Results 111 to 120 of about 2,902,010 (219)

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

Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A. [PDF]

Blood Adv, 2023
Hiramoto T, Inaba H, Baatartsogt N, Kashiwakura Y, Hayakawa M, Kamoshita N, Nishimasu H, Nureki O, Kinai E, Ohmori T.   +9 more
europepmc   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report. [PDF]

Front Genet, 2023
Levchenko O, Filatova A, Mishina I, Antonenko A, Skoblov M.   +4 more
europepmc   +1 more source

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

, 2019
We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial exon/intronic fragment, as the likely cause of myopathy with cardiac involvement in female siblings. Both
Susan Brammah, Bryen, S.J., Evesson, F.J., Waddell, L.B., Ghaoui, R., Kritharides, L., Leigh B. Waddell, MacArthur, D.G., Min-Xia Wang, Alastair Corbett, Himanshu Joshi, Sandra T. Cooper, Joshi, H., Riley, L.G., Lisa G. Riley, Wang, M.X., Cooper, S.T., Brammah, S., Corbett, A., Frances J. Evesson, Beryl B. Cummings, Samantha J. Bryen, Daniel G. MacArthur, Cummings, B.B., Leonard Kritharides, Roula Ghaoui   +25 more
core   +1 more source

Isolating transdiagnostic effects reveals specific genetic profiles in psychiatric disorders

JCPP Advances, EarlyView.
Abstract Background Evidence indicates substantial genetic overlap between psychiatric diagnoses. Accounting for these transdiagnostic effects can sharpen research on disorder‐specific genetic architecture and patterns of comorbidity. Methods We applied genomic structural equation modeling to genome‐wide association study summary statistics from 11 ...
Engin Keser, Wangjingyi Liao, Andrea G. Allegrini, Kaili Rimfeld, Thalia C. Eley, Robert Plomin, Margherita Malanchini   +6 more
wiley   +1 more source

Shared genetics between ADHD and reading/language abilities: Genome‐wide correlations, stratified enrichment, cross‐trait association, and mendelian randomization

JCPP Advances, EarlyView.
Abstract Background Attention‐deficit/hyperactivity disorder (ADHD) and language/reading difficulties frequently co‐occur. The extent of shared genetic architecture remains incompletely defined. We investigated genome‐wide overlap between ADHD and four core skills: word reading, nonword reading, spelling, and phoneme awareness.
Jinzhu Zhao, Shi Huang, Wei Liu, Feng Wang, Hong Qian, Xiaolin Hu   +5 more
wiley   +1 more source

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. [PDF]

EMBO Mol Med, 2023
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B.   +20 more
europepmc   +1 more source

KAT8‐Low Osteosarcoma Suppresses Cisplatin Sensitivity via H4K16ac‐Mediated Cell Apoptosis

Med Research, EarlyView.
The scientific significance of this study is highlighted below: (1) Data mining and clinical discovery: These findings establish a direct clinical link between the KAT8–H4K16ac axis and chemotherapy response in osteosarcoma. (2) Multi‐omics and machine‐learning integration: We integrated proteomics and CUT&Tag multi‐omics to elucidate how chromatin ...
Zhenqun Zhao, Guohui Yu, Shikui Wu, Zhiyang Zhang, Keke Wang, Yingxin Xiong, Chao Sun, Haobo Cui, Yuxing Wang, Ziheng Wang, Huiru Zhang, Huiqin Xue, Shibing Guo   +12 more
wiley   +1 more source

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

, 2019
Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods.
Bakker, Sem, Weber, Bernhard H. F., Defoort, Sabine, Devos, Aurore, Neveling, Kornelia, Manders, Eline, Cornelis, Stéphanie S., Derks, Ronny, Meunier, Isabelle, Dhaenens, Claire‐Marie, Stöhr, Heidi, Grassmann, Felix, Cremers, Frans P. M., Khan, Muhammad Imran, Schulz, Heidi L., Gilissen, Christian, Vorst, Maartje, Khan, Mubeen, Elmelik, Duaa, Puech, Bernard   +19 more
core   +1 more source