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Topic Review
Hartnup Disease
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet.
  • 955
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.
  • 955
  • 23 Dec 2020
Topic Review
Factors to Improve Healthy Reproduction
Humans’ health is the result of a complex and balanced interplay between genetic factors, environmental stimuli, lifestyle habits, and the microbiota composition. The knowledge about their single contributions, as well as the complex network linking each to the others, is pivotal to understand the mechanisms underlying the onset of many diseases and can provide key information for their prevention, diagnosis and therapy. This applies also to reproduction. Reproduction, involving almost 10% of our genetic code, is one of the most critical human’s functions and is a key element to assess the well-being of a population. The last decades revealed a progressive decline of reproductive outcomes worldwide. As a consequence, there is a growing interest in unveiling the role of the different factors involved in human reproduction and great efforts have been carried out to improve its outcomes. As for many other diseases, it is now clear that the interplay between the underlying genetics, our commensal microbiome, the lifestyle habits and the environment we live in can either exacerbate the outcome or mitigate the adverse effects.
  • 955
  • 28 Apr 2021
Topic Review
Chromosome 16 Open Reading Frame 13
An Error has occurred retrieving Wikidata item for infobox Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.
  • 955
  • 27 Sep 2022
Topic Review
Wolfram Syndrome
Wolfram syndrome is a condition that affects many of the body's systems.
  • 955
  • 24 Dec 2020
Topic Review
Norrie Disease
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.
  • 954
  • 24 Dec 2020
Topic Review
TNFRSF1A Gene
TNF receptor superfamily member 1A: The TNFRSF1A gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1).
  • 954
  • 25 Dec 2020
Topic Review
IKBKG Gene
Inhibitor of nuclear factor kappa B kinase subunit gamma
  • 953
  • 23 Dec 2020
Topic Review
LIPH Gene
Lipase H
  • 953
  • 23 Dec 2020
Topic Review
Roberts Syndrome
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities.
  • 953
  • 24 Dec 2020
Topic Review
C9orf72-Associated Toxic Dipeptide Repeats
Protein homeostasis is essential for neuron longevity, requiring a balanced regulation between protein synthesis and degradation. The clearance of misfolded and aggregated proteins, mediated by autophagy and the ubiquitin–proteasome systems, maintains protein homeostasis in neurons, which are post-mitotic and thus cannot use cell division to diminish the burden of misfolded proteins. When protein clearance pathways are overwhelmed or otherwise disrupted, the accumulation of misfolded or aggregated proteins can lead to the activation of ER stress and the formation of stress granules, which predominantly attempt to restore the homeostasis by suppressing global protein translation. Alterations in these processes have been widely reported among studies investigating the toxic function of dipeptide repeats (DPRs) produced by G4C2 expansion in the C9orf72 gene of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • 953
  • 26 Jan 2024
Topic Review
Mannose-Binding Lectin Deficiency
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.
  • 952
  • 23 Dec 2020
Topic Review
CYP17A1 Gene
Cytochrome P450 Family 17 Subfamily A Member 1
  • 952
  • 23 Dec 2020
Topic Review
CHARGE Syndrome
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.
  • 952
  • 24 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 952
  • 24 Dec 2020
Topic Review
SMC3 Gene
structural maintenance of chromosomes 3
  • 952
  • 24 Dec 2020
Topic Review
Genome/Gene Editing
Theoretically, a DNA sequence-specific recognition protein that can distinguish a DNA sequence equal to or more than 16 bp could be unique to mammalian genomes. Long-sequence-specific nucleases, such as naturally occurring Homing Endonucleases and artificially engineered ZFN, TALEN, and Cas9-sgRNA, have been developed and widely applied in genome editing.
  • 952
  • 28 Sep 2021
Topic Review
EDA Gene
Ectodysplasin A: The EDA gene provides instructions for making a protein called ectodysplasin A. 
  • 951
  • 24 Dec 2020
Topic Review
Proteus Syndrome
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.
  • 951
  • 24 Dec 2020
Topic Review
Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system.
  • 950
  • 23 Dec 2020
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