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Topic Review
Tau Oligomers Neurotoxicity
Although the mechanisms of toxic activity of tau are not fully recognized, it is supposed that the tau toxicity is related rather not to insoluble tau aggregates but to its intermediate forms. It seems that neurofibrillar tangles (NFTs) themselves, despite being composed of toxic tau, are probably neither necessary nor sufficient for tau-induced neuronal dysfunction and toxicity. Tau oligomers (TauOs) formed during the early stages of tau aggregation are the pathological forms that play a key role in eliciting the loss of neurons and behavioral impairments in several neurodegenerative disorders called tauopathies. They can be found in tauopathic diseases, the most common of which is Alzheimer’s disease (AD). Evidence of co-occurrence of b-amyloid, α-synuclein, and tau into their most toxic forms, i.e., oligomers, suggests that these species interact and influence each other’s aggregation in several tauopathies. The mechanism responsible for oligomeric tau neurotoxicity is a subject of intensive investigation.
  • 1.1K
  • 21 Jan 2021
Topic Review
Chromosome 10
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs.
  • 1.0K
  • 24 Dec 2020
Topic Review
Burn-McKeown Syndrome
Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.
  • 1.0K
  • 24 Dec 2020
Topic Review
PHEX Gene
phosphate regulating endopeptidase homolog X-linked
  • 1.0K
  • 25 Dec 2020
Topic Review
WAGR Syndrome
WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).
  • 1.0K
  • 23 Dec 2020
Topic Review
Angelman Syndrome
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
  • 1.0K
  • 24 Dec 2020
Topic Review
Pallister-Killian Mosaic Syndrome
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.
  • 1.0K
  • 24 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
Human Malformation Syndromes and SHH Pathway
Human hereditary malformation syndromes are caused by mutations in the genes of the signal transduction molecules involved in fetal development. Among them, the Sonic hedgehog (SHH) signaling pathway is the most important, and many syndromes result from its disruption. The output of the SHH pathway is shown as GLI activity, which is generated by SHH in a concentration-dependent manner, i.e., the sum of activating form of GLI (GLIA) and repressive form of GLI (GLIR). Which gene is mutated and whether the mutation is loss-of-function or gain-of-function determine in which concentration range of SHH the imbalance occurs. In human malformation syndromes, too much or too little GLI activity produces symmetric phenotypes affecting brain size, craniofacial (midface) dysmorphism, and orientation of polydactyly with respect to the axis of the limb. 
  • 1.0K
  • 17 Dec 2021
Topic Review
Miyoshi Myopathy
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.
  • 1.0K
  • 23 Dec 2020
Topic Review
TRPM1 Gene
Transient receptor potential cation channel subfamily M member 1: The TRPM1 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 1 (TRPM1). 
  • 1.0K
  • 25 Dec 2020
Topic Review
Low-energy electron Damage to DNA
The complex physical and chemical reactions between the large number of low-energy (0-30 eV) electrons (LEEs) released by high energy radiation interacting with genetic material can lead to the formation of various DNA lesions such as single strand breaks (SSBs), crosslinks (CLs), base modifications, double strand breaks (DSBs) and other clustered lesions.
  • 1.0K
  • 29 Jul 2021
Topic Review
Bone in Inherited Endocrine Tumors
Endocrine tumors are neoplasms originating from specialized hormone-secreting cells. They can develop as sporadic tumors, caused by somatic mutations, or in the context of familial Mendelian inherited diseases. Congenital forms, manifesting as syndromic or non-syndromic diseases, are caused by germinal heterozygote autosomal dominant mutations in oncogenes or tumor suppressor genes.
  • 1.0K
  • 30 Aug 2021
Topic Review
Stüve-Wiedemann Syndrome
Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature.
  • 1.0K
  • 23 Dec 2020
Topic Review
DEPDC5 Gene
DEP Domain Containing 5
  • 1.0K
  • 24 Dec 2020
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
Inherited Retinal Diseases' RPE65 Variants
RPE65 is involved in the visual cycle, a multi-step process through which light entering the eye is converted into electrical signals transmitted to the brain. The absence or alterations of RPE65 leads to vision loss. This article aims to review the evidence for the genetic basis of RPE65 related Inherited retinal diseases with a particular focus on the most appropriate approaches to molecular testing of patients that represent possible candidates for the RPE65-gene supplementation therapy.
  • 1.0K
  • 22 Sep 2021
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.
  • 1.0K
  • 20 Jun 2023
Topic Review
AMER1 Gene
APC membrane recruitment protein 1
  • 1.0K
  • 24 Dec 2020
Topic Review
Bradyopsia
Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.
  • 1.0K
  • 24 Dec 2020
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