Biomedical publications with connected research

Mutations of the circadian clock genes Cry, Per, or Bmal1 have different effects on the transcribed and nontranscribed strands of cycling genes.

Proceedings of the National Academy of Sciences of the United States of America | 2024-02-20 | PMID 38359290

Yang Yanyan, Wu Gang, Sancar Aziz and 1 more

The impact of age and number of mutations on the size of clonal hematopoiesis.

Proceedings of the National Academy of Sciences of the United States of America | 2024-02-20 | PMID 38359296

Wang Kai, Zhang Wen, Yi Li and 11 more

Role of the IL8 rs4073 polymorphism in central nervous system toxicity in patients receiving multidrug-resistant tuberculosis treatment.

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia | 2024-01-01 | PMID 38359298

Badamasi Ibrahim Mohammed, Muhammad Muktar, Umar Aishat Ahmad and 7 more

Risk association of the nitric oxide synthase VNTR intron 4 a/b variant with diabetic nephropathy - a pilot study.

Nucleosides, nucleotides & nucleic acids | 2024-01-01 | PMID 38359337

Moorthy Swathy, Koshy Teena

CEBPA double mutations associated with ABO antigen weakness in hematologic diseases.

Blood advances | 2024-03-26 | PMID 38359363

Choi Seung Jun, Kim Hyun Kyung, Suh Eun Jung and 4 more

Tumor mutational load is prognostic for progression to therapy among high-count monoclonal B-cell lymphocytosis.

Blood advances | 2024-05-14 | PMID 38359367

Kleinstern Geffen, Boddicker Nicholas J, O'Brien Daniel R and 25 more

Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.

Neurology | 2024-03-12 | PMID 38359368

Patel Namita, Berggren Kiera N, Hung Man and 7 more

IC3D Classification of Corneal Dystrophies-Edition 3.

Cornea | 2024-04-01 | PMID 38359414

Weiss Jayne S, Rapuano Christopher J, Seitz Berthold and 13 more

Establishment of induced pluripotent stem cell lines derived from Parkinson's disease Mexican patients: A sporadic (UNAMi002-A) and a familial (UNAMi003-A) case carrying a mutation in PINK1.

Stem cell research | 2024-04-01 | PMID 38359473

Flores-Ponce Xóchitl, López-Ornelas Adolfo, Escobedo-Avila Itzel and 6 more

postGWAS: A web server for deciphering the causality post the genome-wide association studies.

Computers in biology and medicine | 2024-03-01 | PMID 38359659

Wang Tao, Yan Zhihao, Zhang Yiming and 8 more

Quantitative and qualitative mutational impact of ionizing radiation on normal cells.

Cell genomics | 2024-02-14 | PMID 38359788

Youk Jeonghwan, Kwon Hyun Woo, Lim Joonoh and 36 more

Host genetic variants, Epstein-Barr virus subtypes, and the risk of nasopharyngeal carcinoma: Assessment of interaction and mediation.

Cell genomics | 2024-02-14 | PMID 38359790

Xu Miao, Feng Ruimei, Liu Zhonghua and 23 more

Monitoring APOBEC3A protein levels in human cancer cells.

Methods in cell biology | 2024-01-01 | PMID 38359985

Dananberg Alexandra, Maciejowski John

Variable clinical expression of a novel FLNC truncating variant in a large family.

International journal of cardiology | 2024-04-15 | PMID 38360096

Tomer Orr, Horowitz-Cederboim Smadar, Rivkin Dini and 5 more

Genes: SCD, FLNC

Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes.

Gene | 2024-05-20 | PMID 38360126

Latini Andrea, Borgiani Paola, De Benedittis Giada and 13 more

Coronary artery bypass grafting (CABG) induces pro-inflammatory and immunomodulatory phenotype of platelets in the absence of a pro-aggregatory state.

Microvascular research | 2024-05-01 | PMID 38360131

Hosseini Ehteramolsadat, Ahmadi Javad, Kargar Faranak and 1 more

Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.

