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Topic Review
CHILD Syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.
  • 1.1K
  • 04 Jan 2021
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.
  • 1.1K
  • 02 Aug 2023
Topic Review
Autoinflammatory Diseases in Children
Abnormalities of the innate immunity machinery make up a motley group of rare diseases named ‘autoinflammatory’, which are caused by mutations in genes involved in different immune pathways. Self-limited inflammatory bouts involving skin, serosal membranes, joints, gut and other districts of the human body burst and recur with variable periodicity in most autoinflammatory diseases (ADs), often leading to secondary amyloidosis as a long-term complication. Dysregulated inflammasome activity, overproduction of interleukin (IL)-1 or other IL-1-related cytokines and delayed shutdown of inflammation are pivotal keys in the majority of ADs. The recent progress of cellular biology has clarified many molecular mechanisms behind monogenic ADs, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome (or ‘autosomal dominant familial periodic fever’), cryopyrin-associated periodic syndrome, mevalonate kinase deficiency, hereditary pyogenic diseases, idiopathic granulomatous diseases and defects of the ubiquitin-proteasome pathway. A long-lasting history of recurrent fevers should require the ruling out of chronic infections and malignancies before considering ADs in children.
  • 1.1K
  • 15 Aug 2022
Topic Review
MicroRNAs in Thyroid Cancers Prognosis
Current prognostication systems have inherent limitations associated with the prediction of recurrence risk from thyroid cancer (TC). Recent studies identified associations between specific levels of microRNAs and aggressive TC clinicopathological features.
  • 1.1K
  • 26 Oct 2020
Topic Review
Persistent Müllerian Duct Syndrome
Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.
  • 1.1K
  • 24 Dec 2020
Topic Review
Post-Translational Modifications in Colorectal Cancer
Colorectal cancer (CRC) is one of the most common cancers worldwide. Its main modifiable risk factors are diet, alcohol consumption, and smoking. Thus, the right approach through lifestyle changes may lead to its prevention. Although cancer is a multi-factorial process, the study of post-translational modifications (PTMs) of proteins associated with CRC has gained interest, as inappropriate modification is closely related to the activation of cell signalling pathways involved in carcinogenesis. 
  • 1.1K
  • 06 Feb 2023
Topic Review
PC Gene
pyruvate carboxylase
  • 1.1K
  • 25 Dec 2020
Topic Review
Geleophysic Dysplasia
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.
  • 1.1K
  • 23 Dec 2020
Topic Review
DLD Gene
Dihydrolipoamide Dehydrogenase: The DLD gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. 
  • 1.1K
  • 24 Dec 2020
Topic Review
Non-Sensing Ocular Ion Channels
Ionchannels are membrane protein that allows the flow of ions across the cell membrane. This is essential for cellular communication and hence mutations that results in non functional protein cause disease. The paper reviews only nonsense mutations of ion channels that cause blindness and proposes several ways this can be corrected. 
  • 1.1K
  • 10 Oct 2020
Topic Review
CHOPS Syndrome
CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.
  • 1.1K
  • 24 Dec 2020
Topic Review
SDHA Gene
succinate dehydrogenase complex flavoprotein subunit A
  • 1.1K
  • 19 Apr 2021
Topic Review
Polycythemia Vera
Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.
  • 1.1K
  • 24 Dec 2020
Topic Review
AGT Gene
angiotensinogen
  • 1.1K
  • 24 Dec 2020
Topic Review
Septo-Optic Dysplasia
Septo-optic dysplasia is a disorder of early brain development.
  • 1.1K
  • 25 Dec 2020
Topic Review
Human IGF2 Gene
Regulation of the human IGF2 gene displays multiple layers of control, which secures a genetically and epigenetically predetermined gene expression pattern throughout embryonal growth and postnatal life. These predominantly nuclear regulatory mechanisms converge on the function of the IGF2-H19 gene cluster on Chromosome 11 and ultimately affect IGF2 gene expression. Deregulation of such control checkpoints leads to the enhancement of IGF2 gene transcription and/or transcript stabilization, ultimately leading to IGF-II peptide overproduction. This type of anomaly is responsible for the effects observed in terms of both abnormal fetal growth and increased cell proliferation, typically observed in pediatric overgrowth syndromes and cancer.
  • 1.1K
  • 20 Jun 2023
Topic Review
Silver Syndrome
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.1K
  • 25 Dec 2020
Topic Review
CFEOM
Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.
  • 1.1K
  • 04 Jan 2021
Topic Review
Sex Determination Cascade in Silkworm
In insects, sex determination pathways involve three levels of master regulators: primary signals, which determine the sex; executors, which control sex-specific differentiation of tissues and organs; and transducers, which link the primary signals to the executors. The primary signals differ widely among insect species. In Diptera alone, several unrelated primary sex determiners have been identified. However, the doublesex (dsx) gene is highly conserved as the executor component across multiple insect orders. The transducer level shows an intermediate level of conservation. In many, but not all examined insects, a key transducer role is performed by transformer (tra), which controls sex-specific splicing of dsx. In Lepidoptera, studies of sex determination have focused on the lepidopteran model species Bombyx mori (the silkworm). In B. mori, the primary signal of sex determination cascade starts from Fem, a female-specific PIWI-interacting RNA, and its targeting gene Masc, which is apparently specific to and conserved among Lepidoptera. Tra has not been found in Lepidoptera. Instead, the B. mori PSI protein binds directly to dsx pre-mRNA and regulates its alternative splicing to produce male- and female-specific transcripts. 
  • 1.1K
  • 19 May 2021
Topic Review
B Chromosomes in Psalidodon scabripinnis Species Complex
B chromosomes are extra-genomic components of cells found in individuals and in populations of some eukaryotic organisms. They have been described since the first observations of chromosomes, but several aspects of their biology remain enigmatic. Despite being present in hundreds of fungi, plants, and animal species, only a small number of B chromosomes have been investigated through high-throughput analyses, revealing the remarkable mechanisms employed by these elements to ensure their maintenance. Populations of the Psalidodon scabripinnis species complex exhibit great B chromosome diversity, making them a useful material for various analyses.
  • 1.1K
  • 15 Sep 2022
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