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Topic Review
Lujan Syndrome
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.
  • 1.2K
  • 24 Dec 2020
Topic Review
Chromosome 17
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
Small Fiber Neuropathy
Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands.
  • 1.2K
  • 25 Dec 2020
Topic Review
Apomixis Sensu Stricto
Apomixis may now be regarded as a consequence of sexual failure (i.e., loss-of-function) rather than as a recipe for clonal success (i.e., gain-of-function). There is increasing evidence that apomixis is a modification of the normal sexual developmental pathway. Most of the events that characterize sexual reproduction may be retained both structurally and functionally in apomictic reproduction, with the exceptions that the reduced egg cell is replaced by an unreduced egg cell, with absent or modified meiosis (i.e., apomeiosis), and the seed development does occur without egg cell fertilization (i.e., parthenogenesis). In addition, it is clear that residual sexual function is retained in pseudogamous apomixis, as seed development may occur without fertilization of either the egg cell or the central cell (i.e., autonomous apomixis), but fertilization may be required to form the endosperm in many apomictic plants.
  • 1.2K
  • 26 Oct 2020
Topic Review
GNAS Gene
GNAS complex locus
  • 1.2K
  • 23 Dec 2020
Topic Review
Next-Generation Sequencing in Neurogenetic Diseases
A wide variety of neurogenetic diseases have been discovered owing to the development of next-generation sequencing (NGS) technology. The clinical application of NGS significantly accelerated the discovery of disease-causing genes and promoted the understanding of molecular genetic mechanisms associated with hereditary diseases. 
  • 1.2K
  • 18 Jun 2021
Topic Review
Grange Syndrome
Grange syndrome is a rare condition that primarily affects the blood vessels. It is characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart.
  • 1.2K
  • 23 Dec 2020
Topic Review
Cherubism
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.
  • 1.2K
  • 24 Dec 2020
Topic Review
Epigenetics
Changes in gene expression/phenotype without underlying DNA modification.
  • 1.2K
  • 21 Dec 2020
Topic Review
MT-CYB Gene
mitochondrially encoded cytochrome b
  • 1.2K
  • 23 Dec 2020
Topic Review
LAMA2-Related Muscular Dystrophy
LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.
  • 1.2K
  • 23 Dec 2020
Topic Review
FFEVF
Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families.
  • 1.2K
  • 04 Jan 2021
Topic Review
ERAP1 Gene
Endoplasmic reticulum aminopeptidase 1
  • 1.2K
  • 29 Dec 2020
Topic Review
AVP Gene
Arginine vasopressin
  • 1.2K
  • 04 Jan 2021
Topic Review
Neuroblastoma
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.
  • 1.2K
  • 04 Jan 2021
Topic Review
Childhood Myocerebrohepatopathy Spectrum
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders.
  • 1.2K
  • 24 Dec 2020
Topic Review
OCA2 Gene
OCA2 melanosomal transmembrane protein
  • 1.2K
  • 24 Dec 2020
Topic Review
Frontonasal Dysplasia
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.
  • 1.2K
  • 25 Dec 2020
Topic Review
Bradykinin Hypothesis
Bradykinin (BK) (Greek brady-, slow; -kinin, kīn(eîn) to move) is a peptide that promotes inflammation. It causes arterioles to dilate (enlarge) via the release of prostacyclin, nitric oxide, and endothelium-derived hyperpolarizing factor and makes veins constrict, via prostaglandin F2, thereby leading to leakage into capillary beds, due to the increased pressure in the capillaries. Bradykinin is a physiologically and pharmacologically active peptide of the kinin group of proteins, consisting of nine amino acids. A class of drugs called angiotensin converting enzyme inhibitors (ACE inhibitors) increase bradykinin levels by inhibiting its degradation, thereby increasing its blood pressure lowering effect. ACE inhibitors are FDA approved for the treatment of hypertension and heart failure.
  • 1.2K
  • 14 Oct 2022
Topic Review
Stargardt Macular Degeneration
Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss.
  • 1.2K
  • 23 Dec 2020
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