The Journal of molecular diagnostics : JMD | 2024-05-01 | PMID 38360210

Lee Brian, Nasanovsky Lily, Shen Lishuang and 12 more

Enhancing Trypanosomatid Identification and Genotyping with Oxford Nanopore Sequencing: Development and Validation of an 18S rRNA Amplicon-Based Method.

The Journal of molecular diagnostics : JMD | 2024-05-01 | PMID 38360211

Cruz-Saavedra Lissa, Ospina Carlos, Patiño Luz H and 8 more

Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.

The Journal of molecular diagnostics : JMD | 2024-05-01 | PMID 38360212

Sharma Pankaj, Bhatia Prateek, Singh Minu and 8 more

Vascular tumors of intermediate malignancy: An update.

Human pathology | 2024-05-01 | PMID 38360216

Folpe Andrew L

Cataract-related variant R114C increases βA3-crystallin susceptibility to environmental stresses by disrupting the protein senior structure.

International journal of biological macromolecules | 2024-03-01 | PMID 38360245

Chen Silong, Guo Jiarui, Xu Wanyue and 7 more

Psoriasis and steatotic liver disease: Are PNPLA3 and TM6SF2 polymorphisms suitable for the hepato-dermal axis hypothesis?

Annals of hepatology | 2024-01-01 | PMID 38360269

Agoglia Luciana, Cardoso Ana Carolina, Barbosa Lívia and 5 more

Genes: PNPLA3, TM6SF2

Responses to commentaries on "The gene: An appraisal".

Progress in biophysics and molecular biology | 2024-05-01 | PMID 38360273

Baverstock Keith

Immunotherapy for colorectal cancer: insight from inherited genetics.

Trends in cancer | 2024-05-01 | PMID 38360438

Tjader Nijole Pollock, Toland Amanda Ewart

Heterogeneity of CFTR modulator-induced sweat chloride concentrations in people with cystic fibrosis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2024-07-01 | PMID 38360461

Zemanick E T, Emerman I, McCreary M and 7 more

Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders.

EBioMedicine | 2024-03-01 | PMID 38360481

Adamson Walt E, Noyes Harry, Johnson Paul and 8 more

Efficacy of Epidermal Growth Factor Receptor-Tyrosine Kinase Inhibitors in Metastatic Non-Small Cell Lung Cancer Patients with Poor Performance Status and Epidermal Growth Factor Receptor Mutations: Findings from the Japanese Lung Cancer Registry Database.

Clinical lung cancer | 2024-06-01 | PMID 38360497

Okuma Yusuke, Shintani Yasushi, Sekine Ikuo and 10 more

Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.

Trends in neurosciences | 2024-03-01 | PMID 38360512

Van de Vondel Liedewei, De Winter Jonathan, Timmerman Vincent and 1 more

T2-FLAIR mismatch sign and machine learning-based multiparametric MRI radiomics in predicting IDH mutant 1p/19q non-co-deleted diffuse lower-grade gliomas.

Clinical radiology | 2024-05-01 | PMID 38360515

Tang W-T, Su C-Q, Lin J and 3 more

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.

Hemoglobin | 2024-03-01 | PMID 38360540

Waye John S, Hanna Meredith, Nakamura Lisa and 3 more

Aire in Autoimmunity.

Annual review of immunology | 2024-06-01 | PMID 38360547

Miller Corey N, Waterfield Michael R, Gardner James M and 1 more

The association of E2F1 and E2F2 single nucleotide polymorphisms with laryngeal squamous cell carcinoma pathomorphological features.

BMC cancer | 2024-02-15 | PMID 38360622

Jakstas Tomas, Bartnykaite Agne, Padervinskis Evaldas and 4 more

Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia.

Orphanet journal of rare diseases | 2024-02-14 | PMID 38360726

Michki Sylvia N, Singer Benjamin D, Perez Javier V and 8 more

Genes: ATM, CD4, FLT4, IL6ST, SERPINE1

Genetic variants associated with osteosarcoma risk: a systematic review and meta-analysis.

