

Veterinary Pathology, 2025, v. 62, n. 4, p. 522, doi. 10.1177/03009858241283501

By:

Manning, Leah K.;
Winkenwerder, Emily;
Baskind, Louise;
Eager, Katie L. M.;
Willet, Cali E.;
Porebski, Ben;
O'Rourke, Brendon A.;
Tammen, Imke;
Gimeno, Marina;
Pinczowski, Pedro

Publication type:

Article

German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway.

Published in:

GeroScience, 2025, v. 47, n. 3, p. 4955, doi. 10.1007/s11357-025-01640-7

By:

Kolbe, Daniel;
Dose, Janina;
Putter, Pasquale;
Ziemann, Malte;
Laudes, Matthias;
Slagboom, P. Eline;
Franke, Andre;
Deelen, Joris;
Nebel, Almut

Publication type:

Article

A VWF missense variant in Havanese dogs with type 3 von Willebrand disease.

Published in:

Animal Genetics, 2025, v. 56, n. 3, p. 1, doi. 10.1111/age.70021

By:

Armas‐Jimenez, Arly‐Camila;
Randolph, Alina;
Clark, Leigh Anne;
Evans, Jacquelyn M.;
Brooks, Marjory B.;
Goggs, Robert

Publication type:

Article

Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report.

Published in:

2025

By:

Krug, Amelie;
Perlot, Pascale;
Empain, Aurelie;
Vilain, Catheline;
Monier, Anne;
Tazi, Kaoutar;
De Laet, Corinne

Publication type:

Case Study

Rare SV2C coding variants in Parkinson's disease risk.

Published in:

Journal of Parkinson's Disease, 2025, v. 15, n. 1, p. 66, doi. 10.1177/1877718X241300298

By:

Chang, Chu Hua;
Chew, Elaine Guo Yan;
Lian, Michelle Mulan;
Tandiono, Moses;
Li, Zheng;
Chung, Sun Ju;
Tan, Louis CS;
Au, Wing-Lok;
Prakash, Kumar M;
Ahmad-Annuar, Azlina;
Tan, Ai Huey;
Mok, Vincent;
Chan, Anne YY;
Lin, Juei-Jueng;
Jeon, Beom S;
Khor, Chiea Chuen;
Lim, Shen-Yang;
Tan, Eng-King;
Foo, Jia Nee

Publication type:

Article

Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population.

Published in:

Journal of Parkinson's Disease, 2022, v. 12, n. 6, p. 1917, doi. 10.3233/JPD-223337

By:

Li, Chunyu;
Ou, Ruwei;
Hou, Yanbing;
Chen, Yongping;
Wei, Qianqian;
Zhang, Lingyu;
Lin, Junyu;
Liu, Kuncheng;
Huang, Jingxuan;
Chen, Xueping;
Song, Wei;
Zhao, Bi;
Wu, Ying;
Shang, Huifang

Publication type:

Article

VPS35, the Retromer Complex and Parkinson's Disease.

Published in:

Journal of Parkinson's Disease, 2017, v. 7, n. 2, p. 219, doi. 10.3233/JPD-161020

By:

Williams, Erin T.;
Xi Chen;
Moore, Darren J.

Publication type:

Article

Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2046, doi. 10.1111/epi.18346

By:

Rong, Marlene;
Marques, Paula T.;
Ali, Quratulain Zulfiqar;
Morcos, Ricardo;
Chandran, Ilakkiah;
Qaiser, Farah;
Møller, Rikke S.;
Bayat, Allan;
Rubboli, Guido;
Gardella, Elena;
Reuter, Miriam S.;
Sands, Tristan T.;
Scheffer, Ingrid E.;
Schneider, Amy;
Poduri, Annapurna;
Wirrell, Elaine;
Nabbout, Rima;
Sullivan, Joseph;
Valente, Kette;
Auvin, Stéphane

Publication type:

Article

Genotype–phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1598907

By:

Yuan, Yunyun;
Zhao, Ya;
Meng, Lingqiang;
Zheng, Shuyun;
Li, Hui;
Ren, Jiabao;
Li, Beibei;
Dou, Chenyun;
Hou, Yan;
Chen, Wenjing;
Zhang, Jing;
Ding, Yulin;
Shen, Wenjing

Publication type:

Article

Association of genetic variants, protein domains, and phenotypes in the ZMIZ1 syndromic neurodevelopmental disorder.

Published in:

Frontiers in Neuroscience, 2025, p. 1, doi. 10.3389/fnins.2025.1605762

By:

Cormier, Kendall E.;
Kantor, Belle L.;
K C, Rajan;
Blanco-Fernandez, Xabier;
Galazo, Maria J.

Publication type:

Article

Missense variants pathogenicity annotation from homologous proteins Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 5, p. 1, doi. 10.1093/bioinformatics/btaf305

By:

Ruiz-Alías, Gabriel;
Soldevila, Sergi;
Altafaj, Xavier;
Cordomí, Arnau;
Olivella, Mireia

Publication type:

Article

Variante rs12998 del gen supresor de metástasis KISS1 en pacientes mexicanos con cáncer de próstata.

