Works matching DE "HUMAN phenotype"

Results: 1324

Recent advances in the conceptualization and evidence supporting the HiTOP approach.

Published in:

World Psychiatry, 2025, v. 24, n. 2, p. 267, doi. 10.1002/wps.21318

By:

Krueger, Robert F.

Publication type:

Article

Current advancements in the mechanisms and animal models of acute exacerbation of pulmonary fibrosis: a systematic review.

Published in:

Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1501085

By:

Chen, Kai;
Zhang, Hailong;
Yao, Zhaoxu;
Tao, Siyu;
Ma, Qian

Publication type:

Article

Possible New Candidates Involved to Thalidomide-Related Limbs and Cardiac Defects: A Systems Biology Approach.

Published in:

Biochemical Genetics, 2025, v. 63, n. 3, p. 2140, doi. 10.1007/s10528-024-10790-w

By:

Rengel, Bruna Duarte;
Schuler-Faccini, Lavínia;
Fraga, Lucas Rosa;
Vianna, Fernanda Sales Luiz;
Kowalski, Thayne Woycinck

Publication type:

Article

PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation.

Published in:

Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01496-8

By:

Wen, Baole;
Shi, Sheng;
Long, Yi;
Dang, Yanan;
Tian, Weidong

Publication type:

Article

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

Functional immune profiling of hyper- and hypo-inflammatory subphenotypes of critical illness: a secondary analysis.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1520848

By:

Halstead, E. Scott;
McKeone, Daniel J.;
Samuelsen, Abigail M.;
Zhou, Shouhao;
Bonavia, Anthony S.

Publication type:

Article

GPR56/ADGRG1 induces biased Rho-ROCK-MLC and JAK-STAT3 signaling to promote amoeboid-like morphology and IL-6 upregulation in melanoma cells.

Published in:

Cell Communication & Signaling, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12964-025-02267-z

By:

Huang, Kuan-Yeh;
Ng, Kwai-Fong;
I, Kuan-Yu;
Chang, Yu-Chi;
Chen, Hsin-Yi;
Chiu, Ya-Fang;
Hung, Chuan-Mao;
Yu, Wan-Chen;
Chen, Tse-Ching;
Stacey, Martin;
Lin, Hsi-Hsien

Publication type:

Article

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.

Published in:

2015

By:

Jaillard, S.;
Bashamboo, A.;
Pasquier, L.;
Belaud-Rotureau, M.;
McElreavey, K.;
Odent, S.;
Ravel, Célia

Publication type:

Report

Azoospermia and ring chromosome 9-a case report.

Published in:

2015

By:

Laursen, Rita;
Tüttelmann, Frank;
Humaidan, Peter;
Elbæk, Helle;
Alsbjerg, Birgit;
Röpke, Albrecht

Publication type:

Report

Coherent modelling switch between pointwise and distributed representations of cell aggregates.

Published in:

Journal of Mathematical Biology, 2017, v. 74, n. 4, p. 783, doi. 10.1007/s00285-016-1042-0

By:

Colombi, A.;
Scianna, M.;
Preziosi, L.

Publication type:

Article

Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients.

Published in:

Medical Principles & Practice, 2013, v. 23, n. 1, p. 74, doi. 10.1159/000348304

By:

Al-Sebeih, Khalid;
Al-Kandari, Marium;
Al-Awadi, Sadika A.;
Hegazy, Fatma F.;
Al-Khamees, Ghada A.;
Naguib, Kamal K.;
Al-Dabbous, Reem M.

Publication type:

Article

Phosphoinositide lipids in primary cilia biology.

Published in:

Biochemical Journal, 2020, v. 477, n. 18, p. 3541, doi. 10.1042/BCJ20200277

By:

Conduit, Sarah E.;
Vanhaesebroeck, Bart

Publication type:

Article

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Published in:

Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147

By:

Pontikos, Nikolas;
Jing Yu;
Moghul, Ismail;
Withington, Lucy;
Blanco-Kelly, Fiona;
Vulliamy, Tom;
Wong, Tsz Lun Ernest;
Murphy, Cian;
Cipriani, Valentina;
Fiorentino, Alessia;
Arno, Gavin;
Greene, Daniel;
Jacobsen, Julius O. B.;
Clark, Tristan;
Gregory, David S.;
Nemeth, Andrea M.;
Halford, Stephanie;
Inglehearn, Chris F.;
Downes, Susan;
Black, Graeme C.

