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Juvenile polyposis syndrome (JPS) is an inherited autosomal dominant condition that predisposes to the development of juvenile polyps throughout the gastrointestinal (GI) tract, and it poses an increased risk of GI malignancy. Germline causative variants were identified in the SMAD4 gene in a subset (20%) of JPS cases. Most SMAD4 germline genetic variants published to date are missense, nonsense, and frameshift mutations. SMAD4 germline alterations predicted to result in aberrant splicing have rarely been reported. Here, we report two unrelated Italian families harboring two different SMAD4 intronic variants, c.424+5G>A and c.425-9A>G, which are clinically associated with colorectal cancer and/or juvenile GI polyps. In silico prediction analysis, in vitro minigene assays, and RT-PCR showed that the identified variants lead to aberrant SMAD4 splicing via the exonization of intronic nucleotides, resulting in a premature stop codon. This is expected to cause the production of a truncated protein. This study expands the landscape of SMAD4 germline genetic variants associated with GI polyposis and/or cancer. Moreover, it emphasizes the importance of the functional characterization of SMAD4 splicing variants through RNA analysis, which can provide new insights into genetic disease variant interpretation, enabling tailored genetic counseling, management, and surveillance of patients with GI polyposis and/or cancer.

Acclaimed science writer Tom Hager brings Pauling's wide range of scientific accomplishments vividly to life while also shedding light on Pauling's activities outside the scientific realm. He shows how Pauling used his popularity to advance political causes, particularly his opposition to the spread of nuclear weapons during the 1950s.

Color surrounds us: the lush green hues of trees and grasses, the variant blues of water and the sky, the bright pops of yellow and red from flowers. But at the same time, color lies at the limits of language and understanding. In this absorbing sequel to Chromophobia —which addresses the extremes of love and loathing provoked by color since antiquity—David Batchelor charts color's more ambiguous terrain. The Luminous and the Grey explores the places where color comes into being and where it fades away, probing when it begins and when it ends both in the imagination and in the material world. Batchelor draws on neuroscience, philosophy, novels, films, and artists' writings—as well as his own experience as an artist working with color—to understand how we see and use colors. He considers the role of color in creation myths, industrial chemistry, and optics, and examines the particular forms of luminosity that saturate the modern city. Following this inquiry into the hues that we face every day, he turns to one that is both color and noncolor: grey itself, which he reveals is as much a mood, feeling, and existential condition as a shade that we experience with our eyes. Deftly argued, always thought-provoking, and ever entertaining, The Luminous and the Grey is a beautiful study of how we see and feel our multicolored world.

Not only do we still get to enjoy the emotional support of parents and other family members, we can count on their financial backing as well and well past the age of 18. In addition to providing supportive services for children in foster care, including recreation, mentoringand a residential group home, the foundation hosts a weeklong residential camp and partners with the Atlanta Hawks to provide a basketball mentoring program.