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Topic Review
BCR Gene
BCR, RhoGEF and GTPase activating protein
  • 1.0K
  • 24 Dec 2020
Topic Review
PNP Gene
purine nucleoside phosphorylase
  • 1.0K
  • 25 Dec 2020
Topic Review
Alopecia Areata
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.
  • 1.0K
  • 24 Dec 2020
Topic Review
CRISPR/Cas Technology
CRISPR/Cas (clustered regularly interspaced short palindromic repeats linked to Cas nuclease) technology has revolutionized many aspects of genetic engineering research. The changes introduced by the CRISPR/Cas system are based on the repair paths of the single or double strand DNA breaks that cause insertions, deletions, or precise integrations of donor DNA.
  • 1.0K
  • 29 Apr 2021
Topic Review
Rapid-Onset Dystonia Parkinsonism
Rapid-onset dystonia parkinsonism is a rare movement disorder.
  • 1.0K
  • 24 Dec 2020
Topic Review
Tarsal-carpal Coalition Syndrome
Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet.
  • 1.0K
  • 23 Dec 2020
Topic Review
Dihydrolipoamide Dehydrogenase Deficiency
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
  • 1.0K
  • 24 Dec 2020
Topic Review
PGT-SR
Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab. It is the least well-known of the various forms of PGT but nonetheless provides effective treatment for many carrier couples. Structural chromosomal rearrangements (SRs) lead to infertility, repeated implantation failure, pregnancy loss, and congenitally affected children, despite the balanced parent carrier having no obvious phenotype. A high risk of generating chromosomally unbalanced gametes and embryos is the rationale for PGT-SR, aiming to select for those that are chromosomally normal, or at least balanced like the carrier parent. PGT-SR largely uses the same technology as PGT-A, i.e., initially FISH, superseded by array CGH, SNP arrays, Karyomapping, and, most recently, next-generation sequencing (NGS). Trophectoderm biopsy is now the most widely used sampling approach of all PGT variants, though there are prospects for non-invasive methods. In PGT-SR, the most significant limiting factor is the availability of normal or balanced embryo(s) for transfer. Factors directly affecting this are rearrangement type, chromosomes involved, and sex of the carrier parent. De novo aneuploidy, especially for older mothers, is a common limiting factor.
  • 1.0K
  • 27 Mar 2023
Topic Review
Chicories Genome-Wide Datasets for Marker-Assisted Crop Breeding Applications
Cichorium intybus L. is the most economically important species of its genus and among the most important of the Asteraceae family. In chicory, many linkage maps have been produced, several sets of mapped and unmapped markers have been developed, and dozens of genes linked to traits of agronomic interest have been investigated. This treasure trove of information, properly cataloged and organized, is of pivotal importance for the development of superior commercial products with valuable agronomic potential in terms of yield and quality, including reduced bitter taste and increased inulin production, as well as resistance or tolerance to pathogens and resilience to environmental stresses.
  • 1.0K
  • 02 Aug 2023
Topic Review
Adenosine Deaminase Deficiency
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 1.0K
  • 24 Dec 2020
Topic Review
PML Gene
promyelocytic leukemia
  • 1.0K
  • 25 Dec 2020
Topic Review
Bardet-Biedl Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 1.0K
  • 24 Dec 2020
Topic Review
Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa.
  • 1.0K
  • 25 Dec 2020
Topic Review
FREM1 Gene
FRAS1 related extracellular matrix 1
  • 1.0K
  • 25 Dec 2020
Topic Review
PCNT Gene
pericentrin
  • 1.0K
  • 25 Dec 2020
Topic Review
Pfeiffer Syndrome
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
  • 1.0K
  • 24 Dec 2020
Topic Review
22q13.3 Deletion Syndrome
22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3.  
  • 1.0K
  • 25 Dec 2020
Topic Review
Cap Myopathy
Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.
  • 1.0K
  • 24 Dec 2020
Topic Review
Hereditary Transthyretin-Related Amyloidosis
Point mutations of the transthyretin (TTR) gene are related with hereditary amyloidosis (hATTR), a rare disease whose real incidence is only partially estimated. Somatic mosaicism and other genetic factors influence the expressivity, complexity, progression, and transmission of the disease and should be better investigated, to improve the time to diagnosis and to estimate the real number of cases in endemic and non-endemic areas. 
  • 1.0K
  • 21 Oct 2022
Topic Review
NR5A1 Gene
nuclear receptor subfamily 5 group A member 1
  • 1.0K
  • 24 Dec 2020
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