Results 151 to 160 of about 38,693 (276)

High-resolution optical genome mapping unveils gene disruptions in a reciprocal chromosomal translocation and severe male infertility: a case report

Purpose: This case report describes a 36-year-old male with primary infertility, associated with a balanced reciprocal translocation between chromosomes 1 and 7.
Miron, Pierre, Fotopoulos, Nellie, Bélanger, Marie-Claire, Jedraszak, Guillaume, Montjean, Debbie, Petrella, Francis, Godin Pagé, Marie-Hélène, Fetni, Raouf, Darwiche, Walaa, Benkhalifa, Moncef   +9 more
core   +1 more source

Detection of a complex chromosomal rearrangement in a novel mouse mutant by optical genome mapping. [PDF]

Mamm Genome
Holtgrefe G, Wight PA.
europepmc   +1 more source

Full‐Body AI Agent: A Perspective on Multi‐Scale Collaborative AI for Systemic Biology and Precision Medicine

Advanced Science, EarlyView.
We propose the Full‐Body AI Agent, a multi‐scale collaborative framework with 7 biological‐layer agents. It unifies multi‐omics/clinical data via standardized protocols, enabling phenotype‐guided closed‐loop reasoning, quantitative evaluation, and LLM safeguards, with promising applications in tumor metastasis modeling and precision drug development ...
Aoqi Wang, Jiajia Liu, Jianguo Wen, Yangyang Luo, Zhiwei Fan, Liren Yang, Xi Hu, Ruihan Luo, Yankai Yu, Sophia Li, Weiling Zhao, Xiaobo Zhou   +11 more
wiley   +1 more source

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema. [PDF]

J Clin Immunol
Batlle-Masó L, Neveling K, Gil-Serrano J, Kamping E, den Ouden A, Timmermans R, Bruch-Tàrrega A, Aguiló-Cucurull A, Perurena-Prieto J, Fernández-Álvarez P, Steehouwer M, Hoischen A, Guilarte M, Colobran R.   +13 more
europepmc   +1 more source

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

Advanced Science, EarlyView.
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

Optical genome mapping detects cryptic high-risk and targetable abnormalities in adult AML. [PDF]

Br J Haematol
Bidet A, Laharanne E, Dos Santos M, De Grande AC, Leguay T, Pigneux A, Frison E, Achard S, Dupont-Moufakkir S, Klein E, Dumas PY.   +10 more
europepmc   +1 more source

An Activity‐Dependent NEPAS–PTX3 Axis Links Neurovascular and Myelin Deficits to Cognitive Impairment

Advanced Science, EarlyView.
An activity‐dependent pathway links prefrontal circuit hypoactivity to cognitive impairment. Reduced PVA–mPFC activity upregulates NEPAS, which suppresses PTX3 secretion, leading to impaired angiogenesis, myelin deficits, and memory decline. Rescue is achieved by NEPAS knockdown or chemogenetic circuit activation.
Boya Hu, Zifei Chen, Bingmei Sun, Jiale Gao, Jiale Xu, Xiaochun Guo, Fenfei Gao, Zhongsi Wang, Jie Wu, Xiaoyu Ji, Peipei Liu, Bing Huang   +11 more
wiley   +1 more source

Pharmacologic Modulation of ARID3A with Rimegepant Reactivates Type I Interferon Signaling and Sensitizes Triple‐Negative Breast Cancer to PD‐1 Blockade

Advanced Science, EarlyView.
This study identifies ARID3A as a key immunosuppressive transcription factor in TNBC. Its inhibition activates the type I IFN pathway, boosting CD8+ T cell infiltration and sensitizing tumors to anti‐PD‐1. The FDA‐approved migraine drug Rimegepant targets ARID3A, enhances immunotherapy efficacy in preclinical models, and establishes a druggable axis to
Teng Zhou, Yifei Zhu, Cheng Zeng, Jinlu Han, Huiying Huang, Doudou Li, Mingxi Lin, Yizi Jin, Qin Guo, Yuxin Yan, Xinhui Mao, Yifei Zhou, Jian Zhang   +12 more
wiley   +1 more source

Translational genomics from model species Medicago truncatula to crop legume Trifolium pratense

, 2012
The legume Trifolium pratense (red clover) is an important fodder crop and produces important secondary metabolites. This makes red clover an interesting species.
Lang Chunting, Chunting
core  

Dam Assisted Fluorescent Tagging of Chromatin Accessibility (DAFCA) for Optical Genome Mapping in Nanochannel Arrays

Proteins and enzymes in the cell nucleus require physical access to their DNA target sites in order to perform genomic tasks such as gene activation and transcription.
Assaf Grunwald (1982044), Elmar Weinhold (2453569), Hagai Har-Gil (5676278), Elad Roichman (15425145), Gil Nifker (4247692), Zuzana Tulpova (15425139), Noy Maimon (15425142), Yuval Ebenstein (1799533), Leonie Schütz (15425148), Sapir Margalit (9098371), Yael Michaeli (1799674)   +10 more
core   +1 more source