Publication type:

Article

Transfer learning across ontologies for phenome-genome association prediction.

Published in:

Bioinformatics, 2017, v. 33, n. 4, p. 529, doi. 10.1093/bioinformatics/btw649

By:

Petegrosso, Raphael;
Sunho Park;
Tae Hyun Hwang;
Rui Kuang

Publication type:

Article

GRASP: analysis of genotype–phenotype results from 1390 genome-wide association studies and corresponding open access database.

Published in:

Bioinformatics, 2014, v. 30, n. 12, p. i185, doi. 10.1093/bioinformatics/btu273

By:

Leslie, Richard;
O’Donnell, Christopher J.;
Johnson, Andrew D.

Publication type:

Article

Electrophysiological Phenotype Characterization of Human iPSC-Derived Neuronal Cell Lines by Means of High-Density Microelectrode Arrays.

Published in:

Advanced Biology, 2021, v. 5, n. 3, p. 1, doi. 10.1002/adbi.202000223

By:

Ronchi, Silvia;
Buccino, Alessio Paolo;
Prack, Gustavo;
Kumar, Sreedhar Saseendran;
Schröter, Manuel;
Fiscella, Michele;
Hierlemann, Andreas

Publication type:

Article

白发形成机制及研究前景.

Published in:

Chinese Journal of Aesthetic & Plastic Surgery, 2025, v. 36, n. 1, p. 64, doi. 10.3969/j.issn.1673-7040.2025.01.017

By:

刘宇航;
肖志波

Publication type:

Article

Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03351-7

By:

Yang, Wenjun;
Li, Longman;
Feng, Xiuming;
Cheng, Hong;
Ge, Xiaoting;
Bao, Yu;
Huang, Lulu;
Wang, Fei;
Liu, Chaoqun;
Chen, Xing;
Mo, Zengnan;
Yang, Xiaobo

Publication type:

Article

Genomes by design.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 9, p. 501, doi. 10.1038/nrg3956

By:

Haimovich, Adrian D.;
Muir, Paul;
Isaacs, Farren J.

Publication type:

Article

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 2, p. 1, doi. 10.1210/jendso/bvae221

By:

Cohen, Amitay;
Rossetti, Raffaella;
Florsheim, Natan;
Samson, Abraham O;
Renbaum, Paul;
Carbone, Erika;
Persani, Luca;
Levy-Lahad, Ephrat;
Abu-Libdeh, Abdulsalam;
Zangen, David

Publication type:

Article

Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity.

Published in:

JNCI Cancer Spectrum, 2018, v. 2, n. 4, p. N.PAG, doi. 10.1093/jncics/pky052

By:

Alsaggaf, Rotana;
George, Diane Marie M St.;
Zhan, Min;
Pfeiffer, Ruth M;
Wang, Youjin;
Wagner, Kathryn R;
Greene, Mark H;
Amr, Sania;
Gadalla, Shahinaz M

Publication type:

Article

NAT1 genotypic and phenotypic contribution to urinary bladder cancer risk: a systematic review and meta-analysis.

Published in:

Drug Metabolism Reviews, 2018, v. 50, n. 2, p. 208, doi. 10.1080/03602532.2017.1415928

By:

Dhaini, Hassan R.;
El Hafi, Bassam;
Khamis, Assem M.

Publication type:

Article

Effects of rAAV-Mediated sox9 Overexpression on the Biological Activities of Human Osteoarthritic Articular Chondrocytes in Their Intrinsic Three-Dimensional Environment.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1637, doi. 10.3390/jcm8101637

By:

Daniels, Oliver;
Frisch, Janina;
Venkatesan, Jagadeesh K.;
Rey-Rico, Ana;
Schmitt, Gertrud;
Cucchiarini, Magali

Publication type:

Article

Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders.

