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Topic Review
LAMM Syndrome
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth.
  • 1.6K
  • 04 Jan 2021
Topic Review
Insulin-like Growth Factor 1 Signaling in Mammalian Hearing
Insulin-like growth factor 1 (IGF-1) is a peptide hormone belonging to the insulin family of proteins. Almost all of the biological effects of IGF-1 are mediated through binding to its high-affinity tyrosine kinase receptor (IGF1R), a transmembrane receptor belonging to the insulin receptor family. Factors, receptors and IGF-binding proteins form the IGF system, which has multiple roles in mammalian development, adult tissue homeostasis, and aging. Consequently, mutations in genes of the IGF system, including downstream intracellular targets, underlie multiple common pathologies and are associated with multiple rare human diseases. Here we review the contribution of the IGF system to our understanding of the molecular and genetic basis of human hearing loss by describing, (i) the expression patterns of the IGF system in the mammalian inner ear; (ii) downstream signaling of IGF-1 in the hearing organ; (iii) mouse mutations in the IGF system, including upstream regulators and downstream targets of IGF-1 that inform cochlear pathophysiology; and (iv) human mutations in these genes causing hearing loss.
  • 1.6K
  • 22 Oct 2021
Topic Review
Neurodegeneration with Brain Iron Accumulation
The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. The onset of NBIA disorders ranges from infancy to adulthood. Main clinical signs are related to extrapyramidal features (dystonia, parkinsonism and choreoathetosis), and neuropsychiatric abnormalities. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17. However, many patients remain without a genetic diagnosis, and therefore, there must be additional yet undiscovered NBIA genes. The genetic heterogeneity and the corresponding encoded proteins emphasize that several pathways are involved in NBIA syndromes: iron and lipid metabolism, mitochondrial dynamics, and autophagy. Moreover, for these forms as well as for many neurodegenerative conditions, mitochondrial dysfunction and oxidative stress are common mechanisms of disease.
  • 1.6K
  • 22 Sep 2021
Topic Review
MiRNA-Mediated Epigenetic Mechanisms
This entry discuss the role of ncRNAs as mediators of epigenetic pathways associated with carcinogenesis, and provides an overview on how deregulated microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) alter the expression of cancer-promoting genes.  Overall, miss regulated expression of ncRNAs alter cell cycle progression and apoptosis to increase proliferation, thereby facilitating cellular transformation into malignancies. The potential for using ncRNAs as targets for early prognosis and for developing cancer therapies is discussed.
  • 1.6K
  • 16 Dec 2020
Topic Review
Type 1 Diabetes
Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood.
  • 1.6K
  • 04 Jan 2021
Topic Review
EDARADD Gene
EDAR associated death domain: The EDARADD gene provides instructions for making a protein called the EDAR-associated death domain protein. 
  • 1.6K
  • 24 Dec 2020
Topic Review
15q13.3 Microdeletion
15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.  
  • 1.6K
  • 26 Aug 2021
Topic Review
Yao Syndrome
Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system.
  • 1.6K
  • 24 Dec 2020
Topic Review
Bartter and Gitelman Syndromes
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore, both syndromes are characterized by alterations in the secretion and reabsorption processes that occur in these regions. Patients suffer from deficiencies in the concentration of electrolytes in the blood and urine, which leads to different systemic consequences related to these salt-wasting processes. The main clinical features of both syndromes are hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronism. Despite having a different molecular etiology, Gitelman and Bartter syndromes share a relevant number of clinical symptoms, and they have similar therapeutic approaches. The main basis of their treatment consists of electrolytes supplements accompanied by dietary changes. Specifically for Bartter syndrome, the use of non-steroidal anti-inflammatory drugs is also strongly supported. 
  • 1.6K
  • 29 Oct 2021
Topic Review
Human Diseases with Mutations in the BRPF1-KAT6A/KAT6B Complex
The bromodomain and PHD finger–containing protein1 (BRPF1) is a member of family IV of the bromodomain-containing proteins that participate in the post-translational modification of histones. Patients with BRPF1 mutations often display intellectual disability or suffer from leukemia or medulloblastoma. BRPF1 is an activator and a scaffold protein of a multiunit complex, with other members being KAT6A/KAT6B, the inhibitor of growth 5 (ING5) or ING4 and MYST/Esa1-associated factor 6 (MEAF6). 
