Results 211 to 220 of about 5,172,195 (247)

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll. [PDF]

Invest Ophthalmol Vis Sci
Branham K, Samarakoon L, Audo I, Ayala AR, Cheetham JK, Daiger SP, Dhooge P, Duncan JL, Durham TA, Fahim AT, Huckfeldt RM, Hufnagel RB, Kohl S, Maldonado RS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Sallum JMF, Singh MS, Sharon D, Stepien K, Jones K, Weng CY, Foundation Fighting Blindness Clinical Consortium Investigator Group.   +24 more
europepmc   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in <b><i>RPE65</i></b>. [PDF]

Med Genet
Lorenz B.
europepmc   +1 more source

Deciphering transcriptome complexity via long‐read sequencing

iMeta, EarlyView.
Long‐read sequencing is transforming transcriptomics from gene‐level quantification to isoform‐resolved interpretation by directly resolving full‐length transcript structures, transcription in repetitive regions, and linked molecular features. This review provides an end‐to‐end roadmap covering sequencing platforms, library preparation strategies ...
Chuwen Xu, Jia Li, Chenxi Yin, Keying Li, Tian Wang, Shiwen Gao, Yue Yu, Cheng Chang, Ye Wang, Guoqing Tong, Liang Gong, Wen Hu, Guoliang Chai, Yilai Han, Qian Qin, Suoqin Jin, Xiufen Zou, Bo Li, Tianyuan Zhang, Ana Conesa, Yunhao Wang, Dingjie Wang   +21 more
wiley   +1 more source

Dissecting the angiogenic mechanism of pachychoroid polypoidal choroidal vasculopathy

iMeta, EarlyView.
A prognosis‐oriented classification system was established to distinguish Pachy PCV from Non‐pachy PCV using a large multicenter dataset. Comparative plasma multi‐omics profiling of Pachy PCV, Non‐pachy PCV, and normal controls revealed unique upregulation of the fluid shear stress and atherosclerosis (FSS‐AS) and HIF‐1 signaling pathways in Pachy PCV.
Xinyu Zhao, Tiantian Cheng, Wenfei Zhang, Xingwang Gu, Qing Zhao, Yaning Chen, Lihui Meng, Jiaqi Zhang, Bintao Qiu, Lili Li, Shiyu Cheng, Zicheng Wang, Chuting Wang, Yuelin Wang, Zuyi Yang, Zhengming Shi, Ye Guo, Shengzhi Liu, Youxin Chen   +18 more
wiley   +1 more source

The Endothelial CXCR Family in Vascular Health and Disease

iNew Medicine, EarlyView.
ABSTRACT Endothelial cells (ECs) form the dynamic interface between blood and tissue, serving as key regulators of vascular homeostasis, inflammation, and repair. Among the molecular systems governing endothelial behavior, the C‐X‐C motif chemokine receptor (CXCR) family—originally characterized in immunology for its roles in leukocyte trafficking and ...
Zhiming Wu, Yandi Wu, Suowen Xu, Yu Huang, Li Wang   +4 more
wiley   +1 more source

Bidirectional Pathological Axis Between Alzheimer's Disease and Circadian Rhythm Disturbance: Mechanisms and Therapeutic Strategies

iNew Medicine, EarlyView.
This graphical abstract illustrates a bidirectional vicious cycle between Alzheimer’s disease (AD) and circadian rhythm disturbance (CRD). On the one hand, AD pathology, including amyloid‐β (Aβ) plaque deposition and tau hyperphosphorylation, may damage the suprachiasmatic nucleus (SCN) and disrupt melatonin signaling, leading to sleep fragmentation ...
Jiajia Qin, Xianfeng Yu, Yayu Wang, Xiaohan Song, Yuehua Wang, Zhixin Wang, Wei Miao, Xudong Yang, Jiajia Zhu, Xiaoqun Zhu, Maria‐Trinidad Herrero   +10 more
wiley   +1 more source

Retinal vascular reactivity in carriers of X-linked inherited retinal disease - a study using optical coherence tomography angiography. [PDF]

Front Ophthalmol (Lausanne)
Gocuk SA, Hadoux X, Catipon C, Cichello E, Kumar H, Jolly JK, van Wijngaarden P, Llewelyn Edwards T, Ayton LN, Sousa DC.   +9 more
europepmc   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source