Results 161 to 170 of about 168,653 (232)

Ancestral Chromosome-Level Assemblies Reveal Posthybridization Genome Evolution in the New Mexico Whiptail Lizard (Aspidoscelis neomexicanus). [PDF]

Genome Biol Evol
Ho DV, Odell A, Tormey D, Deimler N, Patterson V, Tsuchiya D, Klabacka RL, Schnittker RR, Baumann DP, Neaves WB, Barley AJ, Baumann P.   +11 more
europepmc   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, EarlyView.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

Eco‐Geography Reverses Dominant AMR Reservoirs in Klebsiella pneumoniae: Integron‐Rich Mobilomes and Cross‐Niche Connectivity

Advanced Science, EarlyView.
Dominant antimicrobial resistance reservoirs in Klebsiella pneumoniae vary across eco‐geographic settings rather than following a universal pattern. Integrated One Health and global genomic analyses show that lineage structure, integron load, and cross‐niche connectivity shape whether AMR burden accumulates primarily in human or nonhuman compartments ...
Hui Lin, Biao Tang, Hao Xu, Jiajie Qian, Feifan Shi, Junhui Zhao, Xiaorui Mao, Xiaohe Hu, Ruishan Liu, Wenhong Liu, Xiawei Jiang, Beiwen Zheng, Guoping Zhao   +12 more
wiley   +1 more source

Common variation in meiosis genes shapes human recombination and aneuploidy. [PDF]

Nature
Carioscia SA, Biddanda A, Starostik MR, Tang X, Hoffmann ER, Demko ZP, McCoy RC.   +6 more
europepmc   +1 more source

Dissecting Pirtobrutinib Resistance in Mantle Cell Lymphoma Through Single‐Cell Multi‐Omics

American Journal of Hematology, EarlyView.
ABSTRACT Pirtobrutinib (PBN), a non‐covalent BTK inhibitor, has been approved by the FDA for relapsed/refractory mantle cell lymphoma (MCL); however, resistance to PBN has been observed. To dissect the molecular dynamics driving PBN resistance, we performed integrative single‐cell multi‐omic profiling (scRNA‐seq, scATAC‐seq, and scDNA‐seq) on ...
Fangfang Yan, Yang Liu, Heng‐Huan Lee, Wei Wang, Joseph McIntosh, Yijing Li, Jovanny Vargas, Yue Fei, Sairah Ahmed, Lukas M. Simon, Michael Wang   +10 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Mitotic chromatin compaction tethers extrachromosomal DNA to chromosomes and prevents their mis-segregation into micronuclei. [PDF]

J Biol Chem
Yang LM.
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source