Results 151 to 160 of about 41,126 (213)

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, Volume 13, Issue 36, 29 June 2026.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Assessing modifiable risk factors for atrial fibrillation/flutter in the young: a hybrid local-global study. [PDF]

Front Endocrinol (Lausanne)
Liu Y, Liu L, Zhou Q, Liu Y, Song J.
europepmc   +1 more source

TopCas: Topology‐Gated Cas12a via DNA‐RNA Chimeric Circular crRNA for Amplification‐Free Nucleic Acid Detection and Conditional Gene Editing

Advanced Science, Volume 13, Issue 33, 15 June 2026.
The TopCas platform utilizes an engineered DNA‐RNA chimeric circular crRNA to establish topology‐gated control over CRISPR‐Cas12a activity, enabling target‐triggered self‐catalytic amplification (preamplification‐free). This system seamlessly integrates highly sensitive molecular diagnostics with conditionally controlled gene editing, demonstrating ...
Shun Zhang, Wen Sun, Ting Xiao, Yali Wang, Xianlan Wu, Huiyou Chen, Ming Chen, Jun Zhang   +7 more
wiley   +1 more source

Effect of Mandatory Bicycle Helmet Legislation on Helmet Use and Injury Outcomes: A Propensity Score-Matched Analysis Using Decision Tree and Segmented Regression. [PDF]

J Clin Med
Park H, Kim M, Lee DS, Hong TH, Kim DH, Cho H.   +5 more
europepmc   +1 more source

SDS‐CRISPR for Single‐Nucleotide Variant Detection

Advanced Science, Volume 13, Issue 36, 29 June 2026.
Structure‐disruption‐sensitive CRISPR (SDS‐CRISPR) converts structural instability into single‐nucleotide precision, thereby overcoming mismatch tolerance in canonical Cas12a and enabling versatile diagnostics across DNA, RNA, and microRNA targets. When applied to rapid IDH1 mutation detection for glioma genotyping and integrated with lateral‐flow ...
Xin Guan, Chong Guo, Jiongyu Zhang, Rui Yang, Yerramsetti Ramachandra, Chengyu Hou, Minjie Pei, Shuo Zhang, Kurt T. Schalper, Xingye Liu, Qian Wu, Ketan R. Bulsara, Changchun Liu   +12 more
wiley   +1 more source

Flexible and rapid validation of structural variation using adaptive sampling. [PDF]

Eur J Hum Genet
Paivandy A, Lenner F, Eisfeldt J, Jonson T, Ehrencrona H, Lindstrand A, Scherer SW, Feuk L.   +7 more
europepmc   +1 more source

Association of the Disheveled 2 (DVL2) Gene c.2044delC Variant with Increased Risk of Canine Cleft Palate

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT Canine congenital cleft palate is one of the most common craniofacial anomalies in dogs, characterized by a failure of the palatal shelves to fuse properly during fetal development, leading to abnormal communication between the oral and nasopharyngeal cavities.
Jonas Donner, Marjo Hytönen, Jamie Freyer, Hannes Lohi, Rebecca Chodroff Foran, Oliver P. Forman   +5 more
wiley   +1 more source

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing. [PDF]

Hum Genomics
Fauqueux J, Caumes R, Colson C, Trauffler A, Cleuziou P, Thuillier C, Planté-Bordeneuve P, Tessarech M, Ghoumid J, Smol T.   +9 more
europepmc   +1 more source

Vulnerability of the locus coeruleus–entorhinal cortex white matter tract in autosomal dominant Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION Locus coeruleus (LC) structural integrity declines early in sporadic and autosomal dominant Alzheimer's disease (AD). We examined LC–entorhinal cortex (LC‐EC) tract integrity and its association with amyloid and tau pathology and memory in autosomal dominant AD (ADAD).
Elouise A. Koops, Averi Giudicessi, Ana Baena, Lusiana Martinez, Nikole Bonillas‐Felix, Randy Medrano, Joyita Dutta, Isabela Gonzalez, Sergio Alvarez, David Aguillon, Yakeel T. Quiroz, Heidi I. L. Jacobs   +11 more
wiley   +1 more source

Recent advances in the detection technologies for balanced chromosomal rearrangements. [PDF]

Front Genet
Gao M, Ren J, Liu S.
europepmc   +1 more source