Published in:

Boletín del Colegio Mexicano de Urología, 2025, v. 39, n. 2, p. 56, doi. 10.24875/BCMU.24000043

By:

Mimendi-Aguilar, Gabriela M.;
Hernández-Preciado, Martha R.;
Juárez-Ozuna, Jesús A.;
Dávalos-Rodríguez, Ingrid P.;
Sierra-Díaz, Erick;
Morán-Moguel, Maria C.

Publication type:

Article

rs12998 variant of the KISS1 metastasis suppressor gene in Mexican patients with prostate cancer.

Published in:

Boletín del Colegio Mexicano de Urología, 2025, v. 39, n. 2, p. 51, doi. 10.24875/BCMU.M24000017

By:

Mimendi-Aguilar, Gabriela M.;
Hernández-Preciado, Martha R.;
Juárez-Ozuna, Jesús A.;
Dávalos-Rodríguez, Ingrid P.;
Sierra-Díaz, Erick;
Morán-Moguel, Maria C.

Publication type:

Article

An in silico approach for the identification of detrimental missense SNPs and their potential impacts on human CRY2 protein.

Published in:

Journal of the Bangladesh Academy of Sciences, 2025, v. 49, n. 1, p. 57, doi. 10.3329/jbas.v49i1.71914

By:

Khan, Auroni Semonti;
Akter, Mahmuda;
Enni, Mansura Akter;
Khan, Sumaiya Farah

Publication type:

Article

Infertile females with biallelic mutations in APC/C genes are characterized by oocyte or early embryo defects.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 5, p. 1587, doi. 10.1007/s10815-025-03465-x

By:

Cui, Ying;
Zhao, Shuai;
Zhang, Changlong;
Su, Wei;
Chen, Xiaolei;
Wang, Yang;
Yang, Bohan;
Wu, Keliang;
Chen, Zi-Jiang;
Zhang, Honghui;
Zhao, Han

Publication type:

Article

Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2 †.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5232, doi. 10.3390/ijms26115232

By:

Lapalus, Martine;
Mareux, Elodie;
Amzal, Rachida;
Drège, Emmanuelle;
Riahi, Yosra;
Petit, Sylvain;
Banet, Manon;
Falguières, Thomas;
Callebaut, Isabelle;
Figadère, Bruno;
Joseph, Delphine;
Gonzales, Emmanuel;
Jacquemin, Emmanuel

Publication type:

Article

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 668, doi. 10.1111/cge.14690

By:

Morais, Sara;
Leal Loureiro, José;
Brandão, Eva;
Sequeiros, Jorge;
Stevanin, Giovanni;
Santos, Mariana

Publication type:

Article

First Report of THOC6 Mutation in a Pakistani Family with Beaulieu-Boycott-Innes Syndrome.

Published in:

Pakistan Journal of Zoology, 2025, v. 57, n. 3, p. 1477, doi. 10.17582/journal.pjz/20230510120528

By:

Rashid, Muhammad;
Usman, Muhammad;
Khan, Asma Ali

Publication type:

Article

In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.

Published in:

Biochemical Genetics, 2025, v. 63, n. 3, p. 2489, doi. 10.1007/s10528-024-10836-z

By:

Vetriselvan, Yogesh;
Manoharan, Aarthi;
Murugan, Manoranjani;
Jayakumar, Swetha;
Govindasamy, Chandramohan;
Ravikumar, Sambandam

Publication type:

Article

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1566740

By:

Guoliang, You;
Zhaoxia, Wang;
Lin, Zhang;
Xuan, Chen;
Xiaodong, Zhang;
Xiaolian, Xing;
Yangli, Su;
Tianli, Zhang;
Yanping, Zhu;
Jiangping, Wang;
Qing, Liu

Publication type:

Article

A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant.

Published in:

2025

By:

Cai, Haoyu;
Huang, Xu'an;
Chen, Haojie;
Zhao, Junduo;
Sun, Heng;
Huang, Yizhen;
Guo, Jiayue;
Shen, Jianxiong

Publication type:

Case Study

Identification of heterozygous mutations of ABCC8 gene responsible for maturity-onset diabetes of the young with exome sequencing.

Published in:

Acta Diabetologica, 2025, v. 62, n. 6, p. 935, doi. 10.1007/s00592-024-02410-1

By:

Liu, Yanxia;
Ren, Shuxin;
Zhu, Chaofeng;
Chen, Sufang;
Zhang, Huijuan;
Zhang, Juan;
Li, Jianhua;
Jiang, Yanyan

Publication type:

Article

Impact of a Missense Mutation in TRAPPC12 in Patients with Progressive Encephalopathy, Brain Atrophy and Spasticity Phenotype without Microcephaly and Epilepsy.

Published in:

Experimed, 2025, v. 15, n. 1, p. 41, doi. 10.26650/experimed.1584823

By:

Goncu, Beyza;
Sayin, Gozde Yesil;
Aslanger, Ayca Dilruba;
Yucesan, Emrah

Publication type:

Article

Contributing to the Functional Classification of Missense Variants in RAG1 Protein from Structural Perspective.

