Works matching DE "GENETIC mutation"

Results: 5000

Parkinson's disease‐linked Kir4.2 mutation R28C leads to loss of ion channel function.

Published in:

Journal of Physiology, 2025, v. 603, n. 12, p. 3499, doi. 10.1113/JP287046

By:

Chen, Xiaoyi;
Finol‐Urdaneta, Rocio K.;
Chen, Mo;
Sykes, Alex M.;
Gao, Bingmiao;
Iqbal, Jamila;
Adams, David J.;
Mellick, George D.;
Ma, Linlin

Publication type:

Article

Air Pollution and Pituitary Adenoma Pathogenesis: Unraveling Environmental Impacts on Neuroendocrine Function and Tumorigenesis.

Published in:

Journal of Xenobiotics, 2025, v. 15, n. 3, p. 71, doi. 10.3390/jox15030071

By:

Boyke, Andre E.;
Menaker, Simon A.;
Nunez, Alberto;
Black, Keith L.;
Ljubimov, Vladimir A.

Publication type:

Article

Screening of Premature Ovarian Insufficiency-Associated Genes in Turkish Patients.

Published in:

Namık Kemal Tıp Dergisi, 2025, v. 13, n. 2, p. 1, doi. 10.4274/nkmj.galenos.2025.83435

By:

ATLI, Emine İkbal;
GÜRKAN, Hakan;
YALÇINTEPE, Sinem;
DEMİR, Selma;
GÜLER, Hazal SEZGİNER;
ZHURİ, Drenushe;
ATLI, Engin;
ELTER, Koray;
ATEŞ, Sinan

Publication type:

Article

Prognostic Factors Influencing the Efficacy of Regorafenib in the Treatment of Metastatic Colorectal Cancer.

Published in:

Namık Kemal Tıp Dergisi, 2025, v. 13, n. 2, p. 1, doi. 10.4274/nkmj.galenos.2025.34654

By:

SEVER, Nadiye;
BAYOĞLU, İbrahim Vedat

Publication type:

Article

KRAS mutated NSCLC: past, present, and future directions in a rapidly evolving landscape.

Published in:

Oncologist, 2025, v. 30, n. 6, p. 1, doi. 10.1093/oncolo/oyaf153

By:

Frisch, Austin;
Martin, Eric;
Kim, So Yeon;
Riess, Jonathan W;
Sen, Triparna;
Karim, Nagla

Publication type:

Article

The Oncologist, 2025, Vol, XX, Issue XX Predictive role of ARID1A and B2M mutations and the antigen presentation pathway in the efficacy of definitive chemoradiotherapy for cervical cancer.

Published in:

Oncologist, 2025, v. 30, n. 6, p. 1, doi. 10.1093/oncolo/oyaf133

By:

Zhu, Chenjing;
Gong, Zhen;
Yin, Ping;
Huang, Jian;
He, Dan;
Zhu, Biqing;
Wu, Yaqin;
Wang, Hairong;
Zhang, Yaru;
Jing, Qifan;
Yin, Jiani C;
Li, Yue;
Liu, Jianyao;
Hu, Huanhuan;
Xiao, Shuyue;
Sun, Zhihua;
Xu, Hanzi

Publication type:

Article

Prolonged response to PIK3CA inhibition in an advanced hormone-positive breast cancer patient with 3 mutations in the alpha subunit of PI-3 kinase.

Published in:

Oncologist, 2025, v. 30, n. 6, p. 1, doi. 10.1093/oncolo/oyaf126

By:

Merose, Rotem;
Leibowitz, Raya

Publication type:

Article

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1516562

By:

Xing, Yueyi;
Liu, Han;
Liu, Hua;
Ding, Xueli;
Jing, Xue

Publication type:

Article

CalR and MPL Driver Mutations and Their Role in the Diagnosis and Clinical Course of JAK2-Unmutated Chronic Myeloproliferative Neoplasm: Results from a Pilot Single-Center Study.

Published in:

Medicina (1010660X), 2025, v. 61, n. 6, p. 962, doi. 10.3390/medicina61060962

By:

Tiryaki, Tarık Onur;
Dağlar Aday, Aynur;
Nalçacı, Meliha;
Yavuz, Akif Selim

Publication type:

Article

Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.

