Works matching DE "GENETIC variation"

Results: 5000

Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.

Published in:

Oxford Medical Case Reports, 2025, v. 2025, n. 4, p. 1, doi. 10.1093/omcr/omae166

By:

Haddad, Salim;
Salloum, Elie;
Silan, Abdullah;
kalecioğlu, Gazel;
Abdulnour, Maria;
Haddad, Sultaneh;
Alasmar, Diana;
Alayash, Mahmoud;
Ghaleb, Ahmed Noman

Publication type:

Article

The impact of genetic variations in retinoid X receptor alpha on the risk and prognosis of HPV‐negative oral carcinoma.

Published in:

European Journal of Oral Sciences, 2025, v. 133, n. 3, p. 1, doi. 10.1111/eos.70015

By:

Pandzic, Dragan;
Supic, Gordana;
Misic, Debora;
Curcin, Aleksandra Petkovic;
Jovic, Sasa;
Brkic, Marko;
Kozomara, Zoran;
Djurdjevic, Katarina;
Stosic, Srboljub;
Kozomara, Ruzica

Publication type:

Article

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03800-6

By:

Zhang, Chuan;
Yan, Yousheng;
Zhou, Bingbo;
Gao, Huimin;
Jin, Xiaohua;
Hui, Ling;
Hao, Shengju;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03807-z

By:

Fei, Hongjun;
Han, Xu;
Chen, Yiyao;
Xu, Yan;
Chang, Chunxin;
Li, Ming;
Wang, Yanlin;
Wang, Jian;
Li, Niu;
Li, Shuyuan

Publication type:

Article

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Published in:

Leukemia & Lymphoma, 2025, v. 66, n. 6, p. 1058, doi. 10.1080/10428194.2025.2453093

By:

Jeong, Yoonseo

Publication type:

Article

Bibliometric Analysis of Genetic Variations in Schizophrenia.

Published in:

Jordan Medical Journal, 2025, v. 59, n. 2, p. 274, doi. 10.35516/jmj.v59i2.259

By:

Azman, Norainin Sofiya;
Abd Rahim, Nour El Huda;
Abdull Jalil, Mohd Asyraf;
Talib, Norlelawati A.;
Mat Rasid, Siti Norain;
Salahudin Wan Salleh, Wan Muhamad;
Arifin, Kaderi Mohd;
Ahmad Nabil, Md Rosli;
Norbaiyah, Mohamed Bakrim

Publication type:

Article

Elective course on genetic variability and drug response for medical students.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Pelier-Orduñez, Yanexis;
Quintero-Lores, Carina María;
Matos-Laffita, Denny;
Beatriz Matos-Pérez, Roxaidis;
Ysabel Legrá-Pelier, Déborah

Publication type:

Article

Curso electivo sobre variabilidad genética y respuesta a fármacos para estudiantes de medicina.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Pelier-Orduñez, Yanexis;
Quintero-Lores, Carina María;
Matos-Laffita, Denny;
Beatriz Matos-Pérez, Roxaidis;
Ysabel Legrá-Pelier, Déborah

Publication type:

Article

Identification of Ferroptosis‐Related Genes Associated With Cryptorchidism via Bioinformatics and Experimental Verification.

Published in:

Genetics Research, 2025, v. 2025, p. 1, doi. 10.1155/genr/7355474

By:

Du, Tian;
Ge, Yifeng;
Zhou, Zheng;
Jing, Jun;
Feng, Yuming;
Ding, Hualong;
Ma, Jinzhao;
Yao, Bing;
Jin, Xiaoye

Publication type:

Article

Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis.

Published in:

Case Reports in Medicine, 2025, v. 2025, p. 1, doi. 10.1155/carm/5313611

By:

Mohamadsalih, Ghassan;
Al Bureshad, Khalid;
Mohammed, Idris;
Chirayath, Shiga;
Hamdoun, Elwaseila;
Hussain, Khalid;
Jha, Poulami

Publication type:

Article

Qualitative and Phenotyping Characterization among Okra [Abelmoschus esculentus (L.) Moench] Genotypes.