Scientific reports | 2024-02-15 | PMID 38360742

Hassanain Omneya, Alaa Mahmoud, Khalifa Mohamed K and 3 more

Assessing emergence risk of double-resistant and triple-resistant genotypes of Plasmodium falciparum.

Nature communications | 2024-02-15 | PMID 38360803

Li Eric Zhewen, Nguyen Tran Dang, Tran Thu Nguyen-Anh and 2 more

A landscape of gene expression regulation for synovium in arthritis.

Nature communications | 2024-02-15 | PMID 38360850

Jiang Feng, Hu Shou-Ye, Tian Wen and 14 more

Mapping AML heterogeneity - multi-cohort transcriptomic analysis identifies novel clusters and divergent ex-vivo drug responses.

Leukemia | 2024-04-01 | PMID 38360865

Severens Jeppe F, Karakaslar E Onur, van der Reijden Bert A and 8 more

PheWAS-based clustering of Mendelian Randomisation instruments reveals distinct mechanism-specific causal effects between obesity and educational attainment.

Nature communications | 2024-02-15 | PMID 38360877

Darrous Liza, Hemani Gibran, Davey Smith George and 1 more

Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice.

Cancer gene therapy | 2024-06-01 | PMID 38360887

Mengoni Miriam, Braun Andreas Dominik, Seedarala Sahithi and 6 more

The phylogeographic journey of a plant species from lowland to highlands during the Pleistocene.

Scientific reports | 2024-02-15 | PMID 38360894

Soares Luana Sousa, Freitas Loreta B

Evolutionary origin and distribution of amino acid mutations associated with resistance to sodium channel modulators in onion thrips, Thrips tabaci.

Scientific reports | 2024-02-15 | PMID 38360913

Jouraku Akiya, Tomizawa Yui, Watanabe Kazuki and 5 more

Inflammation-related molecular signatures involved in the anticancer activities of brigatinib as well as the prognosis of EML4-ALK lung adenocarcinoma patient.

Acta pharmacologica Sinica | 2024-06-01 | PMID 38360931

Ge Fu-Jing, Dai Xiao-Yang, Qiu Yao and 10 more

Composite CYP3A (CYP3A4 and CYP3A5) phenotypes and influence on tacrolimus dose adjusted concentrations in adult heart transplant recipients.

The pharmacogenomics journal | 2024-02-15 | PMID 38360955

Liu Michelle, Hernandez Savine, Aquilante Christina L and 4 more

Genes: CYP3A4, CYP3A5

EfficientNet-Based System for Detecting EGFR-Mutant Status and Predicting Prognosis of Tyrosine Kinase Inhibitors in Patients with NSCLC.

Journal of imaging informatics in medicine | 2024-06-01 | PMID 38361006

Xu Nan, Wang Jiajun, Dai Gang and 4 more

Accurate and sensitive mutational signature analysis with MuSiCal.

Nature genetics | 2024-03-01 | PMID 38361034

Jin Hu, Gulhan Doga C, Geiger Benedikt and 4 more

Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.

Clinical genetics | 2024-06-01 | PMID 38361102

Hoem Gry, Pastore Arianna, Bratland Eirik and 3 more

Genes: FZD4

Triple Primary Cancers: An Analysis of Genetic and Environmental Factors.

Cancer prevention research (Philadelphia, Pa.) | 2024-05-02 | PMID 38361103

Borja Nicholas A, Silva-Smith Rachel, Calfa Carmen and 2 more

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Scientific reports | 2024-02-15 | PMID 38361118

Choi Won-Jun, Kim Soo-Hyun, Lee Sung Rok and 4 more

Mitochondrial haplotype and mito-nuclear matching drive somatic mutation and selection throughout ageing.

Nature ecology & evolution | 2024-05-01 | PMID 38361161

Serrano Isabel M, Hirose Misa, Valentine Charles C and 7 more

Marginal Zone B Cells Are Necessary for the Formation of Anti-donor IgG After Allogeneic Sensitization.

