Works matching DE "PHENOTYPES"

Results: 5000

Evaluating first‐line genetic testing strategies for inpatients with congenital heart defects.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 3, p. 1, doi. 10.1002/jgc4.70073

By:

Lindstrom, Al;
Breman, Amy;
Fitzgerald‐Butt, Sara;
Helvaty, Lindsey R.;
Ware, Stephanie M.;
Helm, Benjamin M.

Publication type:

Article

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 3, p. 1, doi. 10.1002/jgc4.1993

By:

Miller, Erin M.;
Brown, Emily;
Christian, Susan;
Kelly, Melissa A.;
Knight, Linda M.;
Saberi, Sara;
Rigelsky, Christina;
Ingles, Jodie

Publication type:

Article

Multimodal Rehabilitation Including Strengthening Exercise Is Effective in Improving Fear-Avoidance Beliefs in Individuals With Patellofemoral Pain: A Critically Appraised Topic.

Published in:

Journal of Sport Rehabilitation, 2025, v. 34, n. 5, p. 581, doi. 10.1123/jsr.2024-0043

By:

Meade, Sarah;
Kim, Sungwan;
Glaviano, Neal R.

Publication type:

Article

Motor Neuron Involvement in Two ATP13A2‐Related Families: ALS And HSP‐Like Phenotypes.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 6, p. 852, doi. 10.1002/mdc3.70027

By:

Khosravi, Sepehr;
Amini, Elaheh;
Emamikhah, Maziar;
Alavi, Afagh;
Lang, Anthony E.;
Rohani, Mohammad

Publication type:

Article

A Case Series of Unilateral Peripheral Neuropathy.

Published in:

Journal of the Peripheral Nervous System, 2025, v. 30, n. 2, p. 1, doi. 10.1111/jns.70033

By:

Kramarz, Caroline;
Masingue, Marion;
Bouhour, Françoise;
Vial, Christophe;
Latour, Philippe;
Vandendries, Christophe;
Maisonobe, Thierry;
Coebergh, Jan;
Blake, Julian;
Reilly, Mary M.;
Stojkovic, Tanya;
Rossor, Alexander M.

Publication type:

Article

High‐Fat Diet Disrupt Nerve Function by Targeting Schwann Cells.

Published in:

Journal of the Peripheral Nervous System, 2025, v. 30, n. 2, p. 1, doi. 10.1111/jns.70036

By:

Mondschein, Amanda S.;
DiPersio, Mathieu R.;
Zajaceskowski, Julia;
Nimmagadda, Hasitha;
Acheta, Jenica;
Salinero, Abigail E.;
Haslam, Sarah;
Poitelon, Elwenn;
Elston, Sophia;
McFarland, Ethan;
Beck, Brianna;
Zuloaga, Kristen L.;
Rumora, Amy E.;
Poitelon, Yannick;
Belin, Sophie

Publication type:

Article

SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.

Published in:

Journal of the Peripheral Nervous System, 2025, v. 30, n. 2, p. 1, doi. 10.1111/jns.70030

By:

Pi, Byung Kwon;
Lee, Ah. Jin;
Nam, Soo Hyun;
Chung, Ki Wha;
Choi, Byung‐Ok

Publication type:

Article

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 6, p. 1, doi. 10.1002/mgg3.70108

By:

Kamps, Rick;
Martens, Herm;
de Koning, Bart;
Smeets, Bert;
van Geel, Michel

Publication type:

Article

Metabolomic Data May Support the Development of Personalized Nutrition Approaches to Type 2 Diabetes Management.

Published in:

Nutrition Reviews, 2025, v. 83, n. 7, p. 1374, doi. 10.1093/nutrit/nuaf059

By:

Lee, Danielle J;
Balaji, Shragvi;
Rotter, Jerome I;
Wood, Alexis C

Publication type:

Article

Applying interpretable machine learning to assess intraspecific trait divergence under landscape‐scale population differentiation.

Published in:

Applications in Plant Sciences, 2025, v. 13, n. 3, p. 1, doi. 10.1002/aps3.70015

By:

Majumder, Sambadi;
Mason, Chase M.