Published in:

Indian Journal of Agricultural Research, 2025, v. 59, n. 4, p. 607, doi. 10.18805/IJARe.A-5987

By:

Pranay Reddy, J.;
Anbanandan, V.;
Sunil Kumar, B.;
Saravanan, K.

Publication type:

Article

Mendelian Randomization Assessment of the Genetic Effects of Lipid‐Lowering Drugs on Digestive System Cancers.

Published in:

Food Science & Nutrition, 2025, v. 13, n. 5, p. 1, doi. 10.1002/fsn3.70293

By:

Ma, Keru;
Wang, Hao;
Du, Yubo;
Chen, Tianyu;
Yang, Dongxu;
Li, Yue;
Li, Dalin

Publication type:

Article

Role of CDH1 gene variants and E-cadherin localization in gastric mucosal cancerization.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1590680

By:

Wu, Yunbo;
Zhang, Yunzhan;
Dai, Yunkai;
Luo, Qi;
Lan, Shaoyang;
Chen, Xu;
Chen, Weijing;
Li, Ruliu;
Hu, Ling

Publication type:

Article

Whole genome characterization of Torque teno sus virus 1 (TTSuV1) in wild and domestic pigs: insights into genetic classification, host differentiation, and intra-host variation.

Published in:

Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1585558

By:

Li, Xiaolong;
Tavares, Yasmin;
Carneiro, Céline M.;
Phillips, Caroline;
Subramaniam, Kuttichantran;
Lednicky, John;
Boughton, Raoul K.;
Pepin, Kim M.;
Miller, Ryan S.;
VerCauteren, Kurt C.;
Wisely, Samantha M.

Publication type:

Article

Genomic insights into bla <sub>AFM</sub>-positive carbapenem-resistant Pseudomonas aeruginosa in China.

Published in:

Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1546662

By:

Lu, Huimin;
Zhang, Chuanjun;
Zhao, Buhui;
Li, Yan;
Qin, Shangshang

Publication type:

Article

Complete defect in PA-PLA<sub>1</sub>α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1591409

By:

Zhang, Xinyue;
Guo, Kexin;
Liu, Jiawei;
Yang, Xueting;
Zhang, Rui;
Wang, Rongrong;
Ma, Donglai;
Zhang, Xue

Publication type:

Article

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1572487

By:

Lin, Tao;
Chen, Zheyan;
Dong, Biwen;
Pan, Haojie;
Wang, Hai;
Zheng, Xianjue;
Chen, Kaixin;
Lai, Yanan;
Zhang, Chenhui;
Dong, Ye;
Xu, Zitong;
Lin, Menmen;
Xi, Xiujie;
Xia, Shuqi;
Wang, Yimin;
Wang, Wenhan;
Li, Xiaoqing;
Sun, Congcong;
Hu, Yanjun;
Xu, Fang

Publication type:

Article

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.

Published in:

2025

By:

Zhang, Ruxuan;
Hu, Tingting;
Wang, Shuai;
Cheng, Yiping;
Luo, Dandan;
Zheng, Dongmei;
Zhou, Xinli

Publication type:

Case Study

Expression and clinical significance of FANCI gene in pan-cancer: a comprehensive analysis based on multi-omics data.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1542888

By:

Zhao, Yunzheng;
Li, Qingyu;
Li, Jiajun;
Cui, YiFeng;
Lu, Zhaoyang

Publication type:

Article

Multiple Origins or Widespread Gene Flow in Agricultural Fields? Regional Population Genomics of Herbicide Resistance in Bromus tectorum.

Published in:

Molecular Ecology, 2025, v. 34, n. 11, p. 1, doi. 10.1111/mec.17791

By:

Ribeiro, Victor H. V.;
Gallagher, Joseph;
Mallory‐Smith, Carol;
Barroso, Judit;
Brunharo, Caio A. C. G.

Publication type:

Article

Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0323302

By:

Jeon, Hajin;
Lee, Jong Lyul;
Shim, Hyeran;
Joe, Soobok;
Byeon, Iksu;
Kim, Chan Wook;
Lim, Seok-Byung;
Park, In Ja;
Yoon, Yong Sik;
Chu, Hoang Bao Khanh;
Kim, Young-Joon;
Yu, Chang Sik;
Yang, Jin Ok

Publication type:

Article

Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths.

