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Topic Review
HCFC1 Gene
Host cell factor C1
  • 808
  • 22 Dec 2020
Topic Review
Molybdenum Cofactor Deficiency
Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."
  • 808
  • 23 Dec 2020
Topic Review
Multiple System Atrophy
Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men.
  • 808
  • 23 Dec 2020
Topic Review
Carnitine Palmitoyltransferase II Deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.
  • 808
  • 19 Apr 2021
Topic Review
POMT2 Gene
protein O-mannosyltransferase 2
  • 808
  • 25 Dec 2020
Topic Review
Preimplantation Genetic Testing for Monogenic Disorders
Preimplantation genetic tests have a broad range of applications, conceptually divisible into two main areas: inherited disorders, where alterations can be found in the parents (PGT-M and PGT-SR), and de novo conditions, i.e., not inherited, as in the case of PGT-A. The objective of PGT-M testing is to avoid transferring embryos affected by a specific monogenic disease. This can only be achieved by selecting embryos that either do not carry the mutation or are healthy carriers (in the case of recessive diseases), as may occur in patients with a positive family or personal history for a monogenic condition. This necessitates a preliminary study tailored to each couple, involving family members. In general, PGT-M can be applied to the diagnosis of all hereditary monogenic diseases for which the responsible gene has been identified, one or two index cases are available, and a diagnostic linkage analysis protocol can be developed. Conversely, it is not indicated in cases of large gene deletions/duplications or de novo triplet expansions since the phasing of the at-risk haplotype is not feasible.
  • 808
  • 27 Nov 2023
Topic Review
OPN1MW Gene
opsin 1, medium wave sensitive
  • 808
  • 24 Dec 2020
Topic Review
Pyle Disease
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. 
  • 808
  • 24 Dec 2020
Topic Review
Generalized Pustular Psoriasis
Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis.
  • 807
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type IX
Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.
  • 807
  • 23 Dec 2020
Topic Review
Ophthalmo-Acromelic Syndrome
Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).
  • 807
  • 24 Dec 2020
Topic Review
COL6A1 Gene
collagen type VI alpha 1 chain
  • 807
  • 24 Dec 2020
Topic Review
PDP1 Gene
pyruvate dehydrogenase phosphatase catalytic subunit 1
  • 807
  • 25 Dec 2020
Topic Review
PIK3C3 Inhibition
Autophagy promotes resistance to CRC-therapy by specifically promoting GSK-3β/Wnt/β-catenin signaling to promote CSC survival, and 36-077, a PIK3C3/VPS34 inhibitor, helps promote efficacy of CRC therapy.
  • 807
  • 03 Jun 2021
Topic Review
Frataxin and Mutations linked with Disease
Frataxin, the protein implicated in Friedreich’s ataxia (FRDA), has a role in the Fe–S cluster biogenesis and possesses a well-defined structure. Several frataxin point mutations, identified in heterozygous FRDA patients, affect the protein structure and function and its binding with partners.
  • 807
  • 08 Mar 2022
Topic Review
Inherited Thyroxine-Binding Globulin Deficiency
Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck.
  • 807
  • 23 Dec 2020
Topic Review
RAPADILINO Syndrome
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.
  • 807
  • 24 Dec 2020
Topic Review
Isolated Ectopia Lentis
Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens.
  • 807
  • 23 Dec 2020
Topic Review
PMM2-Congenital Disorder of Glycosylation
PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.
  • 806
  • 07 Mar 2021
Topic Review
ABCA3 Gene
ATP binding cassette subfamily A member 3
  • 806
  • 24 Dec 2020
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