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Topic Review
Xeroderma Pigmentosum
Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum.  
  • 1.0K
  • 24 Dec 2020
Topic Review
Factor V Leiden Thrombophilia
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels.
  • 1.0K
  • 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.
  • 1.0K
  • 23 Dec 2020
Topic Review
DEPDC5 Gene
DEP Domain Containing 5
  • 1.0K
  • 24 Dec 2020
Topic Review
C10orf71
C10orf71 is a gene located on chromosome 10 open reading frame 71. It is primarily understood that this gene is moderately expressed in muscle tissue and cardiac tissue.
  • 1.0K
  • 28 Oct 2022
Topic Review
CRISPR/Cas9-Based Genome Editing on Abiotic Stress Tolerance
Plants are subjected to various environmental stresses that negatively impact growth and development and limit crop productivity. Therefore, in order to meet the requirements of the growing world population and food security, it is essential to develop cultivars resistant to abiotic stresses. In recent years, with the availability of genetic databases and the advancement in genome editing techniques, it is feasible to edit target genes with precision and create new opportunities for crop improvement that conventional breeding methods could not achieve. The genome-editing method using CRISPR-Cas systems is very powerful and confers exceptional versatility to develop improved cultivars at abiotic stresses. These efficient gene editing techniques facilitate the cultivation of superior-performing genotypes in challenging environmental conditions without compromising yield.
  • 1.0K
  • 17 Nov 2023
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.
  • 1.0K
  • 24 Dec 2020
Topic Review
MMUT Gene
Methylmalonyl-CoA mutase
  • 1.0K
  • 04 Jan 2021
Topic Review
Epigenetic Regulation of Epidermal Differentiation
Epidermal differentiation relies on a highly coordinated program of gene expression. Epigenetic mechanisms, which commonly include DNA methylation, covalent histone modifications, and microRNA (miRNA) activity, modulate various stages of gene expression by altering chromatin accessibility and mRNA stability. Their involvement in epidermal differentiation is a matter ofintensive studies.
  • 1.0K
  • 18 Jan 2021
Topic Review
Septo-Optic Dysplasia
Septo-optic dysplasia is a disorder of early brain development.
  • 1.0K
  • 25 Dec 2020
Topic Review
Primary Macronodular Adrenal Hyperplasia
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.
  • 1.0K
  • 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. 
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  • 10 Oct 2020
Topic Review
PC Gene
pyruvate carboxylase
  • 1.0K
  • 25 Dec 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.
  • 1.0K
  • 24 Dec 2020
Topic Review
Rosacea
Rosacea is a long-lasting (chronic) skin disease that affects the face, primarily the forehead, nose, cheeks, and chin. The signs and symptoms of rosacea vary, and they may come and go or change over time.
  • 1.0K
  • 04 Jan 2021
Topic Review
Porphyria
Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
  • 1.0K
  • 24 Dec 2020
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.
  • 1.0K
  • 04 Jan 2021
Topic Review
Fuchs Endothelial Dystrophy
Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.
  • 1.0K
  • 23 Dec 2020
Topic Review
Fundus Albipunctatus
Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.
  • 1.0K
  • 23 Dec 2020
Topic Review
DLD Gene
Dihydrolipoamide Dehydrogenase: The DLD gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. 
  • 1.0K
  • 24 Dec 2020
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