Published in:

Journal of Veterinary Internal Medicine, 2025, v. 39, n. 3, p. 1, doi. 10.1111/jvim.70110

By:

Lulich, Jody P.;
Ulrich, Rachael;
Furrow, Eva

Publication type:

Article

The Beta‐Blocker Pharmacogenetic Puzzle: More Pieces of Evidence for Pharmacodynamic Candidate Variants.

Published in:

CTS: Clinical & Translational Science, 2025, v. 18, n. 5, p. 1, doi. 10.1111/cts.70239

By:

Luzum, Jasmine A.;
Littleton, Shana D. R.;
Lopez‐Medina, Ana I.;
Liu, Bin;
She, Ruicong;
Lanfear, David E.

Publication type:

Article

The Germline and Soma: A Characteristic of Multicellular Organisms or a Feature of all Organisms?

Published in:

BioEssays, 2025, v. 47, n. 6, p. 1, doi. 10.1002/bies.70012

By:

Zadrag‐Tecza, Renata

Publication type:

Article

Can Unicellular Organisms Sequester a Germline? The Yeast‐Germline Hypothesis.

Published in:

BioEssays, 2025, v. 47, n. 6, p. 1, doi. 10.1002/bies.70003

By:

Vadlamudi, Bhavya Sree;
Aanen, Duur K.

Publication type:

Article

The Causal Relationship Between Serum Metabolites and Sjogren's Syndrome: A Mendelian Randomization Study.

Published in:

British Journal of Hospital Medicine (17508460), 2025, v. 86, n. 5, p. 1, doi. 10.12968/hmed.2024.0968

By:

Li, Yuqiao;
Chen, Li;
Huang, Xiaohan;
Wang, Yue

Publication type:

Article

Patatin-like phospholipase domain-containing 3 (PNPLA3) variants rs 738408 and rs 738409 single nucleotide polymorphism as predictor of metabolic associated fatty liver disease and its progression.

Published in:

Pakistan Journal of Medical Sciences, 2025, v. 41, n. 5, p. 1322, doi. 10.12669/pjms.41.5.11532

By:

Altaf, Benash;
Jawed, Shireen;
Wan Ghazali, Wan Syaheedah;
Abdul Aziz, Ahmad Aizat;
Tahir Salam, Rana Muhammad;
Rasheed, Abid;
Mohamed, Mahaneem

Publication type:

Article

Karyomorphological Studies in Genus Anthemis spp. (Anthemideae).

Published in:

Journal of Cell & Molecular Research, 2024, v. 15, n. 2, p. 63, doi. 10.22067/jcmr.2024.85966.1084

By:

Javadi, Hamideh;
Shanjani, Parvin Salehi

Publication type:

Article

Phylogeography and demographic history of the swordtail fish Xiphophorus multilineatus.

Published in:

Environmental Biology of Fishes, 2025, v. 108, n. 6, p. 969, doi. 10.1007/s10641-025-01704-9

By:

Maldonado-Sánchez, Denisse;
Rios-Cardenas, Oscar;
Morris, Molly R.;
Gutiérrez-Rodríguez, Carla

Publication type:

Article

Pleistocene glaciation and Anthropocene fragmentation influence genetic variation in the Illinois state–listed mottled sculpin (Cottus bairdii).

Published in:

Environmental Biology of Fishes, 2025, v. 108, n. 6, p. 905, doi. 10.1007/s10641-025-01686-8

By:

Corush, Joel B.;
Cucalón, Roberto V.;
Metzke, Brian A.;
Tan, Milton;
Davis, Mark A.

Publication type:

Article

Genomic Diversity in Three Populations of West Bengal, India, Using 15 Autosomal Forensically Informative STR Markers.

Published in:

Journal of Forensic Science & Medicine, 2025, v. 11, n. 2, p. 131, doi. 10.4103/jfsm.jfsm_154_23

By:

Saha, Shreya;
Roy, Soma

Publication type:

Article

Genetic Analysis of Yellow Rust Resistance in two Egyptian Wheats: Unveiling the Role of Yr8 Using SSR Markers.