Published in:

Yonago Acta Medica, 2019, v. 62, n. 3, p. 244, doi. 10.33160/yam.2019.09.001

By:

Mitsutaka Ebiki;
Tetsuya Okazaki;
Masachika Kai;
Kaori Adachi;
Eiji Nanba

Publication type:

Article

Autonomic dysfunction: a novel neurological phenotype associated with Zika virus infection?

Published in:

2018

By:

Carod-Artal, Francisco Javier

Publication type:

Editorial

CD44<sup>+</sup>/CD24<sup>-</sup> phenotype predicts a poor prognosis in triple-negative breast cancer.

Published in:

Oncology Letters, 2017, v. 14, n. 5, p. 5890, doi. 10.3892/ol.2017.6959

By:

HUI WANG;
LI WANG;
YING SONG;
SHUHUAI WANG;
XU HUANG;
QIJIA XUAN;
XINMEI KANG;
QINGYUAN ZHANG

Publication type:

Article

Lack of microsatellite instability in gastrointestinal stromal tumors.

Published in:

Oncology Letters, 2017, v. 14, n. 5, p. 5221, doi. 10.3892/ol.2017.6884

By:

CAMPANELLA, NATHÁLIA C.;
SCAPULATEMPO-NETO, CRISTOVAM;
ABRAHÃO-MACHADO, LUCAS FARIA;
TORRES DE OLIVERIA, ANTÔNIO TALVANE;
BERARDINELLI, GUSTAVO N.;
GUIMARÃES, DENISE PEIXOTO;
REIS, RUI M.

Publication type:

Article

Integrating brain imaging endophenotypes with GWAS for Alzheimer's disease.

Published in:

Quantitative Biology, 2021, v. 9, n. 2, p. 185, doi. 10.1007/s40484-020-0202-9

By:

Knutson, Katherine A.;
Wei Pan

Publication type:

Article

Transcriptome-wide association studies: a view from Mendelian randomization.

Published in:

Quantitative Biology, 2021, v. 9, n. 2, p. 107, doi. 10.1007/s40484-020-0207-4

By:

Huanhuan Zhu;
Xiang Zhou

Publication type:

Article

The statistical practice of the GTEx Project: from single to multiple tissues.

Published in:

Quantitative Biology, 2021, v. 9, n. 2, p. 151, doi. 10.1007/s40484-020-0210-9

By:

Xu Liao;
Xiaoran Chai;
Xingjie Shi;
Chen, Lin S.;
Jin Liu

Publication type:

Article

Syndromic male subfertility: A network view of genome–phenome associations.

Published in:

Andrology, 2022, v. 10, n. 4, p. 720, doi. 10.1111/andr.13167

By:

Mikec, Špela;
Kolenc, Živa;
Peterlin, Borut;
Horvat, Simon;
Pogorevc, Neža;
Kunej, Tanja

Publication type:

Article

Early saccades in amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 4, p. 294, doi. 10.3109/21678421.2013.783077

By:

Burrell, James R.;
Carpenter, Roger H. S.;
Hodges, John R.;
Kiernan, Matthew C.

Publication type:

Article

The Potential of Metabolomics in Biomedical Applications.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/metabo12020194

By:

Gonzalez-Covarrubias, Vanessa;
Martínez-Martínez, Eduardo;
del Bosque-Plata, Laura

Publication type:

Article

Two Metabolomics Phenotypes of Human Hepatocellular Carcinoma in Non-Alcoholic Fatty Liver Disease According to Fibrosis Severity.

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 1, p. 54, doi. 10.3390/metabo11010054

By:

Buchard, Benjamin;
Teilhet, Camille;
Abeywickrama Samarakoon, Natali;
Massoulier, Sylvie;
Joubert-Zakeyh, Juliette;
Blouin, Corinne;
Reynes, Christelle;
Sabatier, Robert;
Biesse-Martin, Anne-Sophie;
Vasson, Marie-Paule;
Abergel, Armando;
Demidem, Aicha

Publication type:

Article

Effects of Probiotics Administration on Human Metabolic Phenotype.