Publication type:

Article

Fully automatic extraction of morphological traits from the web: Utopia or reality?

Published in:

Applications in Plant Sciences, 2025, v. 13, n. 3, p. 1, doi. 10.1002/aps3.70005

By:

Marcos, Diego;
van de Vlasakker, Robert;
Athanasiadis, Ioannis N.;
Bonnet, Pierre;
Goëau, Hervé;
Joly, Alexis;
Kissling, W. Daniel;
Leblanc, César;
van Proosdij, André S. J.;
Panousis, Konstantinos P.

Publication type:

Article

Exploration of the GM-IC-DLBCL Axis: A Mendelian Randomization Analysis of the Gut Microbiota, Immune Cells, and Diffuse Large B-Cell Lymphoma.

Published in:

British Journal of Hospital Medicine (17508460), 2025, v. 86, n. 6, p. 1, doi. 10.12968/hmed.2025.0068

By:

Chen, Haoqing;
Gao, Yan;
Huang, Huiqiang

Publication type:

Article

Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson's disease pedigrees.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1604683

By:

Zhang, Qi;
Xie, Xiaoming;
Li, Hairong;
Li, Yulei;
Huang, Hongyao

Publication type:

Article

Auto-branch multi-task learning for simultaneous prediction of multiple correlated traits associated with Alzheimer's disease.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1538544

By:

Liang, Jiaqi;
Xue, Zhao;
Zhou, Wenchao;
Guo, Xiangjie;
Wen, Yalu

Publication type:

Article

Insertional Mutations in RsFLC2 Disrupt Vernalization‐Induced Intragenic Looping and H3K27me3 Enrichment in Radish.

Published in:

Physiologia Plantarum, 2025, v. 177, n. 3, p. 1, doi. 10.1111/ppl.70314

By:

Lee, Sang Woo;
Kim, Hyunjoon;
Kim, Dong‐Hwan

Publication type:

Article

Lost for more than a century: the rediscovery of Alsodes vittatus (Philippi, 1902) (Anura, Alsodidae), one of the rarest and most elusive amphibians from Chile.

Published in:

ZooKeys, 2025, n. 1230, p. 195, doi. 10.3897/zookeys.1230.135523

By:

Correa, Claudio;
Riveros-Riffo, Edvin;
Donoso, Juan P.

Publication type:

Article

Etiology and outcomes of primary renal tubular acidosis.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 8, p. 2515, doi. 10.1007/s00467-025-06747-9

By:

Priyadarshini, Sukanya;
Sinha, Aditi;
Jana, Manisha;
Tandon, Radhika;
Sikka, Kapil;
Mathur, Vijay Prakash;
Bhatt, Girish Chandra;
Yadav, Menka;
Meena, Jitendra Kumar;
Khandelwal, Priyanka;
Hari, Pankaj;
Bagga, Arvind

Publication type:

Article

Comparison of B lymphocyte profile between membranous nephropathy and idiopathic nephrotic syndrome pediatric patients.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 8, p. 2551, doi. 10.1007/s00467-025-06740-2

By:

Riganati, Martina;
Conversano, Ester;
Zotta, Federica;
Gargiulo, Antonio;
Antonucci, Luca;
Giannini, Carolina;
Ricci, Giulia;
Diomedi-Camassei, Francesca;
Debiec, Hanna;
Ronco, Pierre;
Emma, Francesco;
Vivarelli, Marina;
Colucci, Manuela

Publication type:

Article

Differences in kidney prognosis between congenital and infantile nephrotic syndrome.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 8, p. 2539, doi. 10.1007/s00467-025-06735-z

By:

Inoki, Yuta;
Horinouchi, Tomoko;
Aoyama, Shuhei;
Kimura, Yuka;
Ichikawa, Yuta;
Tanaka, Yu;
Ueda, Chika;
Kitakado, Hideaki;
Kondo, Atsushi;
Sakakibara, Nana;
Kamei, Koichi;
Hamada, Riku;
Fujita, Naoya;
Gotoh, Yoshimitsu;
Kaku, Yoshitsugu;
Nishiyama, Kei;
Okamoto, Takayuki;
Toya, Yukiko;
Yamamura, Tomohiko;
Ishimori, Shingo

Publication type:

Article

Selection signature analysis using whole genome resequencing data reveals candidate genes for white plumage color in Korean native ducks.