Published in:

Annals of Agricultural Science Moshtohor, 2024, v. 62, n. 4, p. 95, doi. 10.21608/assjm.2025.344535.1325

By:

Soliman, Sara M.;
El-Shawaf, I. I.;
Moustafa, Mahmoud M. A.;
Gad, Khaled I.;
Sherif, Hassan S. A.

Publication type:

Article

CYP2D6*10 基因多态性与他莫昔芬治疗乳腺癌相关不良反应的关联性研究.

Published in:

Chinese Journal of Oncology, 2025, v. 47, n. 5, p. 404, doi. 10.3760/cma.j.cn112152-20240613-00251

By:

朱倩男;
王若曦

Publication type:

Article

Molecular and spatial transcriptomic classification of midbrain dopamine neurons and their alterations in a LRRK2G2019S model of Parkinson’s disease.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.101035

By:

Gaertner, Zachary;
Oram, Cameron;
Schneeweis, Amanda;
Schonfeld, Elan;
Bolduc, Cyril;
Chen, Chuyu;
Dombeck, Daniel;
Parisiadou, Loukia;
Poulin, Jean-Francois;
Awatramani, Rajeshwar

Publication type:

Article

Genetic and environmental drivers of intraspecific variation in foliar metabolites in a tropical tree community.

Published in:

New Phytologist, 2025, v. 246, n. 6, p. 2551, doi. 10.1111/nph.70146

By:

He, Yunyun;
Junker, Robert R.;
Xiao, Jianhua;
Lasky, Jesse R.;
Cao, Min;
Asefa, Mengesha;
Swenson, Nathan G.;
Xu, Guorui;
Yang, Jie;
Sedio, Brain E.

Publication type:

Article

Genetic variation in a tandemly duplicated TPS gene cluster contributes to the diversity of aroma in lychee fruit.

Published in:

New Phytologist, 2025, v. 246, n. 6, p. 2652, doi. 10.1111/nph.70090

By:

Hu, Huimin;
Liu, Hongsen;
Zeng, Zaohai;
Xiao, Yaxuan;
Mai, Yingxiao;
Zhang, Yanqing;
Meyers, Blake C.;
Hao, Yanwei;
Xia, Rui

Publication type:

Article

Comparative analysis of the organelle genomes of seven Rosa species (Rosaceae): insights into structural variation and phylogenetic position.

Published in:

Frontiers in Plant Science, 2025, p. 1, doi. 10.3389/fpls.2025.1584289

By:

Zhang, Rongxiang;
Liu, Shuwen;
Liu, Ying;
Wei, Pei;
Xiang, Niyan;
Zhao, Yuemei;
Gao, Xiaoman;
Yin, Yebing;
Qin, Lijun;
Yuan, Tao

Publication type:

Article

EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1583405

By:

Xiang, Qiu-yuan;
Zuo, Min;
Zhou, Ji-Hao;
Feng, Chun

Publication type:

Article

Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1582718

By:

Wang, Jinxin;
Chen, Weicheng;
Huang, Xianghui;
Gao, Han;
Feng, Zhiyu;
Tan, Chaozhong;
Zhuang, Quannan;
Gao, Yuan;
Min, Shaojie;
Lu, Yuquan;
Wu, Feizhen;
Qian, Maoxiang;
Yan, Weili;
Sheng, Wei;
Huang, Guoying

Publication type:

Article

Keynote Lectures: Searching for molecular biomarkers of neuroplasticity in congenital deafness treatment in serum and in perilymph.

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 103

By:

Matusiak, M.;
Ozieblo, D.;
Oldak, M.;
Rejmak, E.;
Kaczmarek, L.;
Skarzynski, H.

