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Topic Review
SMARD1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy.
  • 498
  • 23 Dec 2020
Topic Review
SMARCB1 in the Pathobiology of Epithelioid Sarcoma
SMARCB1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1) is a key component of the SWI/SNF (SWItch/Sucrose Non-Fermentable) chromatin remodeling complexes. Functional inactivation of SMARCB1 is the only recurrent genetic alteration reported in so far in Epithelioid Sarcoma (ES), a very rare and aggressive mesenchymal tumor of unclear origin and uncertain lineage characterized by a prevalent epithelioid morphology.
  • 803
  • 13 Sep 2022
Topic Review
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • 450
  • 24 Dec 2020
Topic Review
SMARCA4 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • 365
  • 24 Dec 2020
Topic Review
SMARCA2 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  • 400
  • 24 Dec 2020
Topic Review
Smallpox Vaccine
The smallpox vaccine is the first vaccine to be developed against a contagious disease. In 1796, the British doctor Edward Jenner demonstrated that an infection with the relatively mild cowpox virus conferred immunity against the deadly smallpox virus. Cowpox served as a natural vaccine until the modern smallpox vaccine emerged in the 20th century. From 1958 to 1977, the World Health Organization (WHO) conducted a global vaccination campaign that eradicated smallpox, making it the only human disease to be eradicated. Although routine smallpox vaccination is no longer performed on the general public, the vaccine is still being produced to guard against bioterrorism, biological warfare, and monkeypox. The term vaccine derives from the Latin word for cow, reflecting the origins of smallpox vaccination. Edward Jenner referred to cowpox as variolae vaccinae (smallpox of the cow). The origins of the smallpox vaccine became murky over time, especially after Louis Pasteur developed laboratory techniques for creating vaccines in the 19th century. Allan Watt Downie demonstrated in 1939 that the modern smallpox vaccine was serologically distinct from cowpox, and vaccinia was subsequently recognized as a separate viral species. Whole-genome sequencing has revealed that vaccinia is most closely related to horsepox, and the cowpox strains found in Great Britain are the least closely related to vaccinia.
  • 1.9K
  • 14 Apr 2023
Topic Review
Small-Molecule Therapeutic for Progeria Treatment
Hutchinson–Gilford progeria syndrome (HGPS), or progeria, is an extremely rare disorder that belongs to the class of laminopathies, diseases characterized by alterations in the genes that encode for the lamin proteins or for their associated interacting proteins. In particular, progeria is caused by a point mutation in the gene that codifies for the lamin A gene. This mutation ultimately leads to the biosynthesis of a mutated version of lamin A called progerin, which accumulates abnormally in the nuclear lamina. This accumulation elicits several alterations at the nuclear, cellular, and tissue levels that are phenotypically reflected in a systemic disorder with important alterations, mainly in the cardiovascular system, bones, skin, and overall growth, which results in premature death at an average age of 14.5 years. Unlike the majority of the rare diseases, it has, since November 2020, a specific FDA approved drug, lonafarnib. However, this small molecule represents a treatment, but it does not cure the disease, and it has several limitations that make the development of new therapeutic strategies a critical need in the field. 
  • 1.1K
  • 13 Jul 2021
Topic Review
Small-Molecule Inhibitors Targeting Proteasome-Associated Deubiquitinases
The 26S proteasome is the principal protease for regulated intracellular proteolysis. This multi-subunit complex is also pivotal for clearance of harmful proteins that are produced throughout the lifetime of eukaryotes. Recent structural and kinetic studies have revealed a multitude of conformational states of the proteasome in substrate-free and substrate-engaged forms. These conformational transitions demonstrate that proteasome is a highly dynamic machinery during substrate processing that can be also controlled by a number of proteasome-associated factors. Essentially, three distinct family of deubiquitinases–USP14, RPN11, and UCH37–are associated with the 19S regulatory particle of human proteasome. USP14 and UCH37 are capable of editing ubiquitin conjugates during the process of their dynamic engagement into the proteasome prior to the catalytic commitment. In contrast, RPN11-mediated deubiquitination is directly coupled to substrate degradation by sensing the proteasome’s conformational switch into the commitment steps. 
  • 525
  • 23 Jun 2021
Topic Review
Small-Diameter Tissue-Engineered Vascular Grafts
In general, arterial bypass grafting in the heart or below the knee requires small-diameter grafts. Thus, shortage of material for such surgeries remains a big challenge because autologous grafts are often not available in certain patient groups such as claudicants, patients with diabetics or vein disease, and in patients requiring reoperations. This has further underscored the need for developing alternative small-diameter vascular grafts. One candidate, small-diameter tissue-engineered vascular grafts (SD-TEVGs), is fabricated using novel techniques and interdisciplinary knowledge including material, engineering, and cell biology. Advantages of using SD-TEVGs as compared to autografts, include noninvasive surgery during preparation of grafts, unlimited availability, and customized dimension.
  • 564
  • 13 Apr 2021
Topic Review
Small Spirocyclic, Xanthene-Based Fluorescent Probes
The use of fluorescent probes in a multitude of applications is still an expanding field. This review covers the recent progress made in small molecular, spirocyclic xanthene-based probes containing different heteroatoms (e.g., oxygen, silicon, carbon) in position 10′. After a short introduction, we will focus on applications like the interaction of probes with enzymes and targeted labeling of organelles and proteins, detection of small molecules, as well as their use in therapeutics or diagnostics and super-resolution microscopy. Furthermore, the last part will summarize recent advances in the synthesis and understanding of their structure–behavior relationship including novel computational approaches. 
  • 1.1K
  • 07 Jan 2021
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