Results 131 to 140 of about 368,665 (261)

P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders

Genetics in Medicine Open
Babi Ramesh Reddy Nallamilli, Jagannathan Lakshmanan, Vinish Ramachander, Supan Dhillon, Ruby Liu, Yinghong Pan, Naga Guruju, Christin Collins, Lora Bean, Madhuri Hegde   +9 more
doaj   +1 more source

Pasta, a Versatile Transcriptomic Clock, Maps the Chemical and Genetic Determinants of Aging and Rejuvenation

Advanced Science, EarlyView.
Pasta is a transcriptomic aging clock built on an age‐shift learning framework and trained on 17 000 samples across 21 datasets. It accurately predicts relative biological age across tissues, platforms, and species, captures stemness‐to‐senescence transitions, and identifies age‐modulatory perturbations.
Jérôme Salignon, Maria Tsiokou, Patricia Marqués, Enriqueta Rodríguez‐Diaz, Hazel Ang, Federico Pietrocola, Christian G. Riedel   +6 more
wiley   +1 more source

P053: Understanding the measurement of nicotinamide adenine dinucleotide (NAD+) from dried blood spots through a population study

Genetics in Medicine Open
Sara Smith, Madeline Ellgass, Ariana Park, Alexah Kaib, Haley Lindberg, Christopher Burns, Taraka Donti, P.J. Borandi, Madhuri Hegde   +8 more
doaj   +1 more source

Integrated Single‐Nucleus Multi‐Omics Atlases Reveal Lineage Plasticity and Regulatory Networks of Luminal Epithelial Cells During Mammary Gland Lactation and Involution

Advanced Science, EarlyView.
This study integrates single‐cell multi‐omics, spatial transcriptomics, and cross‐species comparative analyses to systematically characterize the cellular composition and differentiation trajectories of goat mammary epithelial cells, along with the gene regulatory networks and intercellular communication mechanisms governing these trajectories, thereby
Xiaoru Yan, Xiaoyu Mi, Guanghui Tan, Xinmei Li, Zhenliang Zhu, Zhenyu Wei, Huimei Fan, Yamei Wu, Tao Shi, Lingzhao Fang, Yuanpeng Gao, Yu Wang, Jun Liu   +12 more
wiley   +1 more source

P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients

Genetics in Medicine Open
Babi Ramesh Reddy Nallamilli, Mary Colasanto, Sreyanth Chandra Parupalli, Ruby Liu, Lakshmanan Jagannathan, Arul Joseph Duraisamy, Vinish Ramachander, Supan Dhillon, Madhuri Hegde   +8 more
doaj   +1 more source

Methods for Integrating Multi-omics Data: Mathematical Aspects.

, 2014
Recently, there has been a growing interest in methods that involve integrated analysis of multi-omics data. Deducing a valuable biological or medical meaning from a multi-omics dataset is a non-trivial problem and, thus, the integrated analysis of these
Ettore Mosca, Gastone Castellani, Luciano Milanesi, Matteo Bersanelli   +3 more
core  

The IRE1‐XBP1s Axis Drives Inflammatory Osteolysis by Regulating a 5‐HT Dependent Endogenous Anti‐Autophagy Mechanism

Advanced Science, EarlyView.
A previously unrecognized IRE1‐XBP1s‐Slc6a4 signaling axis links endoplasmic reticulum stress to serotonin metabolism, autophagy, and inflammatory osteoclastogenesis. By promoting intracellular serotonin uptake and reducing endogenous 3‐methyladenine accumulation, this pathway accelerates inflammatory bone destruction and provides a promising ...
Pengchao Yang, Binxiang Zhu, Yuzhi He, Yang Tian, Honglei Kang, Shian Hu, Pengju Wang, Yong Xu, Zhuowei Lei, Peijun Qi, Hao Yang, Yang Lin, Yimin Dong, Feng Li, Hanfeng Guan   +14 more
wiley   +1 more source

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

Genetics in Medicine Open
Ruby Liu, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Madhuri Hegde   +4 more
doaj   +1 more source

Super‐Multiplexed Label‐Free Raman Imaging Uncovers Novel Testicular Metabolic Couplings for Residual Body and Spermatogonial Differentiation

Advanced Science, EarlyView.
Super‐multiplexed Label‐free Raman Imaging (SLRI) enables 2D/3D metabolic mapping of intact Drosophila testes. Moving beyond descriptive morphology, it establishes a multidimensional tool for tissue metabolic remodeling, and offers a generalizable platform for complex tissue analysis, with implications extending to development and disease. ABSTRACT The
Jiaxin Li, Xia Chen, Yujuan Qi, Chen Qiao, Qiuru Huang, Dan Zhao, Weiyi Qian, Li Di, Yi Shi, Xiangqi Hu, Yueyue Shao, Kehan Wang, Zhiyu Tang‐Yang, Hanzhi Zang, Yuwen Du, Anran Dong, Jinxiong Feng, Jiayun Chen, Ying Zheng, Xiaofang Tan, Xiaoyu Zhao, Zhonghua Shi, Bo Zheng, Jun Yu   +23 more
wiley   +1 more source

P649: The clinical utility of genome sequencing in the molecular diagnosis of genes related to inborn errors of metabolism

Genetics in Medicine Open
Xiangwen Chen-Deutsch, Mary Colasanto, Cristina da Silva, Christin Collins, Madhuri Hegde   +4 more
doaj   +1 more source