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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Alzheimer's Disease: Overview01:26

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Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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CYP2D6 variants in amyotrophic lateral sclerosis: an association study of risk and survival.

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Updated: Feb 26, 2026

Assessment of Social Transmission of Food Preferences Behaviors
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Late-onset Tay-Sachs disease.

Andrew W Barritt1,2, Stuart J Anderson1, P Nigel Leigh1,3

  • 1Department of Neurology, Hurstwood Park Neurosciences Centre, Haywards Heath, UK.

Practical Neurology
|July 26, 2017
PubMed
Summary

Adult-onset Tay-Sachs disease, a rare GM2 gangliosidosis, was diagnosed in a young man with an amyotrophic lateral sclerosis-like syndrome. Genetic testing confirmed mutations in the HEXA gene, revealing this very rare condition.

Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Adult-onset neurodegenerative disorders present diagnostic challenges.
  • Amyotrophic lateral sclerosis-like syndromes require thorough differential diagnosis.
Keywords:
CEREBELLAR DEGENERATIONHexosaminidase A DeficiencyMOTOR CONTROLNEUROGENETICSNEUROPSYCHOLOGY

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  • GM2 gangliosidosis encompasses rare lysosomal storage disorders.