Published in:

Experimed, 2025, v. 15, n. 1, p. 31, doi. 10.26650/experimed.1562959

By:

Kutlu, Asli;
Isikgil, Begum;
Firtina, Sinem

Publication type:

Article

PML mutants from arsenic-resistant patients reveal SUMO1-TOPORS and SUMO2/3-RNF4 degradation pathways.

Published in:

Journal of Cell Biology, 2025, v. 224, n. 6, p. 1, doi. 10.1083/jcb.202407133

By:

Jaffray, Ellis G.;
Tatham, Michael H.;
Mojsa, Barbara;
Plechanovová, Anna;
Rojas-Fernandez, Alejandro;
Liu, Julio C. Y.;
Mailand, Niels;
Ibrahim, Adel F. M.;
Ball, Graeme;
Porter, Iain M.;
Hay, Ronald T.

Publication type:

Article

TP53‐Mutated Acute Myeloid Leukemia and Blast Phase Myeloproliferative Neoplasm: Distinct Mutation Leads to Poorer Prognosis.

Published in:

European Journal of Haematology, 2025, v. 115, n. 1, p. 57, doi. 10.1111/ejh.14421

By:

Chen, Dong;
Cantu, Miguel;
Siddon, Alexa;
Weinberg, Olga K.

Publication type:

Article

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1707, doi. 10.1093/brain/awae371

By:

Dofash, Lein N H;
Miles, Lee B;
Saito, Yoshihiko;
Rivas, Eloy;
Calcinotto, Vanessa;
Oveissi, Sara;
Serrano, Rita J;
Templin, Rachel;
Ramm, Georg;
Rodger, Alison;
Haywood, Joel;
Ingley, Evan;
Clayton, Joshua S;
Taylor, Rhonda L;
Folland, Chiara L;
Groth, David;
Hock, Daniella H;
Stroud, David A;
Gorokhova, Svetlana;
Donkervoort, Sandra

Publication type:

Article

VPS13D-related disorders: a severe case, review, and genotype–phenotype correlation.

Published in:

2025

By:

Liu, Wei-Liang;
Li, Fang

Publication type:

Case Study

DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder.

Published in:

2025

By:

Gazeteci Tekin, Hande;
Edem, Pınar

Publication type:

Case Study

Development of a novel and viable knock-in factor V deficiency murine model: Utility for an ultra-rare disease.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0321864

By:

De Pablo-Moreno, Juan A.;
González-Brusi, Leopoldo;
Miguel-Batuecas, Andrea;
Bermejo-Álvarez, Pablo;
Revuelta, Luis;
Liras, Antonio

Publication type:

Article

Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 363, doi. 10.1007/s00335-024-10098-5

By:

Zbikowski, Arkadiusz;
Kowalczyk, Tomasz;
Kasparek, Petr;
Prohazka, Jan;
Sedlacek, Radislav;
Ciborowski, Michał;
Cysewski, Dominik;
Łukasiewicz, Kacper

Publication type:

Article

First Report of Streptococcus agalactiae Meningitis in a Non-Pregnant Adult in Italy.

Published in:

Microorganisms, 2025, v. 13, n. 5, p. 978, doi. 10.3390/microorganisms13050978

By:

Borriello, Giorgia;
Fusco, Giovanna;
Greco, Francesca;
Mauro, Maria Vittoria;
Barca, Lorella;
Limone, Antonio;
Garzi Cosentino, Maria;
Campione, Agata;
Rinaldi, Antonio;
Dodaro, Saveria;
De Carlo, Esterina;
Greco, Sonia;
Vangeli, Valeria;
Paradiso, Rubina;
Mastroianni, Antonio

Publication type:

Article

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

Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy.

Published in:

Cell Death Discovery, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41420-025-02442-8

By:

Yao, Shi-Qi;
Liang, Jia-Jian;
Zhou, Hui;
Tan, Shaoying;
Cao, Yingjie;
Chen, Chong-Bo;
Xu, Ciyan;
Wang, Ruixi;
Li, Tai-Ping;
Zhao, Fang-Fang;
Wang, Yun;
He, Han-Jie;
Zhang, Dan;
Wang, Meng;
Liu, Lifang;
Yu-Wai-Man, Patrick;
Wei, Shihui;
Cen, Ling-Ping

Publication type:

Article

Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1583838

By:

Lee, Derek P. H.;
Cao, Ye;
Zhang, Lilei

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

CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02168-7

By:

Singla, Amika;
Rogers, Carolyn;
Touma, Mary-Joe;
El-Najjar, Yassin;
Colley, Alison;
Boesch, Daniel J.;
Billadeau, Daniel D.;
Gecz, Jozef;
Chen, Baoyu;
Burstein, Ezra

Publication type:

Article

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

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03792-3

By:

Rasmussen, Ditte K.;
Sun, Young Joo;
Franco, Joel A.;
Kumar, Aarushi;
Vu, Jennifer T.;
Bassuk, Alexander G.;
Mahajan, Vinit B.

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