SATB2‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental
disorder caused by alterations in the SATB2 gene. Here we present a review of published …

Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung
developmental disorder caused by heterozygous point mutations or genomic deletion copy-…

Four species of the genus Flaveria, namely F. anomala, F. linearis, F. pubescens, and F.
ramosissima, were identified as intermediate C 3 -C 4 plants based on leaf anatomy, …

Identification of over 500 epigenetic regulators in humans raises an interesting question
regarding how chromatin dysregulation contributes to different diseases. Bromodomain and …

Several aspects of photosynthetic adaptation to temperature were examined in four graminoid
species from the Colorado shortgrass steppe. The experimental species were chosen to …

Ubiquitination is a posttranslational modification that regulates many cellular processes
including protein degradation, intracellular trafficking, cell signaling, and protein-protein …

SON is a key component of the spliceosomal complex and a critical mediator of constitutive
and alternative splicing. Additionally, SON has been shown to influence cell-cycle …

Next-generation sequencing is a powerful tool for the discovery of genes related to
neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due …

Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum
with megacystis‐microcolon intestinal hypoperistalsis syndrome and chronic intestinal …