The pathological alterations that manifest during the early embryonic development due to
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …

Genetic research in Autism Spectrum Disorder (ASD) has progressed tremendously in
recent decades. Dozens of genetic loci and hundreds of alterations in the genetic sequence …

Age-related macular disease (AMD) is a major cause of blindness and there is little
treatment currently available by which the progress of the basic disorder can be modulated …

Abstract Ethnopharmacological relevance Sheng-ji Hua-yu (SJHY) formula is a traditional
Chinese herbal which is effective in treating diabetic ulcers. It has been indicated to …

Lowe Syndrome (LS) is a rare X-linked disorder characterized by renal dysfunction,
cataracts, and several central nervous system (CNS) anomalies. The mechanisms …

Cockayne syndrome (CS) is a rare hereditary autosomal recessive disorder primarily
caused by mutations in Cockayne syndrome protein A (CSA) or B (CSB). While many of the …

Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the
amount of mRNA or protein product produced by a gene or by production of a gene product …

Amyloid plaques, a major pathological hallmark of Alzheimer's disease (AD), are caused by
an imbalance between the amyloidogenic and non‐amyloidogenic pathways of amyloid …

Introduction Cataract is the leading cause of blindness among the elderly worldwide. Twin
and family studies support an important role for genetic factors in cataract susceptibility with …

Background Lowe syndrome (LS) is an X linked disease caused by pathogenic variants in
the OCRL gene that impacts approximately 1 in 500 000 children. Classic features include …