Published in:

Metabolites (2218-1989), 2020, v. 10, n. 10, p. 396, doi. 10.3390/metabo10100396

By:

Ghini, Veronica;
Tenori, Leonardo;
Pane, Marco;
Amoruso, Angela;
Marroncini, Giada;
Squarzanti, Diletta Francesca;
Azzimonti, Barbara;
Rolla, Roberta;
Savoia, Paola;
Tarocchi, Mirko;
Galli, Andrea;
Luchinat, Claudio

Publication type:

Article

Metabolomic Biomarkers for Detection, Prognosis and Identifying Recurrence in Endometrial Cancer.

Published in:

Metabolites (2218-1989), 2020, v. 10, n. 8, p. 314, doi. 10.3390/metabo10080314

By:

Njoku, Kelechi;
Sutton, Caroline J.J;
Whetton, Anthony D.;
Crosbie, Emma J.

Publication type:

Article

Current Status of Metabolomic Biomarker Discovery: Impact of Study Design and Demographic Characteristics.

Published in:

Metabolites (2218-1989), 2020, v. 10, n. 6, p. 224, doi. 10.3390/metabo10060224

By:

Tolstikov, Vladimir;
Moser, A. James;
Sarangarajan, Rangaprasad;
Narain, Niven R.;
Kiebish, Michael A.

Publication type:

Article

Integration of Metabolomic and Other Omics Data in Population-Based Study Designs: An Epidemiological Perspective.

Published in:

Metabolites (2218-1989), 2019, v. 9, n. 6, p. 117, doi. 10.3390/metabo9060117

By:

Chu, Su H.;
Huang, Mengna;
Kelly, Rachel S.;
Benedetti, Elisa;
Siddiqui, Jalal K.;
Zeleznik, Oana A.;
Pereira, Alexandre;
Herrington, David;
Wheelock, Craig E.;
Krumsiek, Jan;
McGeachie, Michael;
Moore, Steven C.;
Kraft, Peter;
Mathé, Ewy;
Lasky-Su, Jessica

Publication type:

Article

Lysophosphatidic Acid Modulates TGF-β2-Induced Biological Phenotype in Human Conjunctival Fibroblasts.

Published in:

Life (2075-1729), 2024, v. 14, n. 6, p. 770, doi. 10.3390/life14060770

By:

Watanabe, Megumi;
Tsugeno, Yuri;
Sato, Tatsuya;
Higashide, Megumi;
Nishikiori, Nami;
Umetsu, Araya;
Ogawa, Toshifumi;
Furuhashi, Masato;
Ohguro, Hiroshi

Publication type:

Article

Prediction of complex traits: Conciliating genetics and statistics.

Published in:

Journal of Animal Breeding & Genetics, 2017, v. 134, n. 3, p. 178, doi. 10.1111/jbg.12269

By:

Manfredi, E.;
Tusell, L.;
Vitezica, Z.G.

Publication type:

Article

Combination of Ginsenosides Rb2 and Rg3 Promotes Angiogenic Phenotype of Human Endothelial Cells via PI3K/Akt and MAPK/ERK Pathways.

Published in:

Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.618773

By:

Choi, Ran Joo;
Mohamad Zobir, Siti Zuraidah;
Alexander-Dann, Ben;
Sharma, Nitin;
Ma, Marcella K.L.;
Lam, Brian Y.H.;
Yeo, Giles S.H.;
Zhang, Weidong;
Fan, Tai-Ping;
Bender, Andreas

Publication type:

Article

LXR Activation Induces a Proinflammatory Trained Innate Immunity-Phenotype in Human Monocytes.