Published in:

Animal Bioscience, 2025, v. 38, n. 8, p. 1594, doi. 10.5713/ab.24.0718

By:

Jaewon Kim;
Jaegwon Kim;
Eunjin Cho;
Sunghyun Cho;
Minjun Kim;
Won-Hyung Chung;
Jung-Woo Choi;
Hyo Jun Choo;
Jun Heon Lee

Publication type:

Article

Author Correction: PTEN deficiency reprogrammes human neural stem cells towards a glioblastoma stem cell-like phenotype.

Published in:

2025

By:

Duan, Shunlei;
Yuan, Guohong;
Liu, Xiaomeng;
Ren, Ruotong;
Li, Jingyi;
Zhang, Weizhou;
Wu, Jun;
Xu, Xiuling;
Fu, Lina;
Li, Ying;
Yang, Jiping;
Zhang, Weiqi;
Bai, Ruijun;
Yi, Fei;
Suzuki, Keiichiro;
Gao, Hua;
Esteban, Concepcion Rodriguez;
Zhang, Chuanbao;
Belmonte, Juan Carlos Izpisua;
Chen, Zhiguo

Publication type:

Correction Notice

Development and accuracy assessment of molecular markers associated with crown rust resistance genes in oat.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0324826

By:

Chowdhury, Rawnaq N.;
Nandety, Raja Sekhar;
Yimer, Belayneh Admassu;
Fiedler, Jason;
Sapkota, Suraj;
Klos, Kathy Esvelt

Publication type:

Article

Karyotype uniformity in populations of the endemic Hemiancistrus fuliginosus (Loricariidae: Hypostomini) collected in the upper and middle Uruguai River.

Published in:

Neotropical Ichthyology, 2025, v. 23, n. 1, p. 1, doi. 10.1590/1982-0224-2024-0058

By:

Thums Konerat, Jocicléia;
Bueno, Vanessa;
de Brito Portela-Castro, Ana Luiza;
Cristina Martins-Santos, Isabel;
Pavan Margarido, Vladimir

Publication type:

Article

Uncovering somatic genetic drivers in prostate cancer through comprehensive genome-wide analysis.

Published in:

GeroScience, 2025, v. 47, n. 3, p. 5039, doi. 10.1007/s11357-025-01623-8

By:

Lin, Lede;
Li, Zhen;
Chen, Kai;
Shao, Yanxiang;
Li, Xiang

Publication type:

Article

KLF4 variants in palmoplantar, nonsyndromic and syndromic epidermal differentiation disorder phenotypes.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 8, doi. 10.1093/bjd/ljaf117

By:

Gruber, Robert W;
Schmuth, Matthias

Publication type:

Article

Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data.

Published in:

Animal Genetics, 2025, v. 56, n. 3, p. 1, doi. 10.1111/age.70020

By:

Abitbol, Marie;
Cloquell, Ana;
Kaczmarska, Adriana;
Holmes, Karen;
Lühken, Gesine;
Macaulay, Kristina

Publication type:

Article

Genome‐wide association study of novel feedlot profitability‐related traits in Nelore cattle.

Published in:

Animal Genetics, 2025, v. 56, n. 3, p. 1, doi. 10.1111/age.70018

By:

Pereira, Letícia Silva;
Baldi, Fernando;
Rosa, Guilherme;
Stafuzza, Nedenia Bonvino;
Albertini, Tiago Zanett;
Carvalho, Minos Esperândio;
Lobo, Raysildo Barbosa;
Peripolli, Elisa;
Eifert, Eduardo da Costa;
Magnabosco, Cláudio Ulhôa

Publication type:

Article

A genetic modifier links integrin α5 to the phenotypic variation in fibronectin 1a mutant zebrafish.

Published in:

PLoS Genetics, 2025, v. 21, n. 6, p. 1, doi. 10.1371/journal.pgen.1011747

By:

Capon, Samuel J.;
Maroufidou, Anastasia;
Feltes, McKenna;
Xu, Yanli;
Matharoo, Darpan Kaur;
Jülich, Dörthe;
Holley, Scott A.;
Farber, Steven A.;
Stainier, Didier Y. R.