Transplantation | 2024-06-01 | PMID 38361235

Kallarakal Melissa A, Cohen Gregory S, Ibukun Francis I and 1 more

Multi-locus genome-wide association study reveal genomic regions underlying root system architecture traits in Ethiopian sorghum germplasm.

The plant genome | 2024-06-01 | PMID 38361379

Elias Masarat, Chere Diriba, Lule Dagnachew and 6 more

The susceptibility of single nucleotide polymorphisms located within co-stimulatory pathways to systemic lupus erythematosus.

Frontiers in immunology | 2023-01-01 | PMID 38361527

Chen Ding-Ping, Lin Wei-Tzu, Hsu Fang-Ping and 1 more

The anti-neoplastic effects of metformin modulate the acquired phenotype of fibroblast cells in the breast cancer-normal fibroblast co-culture system.

Oncology research | 2024-01-01 | PMID 38361760

Mostafavi Samaneh, Hassan Zuhair Mohammad

Infrapatellar fat pad adipose tissue-derived macrophages display a predominant CD11c+CD206+ phenotype and express genotypes attributable to key features of OA pathogenesis.

Frontiers in immunology | 2024-01-01 | PMID 38361943

Hengtrakool Patchanika, Leearamwat Nitigorn, Sengprasert Panjana and 7 more

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.

Frontiers in immunology | 2024-01-01 | PMID 38361950

Al-Saud Bandar, Alajlan Huda, Alruwaili Hibah and 5 more

New analysis of atypical spermatocytic tumours reveals extensive heterogeneity and plasticity of germ cell tumours†.

The Journal of pathology | 2024-05-01 | PMID 38362619

Rajpert-De Meyts Ewa, Goriely Anne, Almstrup Kristian

Estimation of antimicrobial resistance of Mycoplasma genitalium, Belgium, 2022.

Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin | 2024-02-01 | PMID 38362626

De Baetselier Irith, Smet Hilde, Kehoe Kaat and 27 more

Next-generation sequencing reveals remarkable genetic stability in primary and corresponding recurrent intestinal-type sinonasal adenocarcinoma.

Head & neck | 2024-08-01 | PMID 38362701

Riobello Cristina, Sánchez-Fernández Paula, Córdoba María Camila Cubides and 10 more

Is there a prognostic difference among stage I lung adenocarcinoma patients with different BRAF-mutation status?

Thoracic cancer | 2024-03-01 | PMID 38362771

Ma Shang-Shang, Wang Rang-Rang, Peng Qiao and 7 more

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.

Circulation | 2024-04-16 | PMID 38362779

Li Bowen, Liu Fangfang, Chen Xihui and 10 more

The genetic epidemiology of schizotypal personality disorder.

Psychological medicine | 2024-07-01 | PMID 38362845

Kendler Kenneth S, Ohlsson Henrik, Sundquist Jan and 1 more

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.

Genetics in medicine : official journal of the American College of Medical Genetics | 2024-05-01 | PMID 38362852

Hinić Snežana, Cybulski Cezary, Van der Post Rachel S and 27 more

Major Depressive Disorder Impacts Peripheral Artery Disease Risk Through Intermediary Risk Factors.

Journal of the American Heart Association | 2024-02-20 | PMID 38362853

Shakt Gabrielle, Tsao Noah L, Levin Michael G and 7 more

Pore Restructuring of Peptide Frameworks by Mutations at Distal Packing Residues.

Biomacromolecules | 2024-03-11 | PMID 38362872

Heinz-Kunert Sherrie L, Pandya Ashma, Dang Viet Thuc and 2 more

Resistance-associated mutations to the anti-SARS-CoV-2 agent nirmatrelvir: Selection not induction.

Journal of medical virology | 2024-02-01 | PMID 38363015

Colson Philippe, Delerce Jérémy, Pontarotti Pierre and 4 more

Development of a rapid detection method for the macrolide resistance gene in Mycobacterium avium using the amplification refractory mutation system-loop-mediated isothermal amplification method.

Microbiology spectrum | 2024-04-02 | PMID 38363108

Inagaki Takayuki, Asahi Shoki, Ogawa Kenji and 7 more

Role of macrophages in regression of myocardial fibrosis following alleviation of left ventricular pressure overload.