Published in:

Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00353

By:

Sohrabi, Yahya;
Sonntag, Glenn V. H.;
Braun, Laura C.;
Lagache, Sina M. M.;
Liebmann, Marie;
Klotz, Luisa;
Godfrey, Rinesh;
Kahles, Florian;
Waltenberger, Johannes;
Findeisen, Hannes M.

Publication type:

Article

Addressing Profiles of Systemic Inflammation Across the Different Clinical Phenotypes of Acutely Decompensated Cirrhosis.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00476

By:

Trebicka, Jonel;
Amoros, Alex;
Pitarch, Carla;
Titos, Esther;
Alcaraz-Quiles, José;
Schierwagen, Robert;
Deulofeu, Carmen;
Fernandez-Gomez, Javier;
Piano, Salvatore;
Caraceni, Paolo;
Oettl, Karl;
Sola, Elsa;
Laleman, Wim;
McNaughtan, Jane;
Mookerjee, Rajeshwar P.;
Coenraad, Minneke J.;
Welzel, Tania;
Steib, Christian;
Garcia, Rita;
Gustot, Thierry

Publication type:

Article

Human adult neurogenesis across the ages: An immunohistochemical study.

Published in:

Neuropathology & Applied Neurobiology, 2016, v. 42, n. 7, p. 621, doi. 10.1111/nan.12337

By:

Dennis, C. V.;
Suh, L. S.;
Rodriguez, M. L.;
Kril, J. J.;
Sutherland, G. T.

Publication type:

Article

CD8+ T–cell Exhaustion Phenotype in Human Asymptomatic and Ocular Toxoplasmosis.

Published in:

Ocular Immunology & Inflammation, 2024, v. 32, n. 7, p. 1218, doi. 10.1080/09273948.2023.2217906

By:

García-López, Laura Lorena;
Vargas-Montes, Mónica;
Osorio-Méndez, Juan Felipe;
Cardona, Néstor;
Hernández De Los Ríos, Alejandro;
Toro-Acevedo, Carlos Andrés;
Arenas-García, Juan Camilo;
Mantilla-Muriel, Luz Eliana;
Torres, Elizabeth;
Valencia-Hernández, Juan D.;
Acosta-Dávila, Alejandro;
de-la-Torre, Alejandra;
Celis-Giraldo, Daniel;
Mejía Oquendo, Manuela;
Sepúlveda-Arias, Juan Carlos;
Gómez-Marín, Jorge Enrique

Publication type:

Article

A Call to Expand the Scope of Digital Phenotyping.

Published in:

Journal of Medical Internet Research, 2023, v. 25, n. 1, p. 1, doi. 10.2196/39546

By:

De Boer, Christopher;
Ghomrawi, Hassan;
Zeineddin, Suhail;
Linton, Samuel;
Kwon, Soyang;
Abdullah, Fizan

Publication type:

Article

Requirements and Operational Guidelines for Secure and Sustainable Digital Phenotyping: Design and Development Study.

Published in:

Journal of Medical Internet Research, 2021, v. 23, n. 4, p. N.PAG, doi. 10.2196/20996

By:

Jagesar, Raj R;
Vorstman, Jacob A;
Kas, Martien J

Publication type:

Article

Requirements and Operational Guidelines for Secure and Sustainable Digital Phenotyping: Design and Development Study.

Published in:

2021

By:

Jagesar, Raj R;
Vorstman, Jacob A;
Kas, Martien J

Publication type:

journal article

Innate lymphocyte cells in asthma phenotypes.

Published in:

Clinical & Translational Allergy, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13601-015-0068-5

By:

Ozyigit, Leyla Pur;
Morita, Hideaki;
Akdis, Mubeccel

Publication type:

Article

Association between CYP2C19 extensive metabolizer phenotype and childhood anti-reflux surgery following failed proton pump inhibitor medication treatment.

Published in:

2018

By:

Franciosi, James P.;
Mougey, Edward B.;
Williams, Andre;
Gomez Suarez, Roberto A.;
Thomas, Cameron;
Creech, Christa L.;
George, Katherine;
Corao, Diana;
Lima, John J.

Publication type:

journal article