Publication type:

Article

Differential expression analysis with inmoose, the integrated multi-omic open-source environment in Python.

Published in:

BMC Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12859-025-06180-7

By:

Colange, Maximilien;
Appé, Guillaume;
Meunier, Léa;
Weill, Solène;
Nordor, Akpéli;
Behdenna, Abdelkader

Publication type:

Article

Cold receptor TRPM8 as a target for migraine-associated pain and affective comorbidities.

Published in:

Journal of Headache & Pain, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s10194-025-02082-4

By:

Cabañero, David;
Carter, Edward P.;
González-Cano, Rafael;
Cobos, Enrique J.;
Fernández-Carvajal, Asia;
Ferrer-Montiel, Antonio

Publication type:

Article

Spiritual Well-Being and Phenoconversion in Huntington's Disease: Analysis from the Prospective Huntington at Risk Observational Study.

Published in:

Journal of Palliative Medicine, 2025, v. 28, n. 6, p. 803, doi. 10.1089/jpm.2024.0227

By:

Sokol, Leonard L.;
Ashner, Marissa C.;
Bega, Danny;
Kluger, Benzi M.;
Smith, Alexander K.;
Marder, Karen S.;
Garcia, Tanya P.

Publication type:

Article

Quantitative Trait Analysis and Path Coefficient Modelling for yield Optimization in Rice (Oryza sativa L.) Restorer Lines.

Published in:

Ecology, Environment & Conservation (0971765X), 2025, v. 31, p. S374, doi. 10.53550/EEC.2025.v31i03s.060

By:

Tiwari, Shweta;
Thakur, Sunny;
Elahi, Tasphiya;
Bhagat, Roshini;
Yadav, Bhavna

Publication type:

Article

Heterosis Analysis in Single cross Maize (Zea mays L.) Hybrids.

Published in:

Ecology, Environment & Conservation (0971765X), 2025, v. 31, p. S149, doi. 10.53550/EEC.2025.v31i03s.026

By:

Kumhar, Govardhan Lal;
Dadheech, Amit;
Sharma, Hemlata;
Dubay, Rajendra Babu;
Jain, Devendra;
Uttej, Karla

Publication type:

Article

The clinical phenotypes and therapeutic strategies for stiff skin syndrome: a case series with literature review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03748-7

By:

Zhang, Caihui;
Gao, Sihao;
Sun, Zhixing;
Wang, Tao;
Song, Hongmei

Publication type:

Article

Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials – a narrative review and systematic update.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03822-0

By:

Wally, Verena;
Welponer, Tobias;
Wiesinger, Hans-Peter;
Diem, Anja;
Thiel, Konstantin;
Geroldinger, Martin;
Zimmermann, Georg;
Hummel, Julia I.;
Dorfer, Sonja;
Hofbauer, Josefina Piñón;
Bauer, Johann W.;
Laimer, Martin

Publication type:

Article

A closer look at frailty in ESRD: Getting the measure right.

Published in:

Hemodialysis International, 2013, v. 17, n. 1, p. 41, doi. 10.1111/j.1542-4758.2012.00719.x

By:

Painter, Patricia;
Kuskowski, Michael

Publication type:

Article

Strategies to adapt data from sensing technologies to identify novel resilience traits: Applications in dairy cattle.

Published in:

Journal of Animal Science, 2025, v. 103, p. 24, doi. 10.1093/jas/skaf102.026

By:

Koltes, James E.

Publication type:

Article

Genomic selection for improved resilience: A closer look to its implementation.

Published in:

Journal of Animal Science, 2025, v. 103, p. 23, doi. 10.1093/jas/skaf102.025

By:

Tiezzi, Francesco

Publication type:

Article

Predicting feed efficiency traits in beef cattle using genomics and rumen microbiomics.

Published in:

Journal of Animal Science, 2025, v. 103, p. 18, doi. 10.1093/jas/skaf102.020

By:

Lakamp, Drew;
Adams, Seidu;
Wells, James E.;
Snelling, Warren M.;
Kuehn, Larry A.;
Fernando, Samodha;
Spangler, Matthew L.