Published in:

Medicina (1010660X), 2025, v. 61, n. 6, p. 959, doi. 10.3390/medicina61060959

By:

Jin, Yanyan;
Li, Na;
Chen, Zipei;
Zeng, Ke;
Wang, Jingjing;
Sheng, Aiqin;
Fu, Haidong;
Hu, Lidan;
Mao, Jianhua

Publication type:

Article

A Point Mutation of the Alpha-Tubulin Gene ClTUA Causes Dominant Dwarf Phenotype in Watermelon (Citrullus lanatus).

Published in:

Horticulturae, 2025, v. 11, n. 6, p. 562, doi. 10.3390/horticulturae11060562

By:

Hu, Ziwei;
Zhang, Leichen;
Shi, Jun;
Ying, Quansheng;
Zhang, Huafeng;
Zhang, Xingping;
Deng, Yun;
Wang, Yuhong

Publication type:

Article

Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.

Published in:

JAMA Network Open, 2025, v. 8, n. 6, p. e2517937, doi. 10.1001/jamanetworkopen.2025.17937

By:

West, Courtney E.;
Mirshahi, Uyenlinh L.;
Ruth, Katherine S.;
Sharp, Luke N.;
Arni, Ankit M.;
Turnbull, Clare;
Wright, Caroline F.;
Vaidya, Bijay;
Owens, Martina M.;
Carey, David J.;
Patel, Kashyap A.

Publication type:

Article

Human CD36: Gene Regulation, Protein Function, and Its Role in Atherosclerosis Pathogenesis.

Published in:

Genes, 2025, v. 16, n. 6, p. 705, doi. 10.3390/genes16060705

By:

Rac, Monika

Publication type:

Article

Hereditary haemochromatosis and diabetes.

Published in:

Journal of Diabetes Nursing, 2018, v. 22, n. 4, p. 1

By:

Jennison, Erica;
Wainwright, Patrick

Publication type:

Article

Co-existence of monogenic diabetes and autoimmune diabetes: A case study.

Published in:

Journal of Diabetes Nursing, 2015, v. 19, n. 2, p. 54

By:

Uday, Suma;
Campbell, Fiona;
Cropper, Julie;
Shepherd, Maggie

Publication type:

Article

Detecting monogenic diabetes in the paediatric clinic: Three case studies highlighting diagnosis.

Published in:

Journal of Diabetes Nursing, 2013, v. 17, n. 4, p. 151

By:

Shepherd, Maggie;
Cropper, Julie

Publication type:

Article

Stem cells and growth factors in healing the diabetic foot ulcer.

Published in:

Diabetic Foot Journal, 2019, v. 22, n. 2, p. 32

By:

Garoufalis, Matthew G.

Publication type:

Article

Development of Erect Plant Mutant with Improved Patchouli Alcohol in Patchouli [Pogostemon cablin (Blanco) Benth.].

Published in:

Journal of Essential Oil Research, 2009, v. 21, n. 2, p. 135, doi. 10.1080/10412905.2009.9700132

By:

Rekha, Kanti;
Bhan, M. K.;
Dhar, A. K.

Publication type:

Article

Bacterial evolution: Bugs-to-bunny in a single-hit tropism shift.

Published in:

Nature Reviews Microbiology, 2015, v. 13, n. 4, p. 186, doi. 10.1038/nrmicro3461

By:

Attar, Naomi

Publication type:

Article

Bacterial evolution: Resurrecting motility.

Published in:

Nature Reviews Microbiology, 2015, v. 13, n. 4, p. 187, doi. 10.1038/nrmicro3463

By:

Nunes-Alves, Cláudio

Publication type:

Article

Keeping an eye on P. aeruginosa.

Published in:

Nature Reviews Microbiology, 2015, v. 13, n. 2, p. 69, doi. 10.1038/nrmicro3422

By:

Salter, Susannah J.

Publication type:

Article

Antimicrobials: The benefits of cycling.

Published in:

Nature Reviews Microbiology, 2014, v. 12, n. 11, p. 724, doi. 10.1038/nrmicro3370

By:

Nunes-Alves, Cláudio

Publication type:

Article

Viral evolution: Accordion adaptations go viral.

Published in:

Nature Reviews Microbiology, 2012, v. 10, n. 10, p. 669, doi. 10.1038/nrmicro2883

By:

Jermy, Andrew

Publication type:

Article

Evolution: Co-evolution promotes innovation.

Published in:

Nature Reviews Microbiology, 2012, v. 10, n. 3, p. 161, doi. 10.1038/nrmicro2753

By:

Kåhrström, Christina Tobin

Publication type:

Article

Why do RNA viruses recombine?

