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Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.
Biol Psychiatry
October 2024
Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Melbourne, Victoria, Australia; St. Vincent's Institute of Medical Research, Melbourne, Victoria, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia. Electronic address:
Article Synopsis
- The causes of autism spectrum disorder (ASD) are not fully understood, but over 1,000 rare genetic variations are linked to the condition, complicating the search for common biological targets for therapy.
- CAMK4, a gene encoding an enzyme critical for brain development and function, has emerged as a potential risk gene for ASD, particularly in connection to certain genetic variants related to hyperkinetic movement disorders.
- The review emphasizes that defects in the CaMK4 signaling pathway may play a significant role in ASD pathogenesis, suggesting it as a promising target for future therapeutic interventions.
Missing in Plain Sight No More? Copy Number Variation in Monogenic Kidney Disease.
Kidney Int Rep
October 2024
Department of Renal Medicine, Townsville University Hospital, Douglas, Queensland, Australia.
[CFTR gene variant screening in gamete donation candidates in France: Which indications? How to screen? Why?].
Gynecol Obstet Fertil Senol
January 2025
Service de biologie de la reproduction-CECOS, CHU de Bordeaux, Bordeaux, France; Bordeaux Institute in Oncology - BRIC - équipe BioGo, Inserm U1312, université de Bordeaux, Bordeaux, France.
Objectives: According to French recommendations, only the caryotype is carried out as a first line in candidates for gamete donation. The prescription of additional genetic tests for variants responsible for serious monogenic diseases is only recommended in the case of call points. However, cystic fibrosis remains the most common genetic disease with serious consequences in childhood.
View Article and Find Full Text PDFResponse to Wynn and Hokovec Regarding "The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use".
Prenat Diagn
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Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.
Correspondence on "Current Controversy in Prenatal Diagnosis: The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use".
Prenat Diagn
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Medical Affairs, BillionToOne, Inc, Menlo Park, California, USA.
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