Publication type:

Article

Targeting tumor-associated macrophages in cancer therapy and understanding their complexity.

Published in:

OncoImmunology, 2014, v. 3, n. 9, p. N.PAG, doi. 10.4161/21624011.2014.955356

By:

Cannarile, Michael A.;
Ries, Carola H.;
Hoves, Sabine;
Rüttinger, Dominik

Publication type:

Article

Limitations of bystander killing in Th1/M1 immune responses against a secreted tumor antigen.

Published in:

OncoImmunology, 2014, v. 3, n. 9, p. N.PAG, doi. 10.4161/21624011.2014.954953

By:

Tveita, Anders Aune;
Haabeth, Ole Audun;
Bogen, Bjarne

Publication type:

Article

Generation and immunosuppressive functions of p53-induced human adaptive regulatory T cells.

Published in:

OncoImmunology, 2013, v. 2, n. 7, p. e25514-1, doi. 10.4161/onci.25514

By:

Mandapathil, Magis;
Visus, Carmen;
Finn, Olivera J.;
Lang, Stephan;
Whiteside, Theresa L.

Publication type:

Article

An apolipoprotein A-I mimetic targets scavenger receptor A on tumor-associated macrophages.

Published in:

OncoImmunology, 2013, v. 2, n. 6, p. e24461-1, doi. 10.4161/onci.24461

By:

Neyen, Claudine;
Mukhopadhyay, Subhankar;
Gordon, Siamon;
Hagemann, Thorsten

Publication type:

Article

Promoting natural killer cell functions by recombinant immunoligands mimicking an induced self phenotype.

Published in:

OncoImmunology, 2013, v. 2, n. 6, p. e24481-1, doi. 10.4161/onci.24481

By:

Kellner, Christian;
Gramatzki, Martin;
Peipp, Matthias

Publication type:

Article

The microenvironment of human neuroblastoma supports the activation of tumor-associated T lymphocytes.

Published in:

OncoImmunology, 2013, v. 2, n. 3, p. e23618-1, doi. 10.4161/onci.23618

By:

Carlson, Lena-Maria;
De Geer, Anna;
Sveinbjørnsson, Baldur;
Orrego, Abiel;
Martinsson, Tommy;
Kogner, Per;
Levitskaya, Jelena

Publication type:

Article

Role of c-MYC in tumor-associated macrophages and cancer progression.

Published in:

OncoImmunology, 2013, v. 2, n. 2, p. e22984-1, doi. 10.4161/onci.22984

By:

Pello, Oscar M.;
Andrés, Vicente

Publication type:

Article

Senescence and NFκB A trojan horse in tumors?

Published in:

OncoImmunology, 2012, v. 1, n. 9, p. 1, doi. 10.4161/onci.22525

By:

Crescenzi, Elvira;
De Palma, Raffaele;
Leonardi, Antonio

Publication type:

Article

Role of the tumor suppressor ARF in macrophage polarization.

Published in:

OncoImmunology, 2012, v. 1, n. 8, p. 1227, doi. 10.4161/onci.21207

By:

Herranz, Sandra;
Través, Paqui G.;
Luque, Alfonso;
Hortelano, Sonsoles

Publication type:

Article

Mechanisms and Prevention Strategies of Macrophage Involvement in the Progression From Hypertension to Heart Failure.

Published in:

International Journal of Hypertension, 2025, v. 2025, p. 1, doi. 10.1155/ijhy/2618127

By:

Zhang, Ningning;
Cao, Pengyu;
Wang, Bojian;
Yang, Jinting;
Zhao, Lijing;
Shao, Wangshu;
Chaudhary, Nidhi

Publication type:

Article

Markers of progression and invasion in short term follow up of untreated breast cancer patients.

Published in:

Cancer Biomarkers, 2015, v. 15, n. 6, p. 745, doi. 10.3233/CBM-150516

By:

Rabi, Zaki Abu;
Todorović-Raković, Nataša;
Vujasinović, Tijana;
Milovanović, Jelena;
Nikolić-Vukosavljević, Dragica

Publication type:

Article