American journal of physiology. Heart and circulatory physiology | 2024-05-01 | PMID 38363214

Neff Lily S, Biggs Rachel M, Zhang Yuhua and 7 more

Periodontal Ligament Stem Cell-Derived Exosomes Regulate Muc5ac Expression in Rat Conjunctival Goblet Cells via Regulating Macrophages Toward an Anti-Inflammatory Phenotype.

Ocular immunology and inflammation | 2024-11-01 | PMID 38363299

Ren Yiqian, Wang Yani, An Na and 5 more

Order-of-Mutation Effects on Cancer Progression: Models for Myeloproliferative Neoplasm.

Bulletin of mathematical biology | 2024-02-16 | PMID 38363386

Wang Yue, Shtylla Blerta, Chou Tom

Delineation of genes for a major QTL governing heat stress tolerance in chickpea.

Plant molecular biology | 2024-02-16 | PMID 38363401

Mohanty Jitendra K, Thakro Virevol, Yadav Antima and 5 more

Occurrence of Existing BCR-ABL Baseline Mutations and Associated Haplotype (NmR) Among CML Patients with Diverse IM Response: A Hospital-based Study from North-East India.

Biochemical genetics | 2024-12-01 | PMID 38363412

Hazarika Gautam, Kalita Manash Jyoti, Das Partha Pratim and 8 more

PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport.

Acta neuropathologica | 2024-02-16 | PMID 38363426

Tziortzouda Paraskevi, Steyaert Jolien, Scheveneels Wendy and 9 more

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

Journal of clinical immunology | 2024-02-16 | PMID 38363432

Rosain Jérémie, Kiykim Ayca, Michev Alexandre and 17 more

Influences of Genetic and Environmental Factors on Chronic Migraine: A Narrative Review.

Current pain and headache reports | 2024-04-01 | PMID 38363449

Yeh Po-Kuan, An Yu-Chin, Hung Kuo-Sheng and 1 more

Association of statin use with osteoporosis risk: a drug-targeted Mendelian randomization study.

Inflammopharmacology | 2024-04-01 | PMID 38363475

Ren Zhaozhou, Zhou Long

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.

Journal of clinical immunology | 2024-02-16 | PMID 38363477

Della Mina Erika, Jackson Katherine J L, Crawford Alexander J I and 14 more

The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.

Journal of neuro-oncology | 2024-03-01 | PMID 38363490

Shirai Yukina, Ueno Toshihide, Kojima Shinya and 12 more

Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.

Metabolic brain disease | 2024-04-01 | PMID 38363494

Maalej Marwa, Sfaihi Lamia, Fersi Olfa-Alila and 8 more

Genes: ECHS1

The Effects of PICALM rs3851179 and Age on Brain Atrophy and Cognition Along the Alzheimer's Disease Continuum.

Molecular neurobiology | 2024-09-01 | PMID 38363532

Wu Zhiwei, Chen Jinhong, Liu Yuanqing and 3 more

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2024-02-29 | PMID 38363575

Zhao Rulian, Liu Min, Dai Erkuan and 6 more

Genes: LRP5, NDP, TSPAN12

Impact of the trans-ancestry polygenic risk score on type 2 diabetes risk, onset age and progression among population in Taiwan.

American journal of physiology. Endocrinology and metabolism | 2024-05-01 | PMID 38363735

Wang Shi-Heng, Huang Yu-Chuen, Cheng Chun-Wen and 2 more

Molecular network analysis of 308 newly diagnosed HIV infection and 210 ART failure patients from rural counties in Sichuan.

PloS one | 2024-01-01 | PMID 38363761

Zhong Xia, Yuan Dan, Fan Shuang Feng and 5 more

Gametic selection favours polyandry and selfing.

PLoS genetics | 2024-02-01 | PMID 38363804

Scott Michael Francis, Mackintosh Carl, Immler Simone

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

American journal of respiratory cell and molecular biology | 2024-06-01 | PMID 38363828

Villeneuve Judith, Tremblay Élody, Gaudreault Nathalie and 6 more

Genes: MUC5B

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature.