  • 1.6K
  • 09 Sep 2022
Topic Review
MBD5-Associated Neurodevelopmental Disorder
MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.
  • 1.6K
  • 24 Dec 2020
Topic Review
CRISPR-Based Technologies in Yeasts
CRISPR, a family of DNA sequences found in the genomes of bacteria and archaea. Compared with traditional genetic engineering methods and other gene-editing alternatives, CRISPR/Cas9 is described as efficient, easy-to-use, and able to target multiple sites, besides being “nature-made,” as bacteria have been using it for millions of years. CRISPR is being tested in vineyards and wineries to target some of wine’s biggest challenges. Therefore, CRISPR opens brand new doors for winemakers using commercial yeasts when it comes to efficiently produce target flavors and reducing harmful compounds and off-odors.
  • 1.6K
  • 04 Feb 2021
Topic Review
Diet: DNA Methylation and Cancer
Cancer initiation and progression is an accumulation of genetic and epigenetic modifications. DNA methylation is a common epigenetic modification that regulates gene expression, and aberrant DNA methylation patterns are considered a hallmark of cancer. The human diet is a source of micronutrients, bioactive molecules, and mycotoxins that have the ability to alter DNA methylation patterns and are thus a contributing factor for both the prevention and onset of cancer. In this review, we summarize the literature on dietary micronutrients, bioactive compounds, and food-borne mycotoxins that affect DNA methylation patterns and identify their potential in the onset and treatment of cancer.
  • 1.6K
  • 09 Oct 2020
Topic Review
Multiple Familial Trichoepithelioma
Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.
  • 1.5K
  • 23 Dec 2020
Topic Review
19p13.13 Deletion Syndrome
19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13
  • 1.5K
  • 23 Dec 2020
Topic Review
Partington Syndrome
Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.
  • 1.5K
  • 17 Jun 2021
Topic Review
Immune Mediated Diseases
Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by environmental and genetic factors. Associations between genetic loci and susceptibility to these diseases have been widely studied, and hundreds of risk variants have emerged during the last two decades, with researchers observing a shared genetic pattern among them.
  • 1.5K
  • 22 Dec 2020
Topic Review
ALS-Specific GWAS Challenges
Amyotrophic Lateral Sclerosis (ALS) is the most common late-onset motor neuron disorder, but our current knowledge of the molecular mechanisms and pathways underlying this disease remains elusive. Genome-Wide Association Studies (GWAS) aim to identify Single Nucleotide Polymorphisms (SNPs) and other types of genetic variation that are more frequent in patients than in people without the disease, using a variety of statistical tests. Despite the rapid recent technological advances and great efforts in the GWAS field that have led to the genomic profiling of large ALS cohorts, the identified associations have been able to explain only a very small fraction of the ALS heritability and aetiology. Here, we outline ALS-Specific GWAS Challenges, explaining the limitations of traditional GWAS analyses, considering known features of the ALS genetic architecture and hypotheses about ALS pathology (e.g., multilocus interactions, rare variations with low effect size). Future advances in the genomic and machine learning fields may bring about a better understanding of ALS genetic architecture and enable improved personalized approaches to this and other devastating and complex diseases.
  • 1.5K
  • 01 Dec 2021
Topic Review
HSAN IE
Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. It is characterized by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy).
  • 1.5K
  • 04 Jan 2021
Topic Review
Polony Sequencing
Polony sequencing is an inexpensive but highly accurate multiplex sequencing technique that can be used to “read” millions of immobilized DNA sequences in parallel. This technique was first developed by Dr. George Church's group at Harvard Medical School. Unlike other sequencing techniques, Polony sequencing technology is an open platform with freely downloadable, open source software and protocols. Also, the hardware of this technique can be easily set up with a commonly available epifluorescence microscopy and a computer-controlled flowcell/fluidics system. Polony sequencing is generally performed on paired-end tags library that each molecule of DNA template is of 135 bp in length with two 17–18 bp paired genomic tags separated and flanked by common sequences. The current read length of this technique is 26 bases per amplicon and 13 bases per tag, leaving a gap of 4–5 bases in each tag.
  • 1.5K
  • 15 Nov 2022
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