Results 261 to 270 of about 730,667 (367)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Development of a single-nucleotide polymorphism panel genotyping system for genetic analysis of Chinese hamsters. [PDF]

Animal Model Exp Med
Sun M, Guo Y, Ren Z, Song A, Lu J, Li C, Lv J, Guo M, Liu X, Du X, Chen Z, Song G, He Y, Chen Z, Huo X.   +14 more
europepmc   +1 more source

Whole-genome single-nucleotide polymorphism (SNP) marker discovery and association analysis with the eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) content by Genotyping-By-Sequencing (GBS) in teleost Larimichthys crocea

, 2016
Shijun Xiao, Panpan Wang, Linsong Dong, Yaguang Zhang, Zhaofang Han, Qiurong Wang, Zhiyong Wang   +6 more
openalex   +1 more source

Comprehensive Screening of Gene Copy Number Aberrations in Formalin-Fixed, Paraffin-Embedded Solid Tumors Using Molecular Inversion Probe–Based Single-Nucleotide Polymorphism Array [PDF]

, 2016
Rajesh R. Singh, Meenakshi Mehrotra, Hui Chen, Alaa A. Almohammedsalim, Ayesagul Sahin, Alex Bosamra, Keyur P. Patel, Mark J. Routbort, Xinyan Lu, Ronald Abraham, Bal M. Mishra, Shumaila Virani, L. Jeffrey Medeiros, Rajyalakshmi Luthra   +13 more
openalex   +1 more source

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

ESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu, Gui‐Qin Liu, Ya‐Ping Peng, Li‐Ling Zhang, Xian‐Jin Wang, Liang‐Chuan Chen, Yuan‐Xi Zheng, Xue‐Jun Xiang, Rui Qiao, Xian‐He Lin   +9 more
wiley   +1 more source

Analysis of runs of homozygosity in Yeonsan Ogye chickens using 600K single nucleotide polymorphism arrays. [PDF]

J Anim Sci Technol
Kim J, Kim M, Cho E, Lee SS, Kim S, Jin D, Lee JH.   +6 more
europepmc   +1 more source

The role of histone modification and a regulatory single-nucleotide polymorphism (rs2071166) in the Cx43 promoter in patients with TOF [PDF]

, 2017
Ruoyi Gu, Jun Xu, Yixiang Lin, Sheng Wei, Duan Ma, Xiaojing Ma, Guoying Huang   +6 more
openalex   +1 more source

Early diagnostic value of novel biomarkers for breast cancer therapy‐related cardiac dysfunction

ESC Heart Failure, EarlyView.
Our meta‐analysis revealed significant post‐treatment increases in GDF‐15, CRP, MPO, and PLGF levels (Gal‐3 unchanged) among breast cancer patients. Only elevated MPO levels were significantly associated with an increased risk of cancer therapy‐related cardiac dysfunction (CTRCD).
Zhengwei Wang, Yujuan Wu, Jingyi He, Diansa Gao, Zhong Zuo   +4 more
wiley   +1 more source

Association of <i>FAM13A</i> single-nucleotide polymorphism with spirometry indices and pulmonary ventilation characteristics in patients with chronic obstructive pulmonary disease. [PDF]

J Int Med Res
Nguyen BH, Tran NTC, Ho CQ, Tran TTT, Phan HN, Tran V, Pham NTN, Nguyen KT, Pham KH.   +8 more
europepmc   +1 more source