Traditional Chinese medicine (TCM) faces great challenges during the development of modern medicine. Utilizing novel technologies such as artificial intelligence (AI) and nanotechnology facilitates TCM with great potential in precision diagnosis and improved treatments efficacy.
Wenqi Yu +7 more
wiley +1 more source
What the fruit fly can tell us about autosomal recessive primary microcephaly. [PDF]
Chakraborty S, Florez S, Schoborg T.
europepmc +1 more source
Advanced Paternal Age Impacts Common Loci in the Sperm and Placenta DNA Methylomes
ABSTRACT Background Epidemiological studies have reported an association between advanced paternal age at conception and an increased risk of neurodevelopmental disorders in offspring, such as autism spectrum disorder. Evidence suggests that DNA methylation alterations in spermatozoa of older men may be transmitted to the feto‐placental unit and ...
Julia Barnwell +12 more
wiley +1 more source
First-trimester choroid plexus-to-head ratio: a novel sonographic marker for the early detection of fetal central nervous system malformations. [PDF]
Xue X, Tu P, Zhang X, Ran S, Zhang X.
europepmc +1 more source
White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini +14 more
wiley +1 more source
Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis. [PDF]
Kurup U +5 more
europepmc +1 more source
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova +3 more
wiley +1 more source
Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants. [PDF]
Yeter B +5 more
europepmc +1 more source

