Results 191 to 200 of about 104,643 (290)

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis. [PDF]

Rev Esp Quimioter
Muñoz-Echeverria L, Sánchez-Cano JG, Losa-García JE.   +2 more
europepmc   +1 more source

Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats

Animal Models and Experimental Medicine, EarlyView.
Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček, Pavol Boďo, Barbora Kaločayová, Marta Šoltésová Prnová   +3 more
wiley   +1 more source

Prevalence and severity of persistent pulmonary hypertension of the newborns among asphyxiated neonates admitted in Enugu State University Teaching Hospital. [PDF]

BMJ Paediatr Open
Okechukwu A, Odetunde O, Uchenna E, Chinawa JM.   +3 more
europepmc   +1 more source

Liver transplantation under cyclosporine: a decade of experience. [PDF]

, 1991
Fung, JJ, Gordon, RD, Iwatsuki, S, Starzl, TE, Staschak, SM, Stieber, A, Todo, S, Tzakis, AG   +7 more
core  

Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1‐mediated P53 ubiquitination

Animal Models and Experimental Medicine, EarlyView.
Based on a dermis fibroblast Gorab knockout mouse model, this study revealed that Gorab deficiency promotes skin aging by influencing RCHY1, causing a decrease in P53 ubiquitination, damaging the activity of HDAC2, further resulting in the accumulation of aging‐related proteins (P53, P21, P16) and a reduction in extracellular matrix (ECM) components ...
Yanhong Li, Wei Liang, Yanfeng Xu, Yunlin Han, Wenjie Zhao, Siyuan Wang, Wei Deng, Chuan Qin   +7 more
wiley   +1 more source

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program. [PDF]

J Clin Immunol
Graafen L, Speckmann C, Bakhtiar S, Bernuth HV, Lehmberg K, Bader P, Baumann U, Beier R, Borte S, Brockow I, Davies EG, Hartmann M, Holzer U, Klemann C, Kreins AY, Krüger R, Kontny U, Laws HJ, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Schneider DT, Willasch A, Worth A, Seidel MG, Albert MH, Ehl S, Hauck F, Hönig M, Schulz A, Schuetz C, Ghosh S.   +32 more
europepmc   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source

Impaired mucosal IgA response to SARS-CoV-2 in patients with inborn errors of immunity. [PDF]

Front Immunol
Zuo F, Delavari S, Shokri S, Wang Y, Abolnezhadian F, Iranparast S, Salami F, Sharafian S, Chavoshzadeh Z, Rezaei N, Abolhassani H.   +10 more
europepmc   +1 more source