Published in:

Nature Reviews Microbiology, 2011, v. 9, n. 8, p. 617, doi. 10.1038/nrmicro2614

By:

Simon-Loriere, Etienne;
Holmes, Edward C.

Publication type:

Article

Biofilms: eDNA limits biofilm attachment.

Published in:

Nature Reviews Microbiology, 2010, v. 8, n. 9, p. 612, doi. 10.1038/nrmicro2424

By:

Jermy, Andrew

Publication type:

Article

Symbiosis: TCA signals a switch.

Published in:

Nature Reviews Microbiology, 2010, v. 8, n. 9, p. 614, doi. 10.1038/nrmicro2434

By:

van Ooij, Christiaan

Publication type:

Article

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.

Published in:

2020

By:

Chami, Nathalie;
Preuss, Michael;
Walker, Ryan W.;
Moscati, Arden;
Loos, Ruth J. F.

Publication type:

journal article

Volatile anesthesia for a child with LPIN1 gene mutation and recurrent rhabdomyolysis.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 9, p. 813, doi. 10.1111/pan.13445

By:

Burstal, Richard J.

Publication type:

Article

Teaching the Pros and Cons of Evolution in the 21st Century.

Published in:

2009

By:

Kirschbaum, Joel

Publication type:

Editorial

THE FIELD OF POPULATION QUALITY.

Published in:

Social Forces, 1939, v. 17, n. 4, p. 468, doi. 10.2307/2570696

By:

Woodward, Julian L.

Publication type:

Article

Sustained Pax6 Expression Generates Primate-like Basal Radial Glia in Developing Mouse Neocortex.

Published in:

PLoS Biology, 2015, v. 13, n. 8, p. 1, doi. 10.1371/journal.pbio.1002217

By:

Wong, Fong Kuan;
Fei, Ji-Feng;
Mora-Bermúdez, Felipe;
Taverna, Elena;
Haffner, Christiane;
Fu, Jun;
Anastassiadis, Konstantinos;
Stewart, A. Francis;
Huttner, Wieland B.

Publication type:

Article

CDK8-Cyclin C Mediates Nutritional Regulation of Developmental Transitions through the Ecdysone Receptor in Drosophila.

Published in:

PLoS Biology, 2015, v. 13, n. 7, p. 1, doi. 10.1371/journal.pbio.1002207

By:

Xie, Xiao-Jun;
Hsu, Fu-Ning;
Gao, Xinsheng;
Xu, Wu;
Ni, Jian-Quan;
Xing, Yue;
Huang, Liying;
Hsiao, Hao-Ching;
Zheng, Haiyan;
Wang, Chenguang;
Zheng, Yani;
Xiaoli, Alus M.;
Yang, Fajun;
Bondos, Sarah E.;
Ji, Jun-Yuan

Publication type:

Article

Far from Membranes, BEACH Domains Regulate Stress-Related mRNAs.

Published in:

PLoS Biology, 2015, v. 13, n. 7, p. 1, doi. 10.1371/journal.pbio.1002189

By:

Robinson, Richard

Publication type:

Article

The Robustness of a Signaling Complex to Domain Rearrangements Facilitates Network Evolution.

Published in:

PLoS Biology, 2014, v. 12, n. 12, p. 1, doi. 10.1371/journal.pbio.1002012

By:

Sato, Paloma M.;
Yoganathan, Kogulan;
Jung, Jae H.;
Peisajovich, Sergio G.

Publication type:

Article

Living in Constant Crisis—When Stress Management Becomes the Problem.

Published in:

PLoS Biology, 2014, v. 12, n. 11, p. 1, doi. 10.1371/journal.pbio.1001999

By:

Roberts, Roland G.

Publication type:

Article

Contribution of Orb2A Stability in Regulated Amyloid-Like Oligomerization of <i>Drosophila</i> Orb2.

Published in:

PLoS Biology, 2014, v. 12, n. 2, p. 1, doi. 10.1371/journal.pbio.1001786

By:

White-Grindley, Erica;
Li, Liying;
Mohammad Khan, Repon;
Ren, Fengzhen;
Saraf, Anita;
Florens, Laurence;
Si, Kausik

Publication type:

Article

Fitness Trade-offs Restrict the Evolution of Resistance to Amphotericin B.

