Results 91 to 100 of about 52,373 (299)

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

open access: yesAdvanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei   +12 more
wiley   +1 more source

Mechanism of tandem duplication formation in BRCA1-mutant cells.

open access: yes, 2017
Small, approximately 10-kilobase microhomology-mediated tandem duplications are abundant in the genomes of BRCA1-linked but not BRCA2-linked breast cancer. Here we define the mechanism underlying this rearrangement signature.
E. Paul Hasty   +19 more
core   +1 more source

Two Routes to Land: Genomic Underpinnings of Parallel Aerial Egg Deposition in Aquatic Old‐World Pila and New‐World Pomacea (Ampullariidae)

open access: yesAdvanced Science, EarlyView.
Comparative genomics of Gondwana‐diverged Pila and Pomacea reveals parallel evolution of aerial oviposition. Convergent chromosomal rearrangements reshape regulatory landscapes within topologically associating domains. Lineage‐specific gene family expansions and viral‐derived perivitelline proteins (PV1) underpin desiccation resistance.
Yufei Zhou   +10 more
wiley   +1 more source

Investigations of FLT3 internal tandem duplications in patients with acute myeloid leukaemia.

open access: yes, 2006
In acute myeloid leukaemia (AML), further prognostic determinants are required in addition to cytogenetics to predict patients at increased risk of relapse. Recent studies have indicated an internal tandem duplication (ITD) in the FLT3 gene may adversely
Kottaridis, P.D., Kottaridis, Panagiotis
core  

Generative AI‐Driven Accelerated Discovery of Passivation Molecules for Perovskite Solar Cells

open access: yesAdvanced Science, EarlyView.
A generative artificial intelligence (AI) framework combining a discriminative machine learning model (SMILES‐X) and a generative language model (GPT‐2) autonomously discovers new molecular passivators for perovskite solar cells (PSCs). Through an iterative design loop, over 100 000 candidates are generated and screened, and randomly selected molecules
Adroit T. N. Fajar   +7 more
wiley   +1 more source

CNV and nervous system diseases - what's new? [PDF]

open access: yes, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +1 more source

Harnessing MDM2‐Mediated Targeted Degradation of Transcriptional and Epigenetic Machinery to Disrupt Oncogenic Addictions in Pediatric Sarcoma

open access: yesAdvanced Science, EarlyView.
MDM2 dependency in pediatric sarcomas is driven by a novel p53‐independent oncogenic cistrome alongside canonical p53 pathway suppression. This study introduces MDM2‐recruiting transcriptional and epigenetic machinery degraders (MDM2‐TEMADs) as a novel precision oncology modality.
Jiawei Zhou   +21 more
wiley   +1 more source

ACLY‐Driven Metabolic Reprogramming Promotes Histone Acetylation and Inflammation‐Associated Fibrosis in Chronic Kidney Disease

open access: yesAdvanced Science, EarlyView.
This study reveals a citrate–ACLY–H3K27ac metabolic–epigenetic axis driving inflammatory gene activation and kidney fibrosis, highlighting ACLY inhibition as a potential therapeutic strategy for chronic kidney disease (CKD). ABSTRACT The mechanisms by which metabolic stress drives epigenetic dysregulation and fibrosis in chronic kidney disease (CKD ...
Chunxiu Du   +15 more
wiley   +1 more source

Duplication history of FLZ gene family.

open access: yes, 2015
TNG: Total number of genes, BD: Block duplicates, BDN: Block duplication, TD: Tandem duplicates, TDN: Tandem duplication, TD&BD: Tandem & block duplicates, TDN&BDN: Tandem & block duplication, ND: Non-duplicates, NDN: Non-duplicationDuplication history ...
Muhammed Jamsheer K (573388)   +3 more
core   +1 more source

Decoding the Mechanism of Action of a Parasite TGFβ Antagonist Inspires the Creation of Cell‐Type‐Specific TGFβ Modulators

open access: yesAdvanced Science, EarlyView.
The mammalian TGFβ interacts with ubiquitously expressed TGFBR1 and TGFBR2, and current TGFβ‐targeting agents are non‐cell‐selective. The cooperative interaction of the modular parasite TGFβ antagonist with multiple host (co‐)receptors empowers the design of TGM chimeras and bispecific antibodies that activate or inhibit TGFβ signaling in a cell ...
Maarten van Dinther   +13 more
wiley   +1 more source

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