Results 231 to 240 of about 319,093 (308)

TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome. [PDF]

Eur J Hum Genet
Durmaz CD, Güleray Lafcı N, Erkan DD, Akçin ÖÇ, Bulut N, Kuş F, Ateş Özdemir D, Neesen J, Dremsek P, Dizdar Ö.   +9 more
europepmc   +1 more source

T cells, the next big target in axSpA?

Arthritis &Rheumatology, Accepted Article.
Axial spondyloarthritis (axSpA) is a chronic inflammatory disease characterized by complex immune dysregulation, with T cells playing a central role in its pathogenesis. In this review we synthesize current knowledge on diverse T cell subsets in axSpA, their pathogenic mechanisms, and emerging therapeutic strategies targeting these cells.
Mansi K. Aparnathi, Nigil Haroon
wiley   +1 more source

Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant. [PDF]

Fam Cancer
Ragnarsson KA, Garcia G, Jonasson JG, Arnadottir GA, Reykdal SE, Arngrimsson R, Haraldsdottir S, Jonsson JJ.   +7 more
europepmc   +1 more source

‘SOMS BrainSpace’: A digital serious game for undergraduate neuroscience

Anatomical Sciences Education, EarlyView.
Abstract Neuroanatomy is challenging for many undergraduates, requiring strong visuospatial skills and a deep understanding of complex concepts. This study developed and evaluated SOMS BrainSpace, a digital serious game for neuroanatomy education, using a mixed methods approach.
Anthony Tran, Jin Y. Huang, Craig R. Campbell, Elizabeth M. Hegedus   +3 more
wiley   +1 more source

Developing a critical caste analysis within information science and technology: A research review: An annual review of information science and technology paper

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Caste—an ascriptive social hierarchy in South Asia and its diaspora—is a globalized phenomenon. Recent caste‐based discrimination, particularly in technology companies and anti‐caste efforts to address it, has compelled academia, policy, and the technology industry to better understand contemporary mechanics of caste.
Nayana Kirasur, Britt Paris
wiley   +1 more source

Prenatal famine exposure restricts genetic effects on birth weight with implications for metabolic disease risk. [PDF]

Commun Med (Lond)
Taeubert MJ, van den Kieboom K, Zhou J, Kuipers TB, Conley DC, Li C, Wang S, Wang T, Belsky DW, Lumey LH, Heijmans BT.   +10 more
europepmc   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Identification of Genetic Variants Among Breast Cancer Patients and At-Risk Individuals: A Cohort Study in Sri Lanka. [PDF]

Breast Cancer (Auckl)
Yatawara L, Hewavithana B, Ramanayake AP, Wickramasinghe S, Amarasiri M.   +4 more
europepmc   +1 more source

The Role of Microbiota Metabolites Propionic Acid, p‐Cresol, and 4‐Ethylphenyl Sulfate in Autism Susceptibility: A Systematic Review

Autism Research, EarlyView.
ABSTRACT The etiopathogenesis of Autism Spectrum Disorder (ASD) encompasses complex interactions between genetic and environmental risk factors. The high prevalence of gastrointestinal disorders in autistic individuals has propelled a growing interest in the possible involvement of gut dysbiosis in ASD pathogenesis.
Laura Sandoni, Lisa Asta, Nicole Giompaolo, Rinvil Renaldi, Alberto Amaretti, Maddalena Rossi, Antonio M. Persico   +6 more
wiley   +1 more source

Interaction between genetic predisposition to successful ageing and chronic air pollution on lung disease in elderly women: results of the German SALIA cohort. [PDF]

BMJ Open Respir Res
Kress S, Lau M, Wigmann C, Abramson MJ, Schwender H, Schikowski T.   +5 more
europepmc   +1 more source