Results 171 to 180 of about 37,179 (261)

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

The Journal of Pathology, Volume 270, Issue 3, Page 380-395, November 2026.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti, Martina Brigida Romanello, Luca Agnelli, Matteo Orlandi, Luca Bertoli, Sara Picinoli, Irene Pezzali, Giulio Eugenio Mandelli, Daniela Medicina, Giovanni Ribaudo, Adele Busico, Elena Conca, Vilma Pellegrini, Piera Balzarini, Daniele Gallucci, Anna Di Matteo, Davide Lombardi, Claudia Ghigna, Giancarlo Pruneri, Alessandra Gianoncelli, Marzia Rossato, William Vermi   +21 more
wiley   +1 more source

Variant calling in nonmodel organisms with snpArcher. [PDF]

Mol Biol Evol
Mirchandani C, Omarjee A, Achaz G, Enbody ED, Thomas GWC, Sackton TB.   +5 more
europepmc   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Unified Multi-Caller Ensemble (UME) Generates an Unbiased Maize Haplotype Map for Variable Coverage Whole Genome Data. [PDF]

Mol Ecol Resour
Vallebueno-Estrada M, Swarts K.
europepmc   +1 more source

The MexMAGIC population reveals the genetic architecture of traits exhibiting clinal variation in Mexican native maize

New Phytologist, Volume 252, Issue 3, Page 1296-1313, November 2026.
The MexMAGIC population mixes native maize varieties from across Mexico to study functional genetic diversity. Summary Defining the genetic basis of local adaptation is a key goal of evolutionary biology and crop improvement. Theory predicts that when selective pressures follow differences in the environment, a cline will be established.
Sergio Perez‐Limón, Ana Laura Alonso‐Nieves, M. Rosario Ramírez‐Flores, G. Carolina Cintora‐Martínez, M. Nancy Salazar‐Vidal, Jorge Vladimir Torres‐Rodriguez, Jessica Carcaño‐Macías, Melanie G. Perryman, Oliver H. S. Paulson, Jagdeep S. Sidhu, Peng Yu, Victor Llaca, Kevin A. Fengler, Forrest Li, Daniel E. Runcie, Jeffrey Ross‐Ibarra, C. Stewart Gillmor, Rubén Rellán‐Álvarez, Ruairidh J. H. Sawers   +18 more
wiley   +1 more source

Allelic Variants of the <i>DPYD</i> Gene in Russian Patients with Cancer: The Results of Exome Sequencing. [PDF]

Genes (Basel)
Fedorinov D, Lyadov V, Lyadova M, Abdullaev S, Sychev I, Filatova A, Danilov L, Glotov O, Budagova I, Mirzaev K, Sychev D.   +10 more
europepmc   +1 more source

Multi‐regional Organoid Biobank Reveals FAK‐ACSL1‐Driven Doxorubicin‐Resistance and Predictive Biomarkers in Breast Cancer

Advanced Science, Volume 13, Issue 55, 5 October 2026.
This study established a high‐quality organoid biobank derived from 68 tumor sites across 50 Chinese patients, elucidated the drug sensitivity‐based molecular subtyping in breast cancer, and revealed a novel mechanism of drug resistance mediated by the FAK‐ACSL1 pathway.
Hao Xu, Zhijun Qin, Jiapeng Yang, Baoyuan Zhang, Manqing Cao, Peng Wang, Zaiqi Wang, Jinghui Cheng, Lei Wang, Hong Liu, Hui Yang   +10 more
wiley   +1 more source

Exome-based cancer driver gene comprehensive testing can provide a genetic diagnosis for individuals with triple-negative breast cancer. [PDF]

PLoS One
Alzate D, Sánchez AY, Pacheco Y, Isaza Ruget M, Sánchez R, Castillo C, Parra-López CA.   +6 more
europepmc   +1 more source

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal‐epidermal adhesion. We investigated the genetic cause of JEB in three related mixed‐breed puppies presenting with congenital skin blistering and ulceration. Whole‐genome sequencing of one affected dog followed by comparison
Sarah Kiener, Ronnie Kaufmann, Ori Brenner, Vidhya Jagannathan, Tosso Leeb   +4 more
wiley   +1 more source

DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data. [PDF]

NAR Genom Bioinform
Cort Nielsen M, Hagen CM, Stoltze UK, Hansen TVO, Nyegaard M, Hjalgrim H, Bækvad-Hansen M, Byrjalsen A, Schmiegelow K, Wadt K, Bybjerg-Grauholm J, Rasmussen S.   +11 more
europepmc   +1 more source