Published in:

PLoS Biology, 2013, v. 11, n. 10, p. 1, doi. 10.1371/journal.pbio.1001692

By:

Vincent, Benjamin Matteson;
Lancaster, Alex Kelvin;
Scherz-Shouval, Ruth;
Whitesell, Luke;
Lindquist, Susan

Publication type:

Article

Deep Genealogy and the Dilution of Risk.

Published in:

PLoS Biology, 2013, v. 11, n. 9, p. 1, doi. 10.1371/journal.pbio.1001660

By:

Roberts, Roland G.

Publication type:

Article

New Insights into Unusual Genetic Disorder Pave the Way for Promising Treatments.

Published in:

PLoS Biology, 2013, v. 11, n. 8, p. 1, doi. 10.1371/journal.pbio.1001628

By:

Weaver, Janelle

Publication type:

Article

A Read-Through Drug Put through Its Paces.

Published in:

PLoS Biology, 2013, v. 11, n. 6, p. 1, doi. 10.1371/journal.pbio.1001458

By:

Roberts, Roland G.

Publication type:

Article

Stat5 Signaling Specifies Basal versus Stress Erythropoietic Responses through Distinct Binary and Graded Dynamic Modalities.

Published in:

PLoS Biology, 2012, v. 10, n. 8, p. 1, doi. 10.1371/journal.pbio.1001383

By:

Porpiglia, Ermelinda;
Hidalgo, Daniel;
Koulnis, Miroslav;
Tzafriri, Abraham R.;
Socolovsky, Merav

Publication type:

Article

LAB-1 Targets PP1 and Restricts Aurora B Kinase upon Entrance into Meiosis to Promote Sister Chromatid Cohesion.

Published in:

PLoS Biology, 2012, v. 10, n. 8, p. 1, doi. 10.1371/journal.pbio.1001378

By:

Tzur, Yonatan B.;
De Carvalho, Carlos Egydio;
Nadarajan, Saravanapriah;
Van Bostelen, Ivo;
Gu, Yanjie;
Chu, Diana S.;
Cheeseman, Iain M.;
Colaiácovo, Monica P.

Publication type:

Article

When Malaria Slips a Vaccine's Net.

Published in:

PLoS Biology, 2012, v. 10, n. 7, p. 1, doi. 10.1371/journal.pbio.1001370

By:

Sedwick, Caitlin

Publication type:

Article

A Systematic Approach to Pair Secretory Cargo Receptors with Their Cargo Suggests a Mechanism for Cargo Selection by Erv14.

Published in:

PLoS Biology, 2012, v. 10, n. 5, p. 1, doi. 10.1371/journal.pbio.1001329

By:

Herzig, Yonatan;
Sharpe, Hayley J.;
Elbaz, Yael;
Munro, Sean;
Schuldiner, Maya

Publication type:

Article

Signals That Trigger Dendrite Growth Are Identified.

Published in:

PLoS Biology, 2011, v. 9, n. 9, p. 1, doi. 10.1371/journal.pbio.1001154

By:

Robinson, Richard

Publication type:

Article

A Dual Binding Mode for RhoGTPases in Plexin Signalling.

Published in:

PLoS Biology, 2011, v. 9, n. 8, p. 1, doi. 10.1371/journal.pbio.1001134

By:

Bell, Christian H.;
Aricescu, A. Radu;
Jones, E. Yvonne;
Siebold, Christian

Publication type:

Article

Alternative Mating Type Configurations (a/α versus a/a or α/α) of Candida albicans Result in Alternative Biofilms Regulated by Different Pathways.

Published in:

PLoS Biology, 2011, v. 9, n. 8, p. 1, doi. 10.1371/journal.pbio.1001117

By:

Yi, Song;
Sahni, Nidhi;
Daniels, Karla J.;
Lu, Kevin L.;
Srikantha, Thyagarajan;
Huang, Guanghua;
Garnaas, Adam M.;
Soll, David R.

Publication type:

Article

Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS.

Published in:

PLoS Biology, 2011, v. 9, n. 4, p. 1, doi. 10.1371/journal.pbio.1000614

By:

Zhihui Sun;
Diaz, Zamia;
Xiaodong Fang;
Hart, Michael P.;
Chesi, Alessandra;
Shorter, James;
Gitler, Aaron D.

Publication type:

Article

How Bird Necks Get Naked.

Published in:

PLoS Biology, 2011, v. 9, n. 3, p. 1, doi. 10.1371/journal.pbio.1001029

By:

Heller, Kira

Publication type:

Article