Medicine | 2024-02-16 | PMID 38363891

Yang Rong, Ai Yuan, Bai Ting and 2 more

Insight into deep learning for glioma IDH medical image analysis: A systematic review.

Medicine | 2024-02-16 | PMID 38363910

Lv Qingqing, Liu Yihao, Sun Yingnan and 1 more

Ischemic stroke as an initial performance of polycythemia vera in young adults: A case report and literature review.

Medicine | 2024-02-16 | PMID 38363912

Hui Shuo, Zhao Jingru, Huo Tiantian and 4 more

Familial Mediterranean Fever-Associated Retinal Vasculitis: A Rare Manifestation Successfully Managed with IL-1 Pathway Inhibitors.

Ocular immunology and inflammation | 2024-11-01 | PMID 38364019

Anglada-Masferrer Natalia, Bertolani Yann, Gutuleac Liliana and 3 more

Postinduction molecular MRD identifies patients with NPM1 AML who benefit from allogeneic transplant in first remission.

Blood | 2024-05-09 | PMID 38364112

Othman Jad, Potter Nicola, Ivey Adam and 17 more

Genomic data revealed inbreeding despite a geographically connected stable effective population size since the Holocene in the protected Formosan Long-Arm Scarab beetle, Cheirotonus formosanus.

The Journal of heredity | 2024-05-09 | PMID 38364316

Huang Jen-Pan, Wu Shu-Ping, Chen Wei-Yun and 2 more

Adolescent social isolation increases binge-like alcohol drinking in male but not female high-alcohol-preferring mice.

Alcohol and alcoholism (Oxford, Oxfordshire) | 2024-01-17 | PMID 38364318

Cullins Eva C, Chester Julia A

Transmission of drug-resistant Mycobacterium tuberculosis isolates between Finnish- and foreign-born cases, 2014-2021: A molecular epidemiological study.

Tuberculosis (Edinburgh, Scotland) | 2024-05-01 | PMID 38364331

Zhu Jiahui, Haanpera Marjo, Mentula Silja and 5 more

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.

Seizure | 2024-04-01 | PMID 38364333

Feng Wei-Xing, Wang Xiao-Fei, Wu Yun and 6 more

Molecular detection and characterization of Blastocystis in herbivore livestock species in Portugal.

Veterinary parasitology | 2024-04-01 | PMID 38364349

Figueiredo Ana M, Santín Mónica, Köster Pamela C and 12 more

Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi055-A from a patient with NEDSDV carrying a heterozygote mutation in the CTNNB1 gene.

Stem cell research | 2024-04-01 | PMID 38364504

Yang Yanan, Liu Chen, Liu Ning and 3 more

Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.

Stem cell research | 2024-04-01 | PMID 38364506

Hua Michelle, Williams Laura, Burns Kaylan and 5 more

GLP1R (glucagon-like-peptide-1 incretin receptor), diabetes and obesity phenotypes: An in silico approach revealed new pathogenic variants.

Diabetes & metabolic syndrome | 2024-02-01 | PMID 38364583

Knihs Vinicius Matheus, Filippin-Monteiro Fabíola Branco

Genome wide association study of Arabidopsis seed mucilage layers at a regional scale.

Plant physiology and biochemistry : PPB | 2024-02-01 | PMID 38364630

Viudes Sébastien, Zamar Rémy, Burlat Vincent and 2 more

Immunohistochemical and molecular pattern of p53 in epithelial ovarian cancers negative for germline BRCA1/2 variants.

Pathology, research and practice | 2024-03-01 | PMID 38364651

Ronchi Susanna, Facchi Sofia, Di Lauro Eleonora and 7 more

Short communication: Accuracy of whole-genome sequence imputation in Angus cattle using within-breed and multi breed reference populations.

Animal : an international journal of animal bioscience | 2024-03-01 | PMID 38364656

Kamprasert N, Aliloo H, van der Werf J H J and 1 more