Tuberous Sclerosis Complex (TSC) is a multisystemic, autosomal dominant genetic disease known to symptomatically impact the entire body usually by developing noncancerous tumors. Although increasing in prevalence, TSC remains widely misunderstood due to its complex molecular str…
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Bi-allelic mutations in genes encoding the subunits of the adaptor protein complex 4 (AP-4) complex lead to childhood-onset forms of hereditary spastic paraplegia (HSP). To systematically document the clinical presentation and natural history of AP-4-related HSP we developed an …
Colorectal cancer (CRC) is the third leading cause of death from cancer in both men andwomen in the Western world. Improved screening efforts, surveillance, and treatment havereduced CRC mortality in older patients. However, the incidence is increasing in young adults,even in th…
Hox genes, dubbed the choreographers of animal development, lay out body plans by assigning positional identity to cells. In mammals, Hox genes are organized into compact gene clusters, with genes located close to one another. Due to their evolutionary history, the protein produ…
Moyamoya (MMA) is a progressive cerebral steno-occlusive angiopathy which can lead to strokes. Its natural history derives from adult East Asian cohorts with idiopathic disease. Clinical differences in pediatric, non-Asian and syndromic patients are reported but understudied. Th…
Since their discovery, the BRCA1 and BRCA2 genes have garnered the attention of many, as related news and access to genetic testing became more available to the public. Considering the public’s increasing awareness of breast cancer and access to BRCA genetic testing, individuals…
Atopic dermatitis (AD) is a dermatological disease with symptoms of skin dryness and pruritus, erythema and exudation and lichenification. Although AD is not life threatening, frequent complications such as itchiness, sleep insufficiency, and social embarrassment substantially a…
Across a broad range of species, evolution has modified a common vertebrate body plan to produce endless forms most beautiful. A central goal of evolutionary biology is to understand the nature and extent of genetic patterns underlying adaptive phenotypes. For example, when face…
Evolutionary developmental biology (evo-devo) is the study of trait evolution through variation in development. As early as the modern synthesis, it was recognized that to an understanding of the function of genes during development was critical to understanding evolution as a w…
The evolutionary success of sociality an is evident and the variety of different social behaviours in the natural world is extensive. From the immense and wonderfully coordinated school of fish, the incredible aerial displays of starling murmuration, to the bond between mother a…
Human aging is accompanied by frailty, susceptibility to disease, decline in motor and cognitive functions, and overall decline in physiological function as well as day to day living. The current work presents genomic and epigenomics approaches for studying the complex phenotype…
Radiotherapy, endocrine therapy, chemotherapy and targeted therapy adjunct to surgery have a critical role in the management of early breast cancer for outcome improvement. Anthracycline containing chemotherapy reduces 10-year incidence of breast cancer mortality by an absolute …
Mario Francesco Canella was an Italian scientist active primarily before and during the Italian fascist period and the second world war. His writing is notable for an early period dedicated to a firm defense of Lamarckism and opposition to Darwinism, followed by an abrupt shift …
Primary Sjögren’s syndrome is an autoimmune disease, in which the immune system targets the exocrine glands. The disease is characterized by inflammation and dysfunction of the salivary and lacrimal glands, leading to dry eyes and mouth.
Group II introns are a class of large, versatile ribozymes that interrupt genetic loci in bacteria, archaea and the organelles of certain eukaryotes. Following transcription, these ribozymes autocatalytically excise themselves through self-splicing. The Ll.LtrB group II intron w…
Evolution during treatment is a significant clinical problem that leads to treatment failure, resistance, and disease progression in many solid tumors, including breast cancer. Through analysis of clinical tissue samples and using a combination of established genomic techniques,…
Approximately 5–10% of cancers are thought to be hereditary, caused by pathogenic variants in genes associated with inherited cancer syndromes. Previvors, individuals who have a higher predisposition to cancer due to genetic or other risk factors, have specific healthcare and ps…
Repetitive DNA is ubiquitous in eukaryotic genomes, but a clear link between its structure, abundance, and biological significance is lacking. There are two main types of repetitive DNA: transposable elements, which are interspersed in the genome, and satellite DNA, which is fou…
There have been increasing reports of Ancylostoma caninum infections that do not clear after multiple treatments in different dog breeds in the United States over the past few years. The cause of the lack of clearance of these infections in the majority of cases was determined t…