Publication type:

Article

Comparative genomic analysis of cassava rhizospheric Bacillus subtilis using integrated in vitro and in silico approaches with enterobacterial repetitive intergenic consensus (ERIC) sequences.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10593-1

By:

Sraphet, Supajit;
Tharasawatpipat, Chaisri;
Choo-in, Sivapan;
Kayee, Pantip;
Namwong, Sirilak;
Budsabun, Tanakwan;
Javadi, Bagher

Publication type:

Article

Association between SIRT-1 and SERPINA4 gene polymorphisms and the risk of idiopathic nephrotic syndrome among Egyptian children.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10568-2

By:

AboShabaan, Hind S.;
El-Sayed, Hanan Mostafa;
Abbas, Mona A.

Publication type:

Article

Phenotypic diversity of cactus pear (O. ficus-indica (L.) Mill.) populations in Tigray, northern Ethiopia, based on qualitative traits.

Published in:

Discover Agriculture, 2025, v. 3, n. 1, p. 1, doi. 10.1007/s44279-025-00227-2

By:

Teklu, Gebremedhin Welu;
Ayimut, Kiros-Meles;
Abera, Fetien Abay;
G.Egziabher, Yemane;
Fitiwi, Ibrahim

Publication type:

Article

Molecular Identification and Genetic Characterization of Trypanosoma Evansi from Cattle in Makkah, Saudi Arabia.

Published in:

Polish Journal of Environmental Studies, 2025, v. 34, n. 4, p. 3511, doi. 10.15244/pjoes/189384

By:

Albohiri, Haleema H.;
Alsulami, Muslimah N.

Publication type:

Article

Isolation has led to reduced genetic diversity among populations of an endangered mountain specialist.

Published in:

Conservation Genetics, 2025, v. 26, n. 3, p. 619, doi. 10.1007/s10592-025-01692-4

By:

Amor, Michael D.;
Atkins, Zak;
Clemann, Nick

Publication type:

Article

Dynamics of genetic diversity and population structure of Eucalyptus urophylla from Indonesian Islands using SNP data.

Published in:

Conservation Genetics, 2025, v. 26, n. 3, p. 561, doi. 10.1007/s10592-025-01690-6

By:

de Silva, Dandara Yasmim Bonfim Oliveira;
Rosa, João Ricardo Bachega Feijó;
de Souza, Izabel Christina Gava;
Nunes, Maria Paula Barion Alves;
Benatti, Thiago Romanos;
Fernandes, Aline Cristina Miranda;
de Matos, Jose Wilacildo;
Oda, Shinitiro;
Beerli, Peter;
Tambarussi, Evandro Vagner

Publication type:

Article

Clonal reproduction and hydrochory drive colony and population structure in a narrowly endemic and endangered emergent aquatic plant (Sagittaria fasciculata; Alismataceae).

Published in:

Conservation Genetics, 2025, v. 26, n. 3, p. 573, doi. 10.1007/s10592-025-01689-z

By:

Fox, Skyler J.;
Morris, Ashley B.

Publication type:

Article

Multimarker genetic analyses of Gonimbrasia belina, the most harvested wild edible insect of mopane woodlands in Southern Africa, supports concerns over the sustainability of the species.

Published in:

Conservation Genetics, 2025, v. 26, n. 3, p. 545, doi. 10.1007/s10592-025-01687-1

By:

Nethavhani, Zwannda;
Veldtman, Ruan;
Nyamukondiwa, Casper;
Versfeld, William;
van Asch, Barbara

Publication type:

Article

Genetic diversity and phylogeographic structure of the endangered Korean Bitterling (Tanakia signifer) and its symbiotic mussel (Nodularia breviconcha), based on mitochondrial DNA variation: implications for conservation.

Published in:

Conservation Genetics, 2025, v. 26, n. 3, p. 513, doi. 10.1007/s10592-025-01685-3

By:

Choi, Hee-kyu;
Lee, Hyuk Je

Publication type:

Article

Extinction and loss of genetic diversity in a pantropical seabird population in the southwestern Atlantic Ocean.

Published in:

Conservation Genetics, 2025, v. 26, n. 3, p. 491, doi. 10.1007/s10592-025-01683-5

By:

Muraro, Vitória;
Fregonezi, Aline M. C. R.;
Bugoni, Leandro

Publication type:

Article