Results 221 to 230 of about 48,210 (290)

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis. [PDF]

Genes (Basel)
Britten-Jones AC, Hickey DG, Edwards TL, Ayton LN.   +3 more
europepmc   +1 more source

From Data to Decisions: How Machine Learning and Generative Artificial Intelligence Are Redefining Precision Medicine in Kidney Transplantation

Organ Medicine, EarlyView.
This review evaluates how machine learning, multimodal integration, and generative AI optimize kidney transplant outcomes. These tools enable superior prediction and personalized therapy but face hurdles in data volume, generalizability, and ethics. Future clinical adoption depends on continued innovation and multidisciplinary collaboration to overcome
Maoxin Liao, Cheng Yang
wiley   +1 more source

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants. [PDF]

Br J Ophthalmol
Lähteenoja L, Ohtonen P, Falck A, Rahikkala EJ.   +3 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Diagnostic Accuracy of AI Models in Detecting Different Inherited Retinal Diseases: A Systematic Review and Meta-Analysis. [PDF]

Transl Vis Sci Technol
Ashrafi S, Ahmadieh H, Bayat K, Baghban AA, Azadi A, Shahriari MH, Sabbaghi H.   +6 more
europepmc   +1 more source

The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions

Pediatric Investigation, EarlyView.
Artificial intelligence (AI) offers transformative potential for paediatric diagnosis and treatment, yet implementation faces unique challenges, including data scarcity, algorithmic bias, and children's developmental physiology. This review examines current applications and charts a path toward transparent, equitable, and trustworthy AI in child health.
Ruisong Wang, Xiaoman Ding, Wanyue Zhang, Tieliu Shi   +3 more
wiley   +1 more source

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing. [PDF]

Med Genet
Stöhr H, Weber BHF.
europepmc   +1 more source

Current Insight into Human Ornithine Aminotransferase: A Review

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Human ornithine aminotransferase (hOAT) is a mitochondrial matrix pyridoxal‐5′‐phosphate enzyme (PLP) that catalyzes the reversible transfer of the δ‐amino group of L‐ornithine (L‐Orn) to α‐ketoglutarate (α‐KG) yielding glutamate‐5‐semialdehyde (GSA) and glutamate. GSA is prone to cyclize to Δ1‐pyrroline‐5‐carboxylate.
Fulvio Floriani, Carla Borri Voltattorni, Riccardo Montioli   +2 more
wiley   +1 more source

From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases. [PDF]

Diagnostics (Basel)
Parameswarappa DC, Kulkarni A, Sahoo NK, Padhy SK, Singh SR, Héon E, Chhablani J.   +6 more
europepmc   +1 more source

Mesenchymal stromal cell therapy for rheumatoid arthritis: Long‐term efficacy, safety, and mechanistic insights

Rheumatology &Autoimmunity, EarlyView.
Graphical abstract summarizing the multifactorial pathogenesis of rheumatoid arthritis (RA) and the therapeutic potential of mesenchymal stromal cell (MSC) therapy. MSCs provide promising benefits through their immunomodulatory properties, low immunogenicity, ability to promote tissue repair, and multi‐lineage differentiation, presenting a potential ...
Yingjia Chen, Ruiyu Gao, Xing Guo, Genhong Yao, Xiaojun Tang, Yile E. Liu, Lingyun Sun   +6 more
wiley   +1 more source