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Topic Review
Healthy Live Births after Transfer of Mosaic Embryos
The implementation of next generation sequencing (NGS) in preimplantation genetic testing for aneuploidy (PGT-A) has led to a higher prevalence of mosaic diagnosis within the trophectoderm (TE) sample. Regardless, mosaicism could potentially increase the rate of live-born children with chromosomic syndromes, though available data from the transfer of embryos with putative PGT-A mosaicism are scarce but reassuring. Even with lower implantation and higher miscarriage rates, mosaic embryos can develop into healthy live births. Therefore, this urges an explanation for the disappearance of aneuploid cells throughout development, to provide guidance in the management of mosaicism in clinical practice. Technical overestimation of mosaicism, together with some sort of “self-correction” mechanisms during the early post-implantation stages, emerged as potential explanations. Unlike the animal model, in which the elimination of genetically abnormal cells from the future fetal lineage has been demonstrated, in human embryos this capability remains unverified even though the germ layer displays an aneuploidy-induced cell death lineage preference with higher rates of apoptosis in the inner cell mass (ICM) than in the TE cells.
  • 875
  • 29 Feb 2024
Topic Review
NOTCH3 Gene
notch 3
  • 874
  • 24 Dec 2020
Topic Review
X-linked Congenital Stationary Night Blindness
X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder.  
  • 874
  • 24 Dec 2020
Topic Review
ADAR Gene
adenosine deaminase, RNA specific
  • 874
  • 24 Dec 2020
Topic Review
PADI3 Gene
peptidyl arginine deiminase 3
  • 874
  • 25 Dec 2020
Topic Review
TPM2 Gene
Tropomyosin 2: The TPM2 gene provides instructions for making a protein called beta (β)-tropomyosin, which is part of the tropomyosin protein family. 
  • 874
  • 25 Dec 2020
Topic Review
Townes-Brocks Syndrome
Townes-Brocks syndrome is a genetic condition that affects several parts of the body.
  • 874
  • 23 Dec 2020
Topic Review
MN1 Gene
MN1 proto-oncogene, transcriptional regulator
  • 873
  • 22 Dec 2020
Topic Review
Hereditary Hyperekplexia
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises.
  • 873
  • 23 Dec 2020
Topic Review
Tietz Syndrome
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair.
  • 873
  • 23 Dec 2020
Topic Review
Myhre Syndrome
Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age.
  • 873
  • 23 Dec 2020
Topic Review
Ornithine Translocase Deficiency
Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 873
  • 24 Dec 2020
Topic Review
SBDS Gene
SBDS, ribosome maturation factor
  • 873
  • 24 Dec 2020
Topic Review
Rabson-Mendenhall Syndrome
Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 873
  • 24 Dec 2020
Topic Review
CYP3A5 Genotype
Transplanted patients on tacrolimus treatment are sometimes switched from an immediate release (bid) formulation to a modified release (qd) formulation. Following the switch changes in drug concentrations can be observed. Published data suggest that these changes are more pronounced in CYP3A5 enzyme expressers than in non-expressers. Possibly these differences are due to the fact that in the upper region of the small intestine CYP3A activity is higher, and that this expression of CYP3A decreases towards the more distal parts of the gut. Modified release formulations may therefore be subject to less pre-systemic metabolism. In all patients in whom the formulation of tacrolimus is changed drug levels need to be checked to avoid clinically relevant under- or over-exposure. In patients with the CYP3A5 expresser genotype this recommendation is even more important, as changes in drug exposure can be expected. 
  • 873
  • 18 Jan 2021
Topic Review
MicroRNA-Target Interaction Regulatory Network
Alzheimer’s Disease (AD) is a progressive neurodegenerative disorder and the most common cause of dementia; however, early diagnosis of the disease is challenging. Research suggests that biomarkers found in blood, such as microRNAs (miRNA), may be promising for AD diagnostics. Experimental data on miRNA–target interactions (MTI) associated with AD are scattered across databases and publications, thus making the identification of promising miRNA biomarkers for AD difficult. In response to this, a list of experimentally validated AD-associated MTIs was obtained from miRTarBase. Cytoscape was used to create a visual MTI network. STRING software was used for protein–protein interaction analysis and mirPath was used for pathway enrichment analysis. Several targets regulated by multiple miRNAs were identified, including: BACE1, APP, NCSTN, SP1, SIRT1, and PTEN. The miRNA with the highest numbers of interactions in the network were: miR-9, miR-16, miR-34a, miR-106a, miR-107, miR-125b, miR-146, and miR-181c. The analysis revealed seven subnetworks, representing disease modules which have a potential for further biomarker development. The obtained MTI network is not yet complete, and additional studies are needed for the comprehensive understanding of the AD-associated miRNA targetome. 
  • 873
  • 08 Dec 2021
Topic Review
MAPT Gene
Microtubule associated protein tau
  • 873
  • 23 Dec 2020
Topic Review
Encephalocraniocutaneous Lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.
  • 872
  • 25 Dec 2020
Topic Review
GJB3 Gene
Gap junction protein beta 3
  • 872
  • 25 Dec 2020
Topic Review
ELP1 Gene
Elongator complex protein 1: The ELP1 gene provides instructions for making a protein called elongator complex protein 1 (ELP1). 
  • 872
  • 24 Dec 2020
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