Results 141 to 150 of about 21,579,379 (182)

Genome-wide association and multi-omics analyses provide insights into the disease mechanisms of central serous chorioretinopathy

Scientific Reports
Central serous chorioretinopathy (CSC) is a major cause of vision loss, especially in middle-aged men, and its chronic subtype can lead to legal blindness. Despite its clinical importance, the underlying mechanisms of CSC need further clarification.
Yuki Mori, Elon H. C. van Dijk, Masahiro Miyake, Yoshikatsu Hosoda, Anneke I. den Hollander, Suzanne Yzer, Akiko Miki, Li Jia Chen, Jeeyun Ahn, Ayako Takahashi, Kazuya Morino, Shin-ya Nakao, Carel B. Hoyng, Danny S. C. Ng, Ling-Ping Cen, Haoyu Chen, Tsz Kin Ng, Chi Pui Pang, Kwangsic Joo, Takehiro Sato, Yasuhiko Sakata, Atsushi Tajima, Yasuharu Tabara, The Nagahama Study Group, Kyu Hyung Park, Fumihiko Matsuda, Kenji Yamashiro, Shigeru Honda, Masao Nagasaki, Camiel J. F. Boon, Akitaka Tsujikawa   +30 more
doaj   +1 more source

Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The Val122Ile ATTR Amyloidosis has traditionally been linked to cardiac manifestations. Recent studies suggest that neuropathy may be relevant. In this study, we characterized its peripheral nerve manifestations in depth. Methods This was a national, multicenter, observational, retrospective study.
Anna Paula Paranhos, Marcela Câmara Machado Costa, Carolina Lavigne Moreira, Diogo Fernandes dos Santos, Marcondes Cavalcante França, Renan Flavio de França Nunes, Osvaldo José Moreira do Nascimento, Jemima Araujo da Silva Batista, Eduardo Boiteux Uchôa Cavalcanti, Cleonisio Leite Rodrigues, Ândrea Virgínia Ferreira Chaves, Marcelo Soares Kerstenetzky, Lara Albuquerque de Brito, Carlo Domênico Marrone, Marcus Vinicius Magno Gonçalves, Pedro José Tomaselli, Wilson Marques   +16 more
wiley   +1 more source

Unveiling the Immune Mechanisms of Hypertension With Single‐Cell Transcriptome‐Wide Mendelian Randomization

The FASEB Journal, Volume 40, Issue 16, 31 August 2026.
This study integrates expression quantitative trait loci data across 14 immune cell subsets with Mendelian randomization and colocalization to uncover 17 eGenes causally associated with hypertension in a cell type‐specific manner, prioritizes three eGenes (DDX5, VIM, and CTSW) with cell type‐specific differential expression levels between hypertensive ...
Yukang Mao, Peng Li, Chen Cheng, Xiangqing Kong, Wei Sun, Tingting Wu   +5 more
wiley   +1 more source

CoPheScan: phenome-wide association studies accounting for linkage disequilibrium

, 2023
Manipur I, Reales G, Sul JH, Shin MK, Longerich S, Cortes A, Wallace C.   +6 more
europepmc   +1 more source

N-Lactoyl amino acids: insights from metabolite genome-wide association studies and phenome-wide association analysis

N-lactoyl-amino acids (Lac-AA) are emerging as important metabolites with diverse physiological roles. This study integrates metabolomics and genomics to investigate the genetic determinants and clinical relevance of three Lac-AA: N-Lactoyl phenylalanine
Alshafai, Mashael, Razzaq, Aleem, Elrayess, Mohamed A., Naja, Khaled, Elashi, Asma A, Diboun, Ilhame, Albagha, Omar, Anwardeen, Najeha, Elrayess, Mohamed A, Elashi, Asma A.   +9 more
core   +1 more source

PolyGenie: a reproducible Nextflow pipeline for phenome-wide association studies using polygenic risk scores. [PDF]

NAR Genom Bioinform
Farré X, Gasco M, Blay N, de Cid R.
europepmc   +1 more source

SAIGE-GPU: accelerating genome- and phenome-wide association studies using GPUs. [PDF]

Bioinformatics
Rodriguez A, Kim Y, Nandi TN, Keat K, Kumar R, Conery M, Bhukar R, Liu M, Hessington J, Maheshwari K, VA Million Veteran Program, Begoli E, Tourassi G, Muralidhar S, Natarajan P, Voight BF, Cho K, Gaziano JM, Damrauer SM, Liao KP, Zhou W, Huffman JE, Verma A, Madduri RK.   +23 more
europepmc   +1 more source

DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies

, 2022
Packer R, Williams A, Hennah W, Eisenberg M, Fawcett K, Pearson W, Guyatt A, Edris A, Hollox E, Rao B, Bratty J, Wain L, Dudbridge F, Tobin M.   +13 more
europepmc   +1 more source

Current Scope and Challenges in Phenome-Wide Association Studies. [PDF]

Curr Epidemiol Rep, 2017
Verma A, Ritchie MD.
europepmc   +1 more source

Unbiased Phenome-Wide Association Studies of Red Cell Distribution Width Identifies Key Associations with Pulmonary Hypertension. [PDF]

Ann Am Thorac Soc, 2019
Thayer TE, Huang S, Levinson RT, Farber-Eger E, Assad TR, Huston JH, Mosley JD, Wells QS, Brittain EL.   +8 more
europepmc   +1 more source