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Topic Review
Hand-Foot-Genital Syndrome
Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system.
  • 1.3K
  • 23 Dec 2020
Topic Review
Breast Cancer and Genetic Alterations
Breast cancer is a heterogeneous disease, and numerous associated genetic alterations have been identified.
  • 1.3K
  • 08 Jul 2022
Topic Review
Congenital Hypothyroidism
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
  • 1.3K
  • 07 Apr 2023
Topic Review
The Role of Uric Acid in Human Health
Uric acid is the final product of purine metabolism and is converted to allantoin in most mammals via the uricase enzyme. The accumulation of loss of function mutations in the uricase gene rendered hominoids (apes and humans) to have higher urate concentrations compared to other mammals. The loss of human uricase activity may have allowed humans to survive environmental stressors, evolution bottlenecks, and life-threatening pathogens. While high urate levels may contribute to developing gout and cardiometabolic disorders such as hypertension and insulin resistance, low urate levels may increase the risk for neurodegenerative diseases. The double-edged sword effect of uric acid has resurrected a growing interest in urate’s antioxidant role and the uricase enzyme’s role in modulating the risk of obesity. 
  • 1.3K
  • 13 Oct 2023
Topic Review
1q21.1 Microdeletion
1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.
  • 1.3K
  • 23 Dec 2020
Topic Review
Chromosome 21
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs.
  • 1.3K
  • 24 Dec 2020
Topic Review
Smith-Kingsmore Syndrome
Smith-Kingsmore syndrome is a neurological disorder characterized by a head that is larger than normal (macrocephaly), intellectual disability, and seizures.
  • 1.3K
  • 25 Dec 2020
Topic Review
EFFECT OF SURJECTION ON INHERITANCE, Second Edition
Abstract:  This is Third Edition: Consider an evolutionary process. In most genetic inheritance and in human cultural systems each new offspring is typically assigned to be produced by a specific pair of the previous population. This form of mathematical arrangement is called a surjection. We have thus briefly described the mechanics of genetics – physical mechanics describes the possible forms of loci, and normal genetic statistics describe the results as viability of offspring in actual use. But we have also described much of the mechanics of mathematical anthropology. Understanding that what we know as cultural inheritance is also the result of finding surjections and their consequences, especially in cultures for the expected populations. The review below shows us that in describing evolution, two sorts of statistics are required: those that follow specific inheritance of actual surviving individuals from specific matings, and those which follow population averages on a larger classes of individuals.  The underlying probabilities of each in a population, given the underlying surjections, is that the mathematics of these probabilities can be understood by finite Hilbert spaces.   This does not mean “quantum mechanics” predicts both biological and cultural evolution, thought citations below shows that quantum physics is in fact responsible for the underling group theory that creates biological evolution.  We especially note the brilliant work of L. Gatlin in the 1960’s describing how biological evolution is a necessary part of physics. The parallels to cultural evolution are instead in the relation to how mathematical group theory can affect the potential structuring of subsequent generations.
  • 1.3K
  • 26 Oct 2020
Topic Review
22q11.2 Microdeletion
Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA:567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level like in case of monozygotic twins, phenotypes are expressed differently in 22q11.2 deletion individuals. The rest of the genome, as well as epigenome and environmental factors, are not without influence on the variability in phenotypes. The penetrance seems to be more genotype-specific than deleted locus-specific. The transcript levels of deleted genes are not usually reduced by 50% as assumed due to haploinsufficiency. 22q11.2DS is often undiagnosed condition, as each patient may have a different set out of 180 possible clinical manifestations. Diverse dysmorphic traits are present in patients from different ethnicities, which makes diagnosis even more difficult. 22q11.2 deletion syndrome serve as an example of genetic syndrome that is not easy to manage at all stages: diagnosis, consulting and dealing with.
  • 1.3K
  • 08 Sep 2020
Topic Review
STRC Gene
Stereocilin: The STRC gene provides instructions for making a protein called stereocilin. 
  • 1.3K
  • 24 Dec 2020
Topic Review
Vitiligo
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body.
  • 1.3K
  • 04 Jan 2021
Topic Review
CRISPR/Cas-Based Gene Editing
There is a growing need for a molecular vehicle that can successfully load and deliver CRISPR/Cas ribonucleoprotein complexes (and other gene editing systems) into target tissues. Synthetic delivery vehicles are being developed but so far have been only moderately successful. Extracellular vesicles are ideal candidates for a universal biological platform to produce ready-to-use, programmable, and highly biocompatible CRISPR therapeutics. Using extracellular vesicles in the CRISPR/Cas research and, ultimately, in the clinic, demands novel, advanced techniques for protein/RNA loading, surface engineering, and manufacturing. Safety of CRISPR/Cas systems and EVs also need to be tested extensively for every particular application.
  • 1.3K
  • 03 Nov 2020
Topic Review
TMEM39B
Transmembrane protein 39B (TMEM39B) is a protein that in humans is encoded by the gene TMEM39B. TMEM39B is a multi-pass membrane protein with eight transmembrane domains. The protein localizes to the plasma membrane and vesicles. The precise function of TMEM39B is not yet well-understood by the scientific community, but differential expression is associated with survival of B cell lymphoma, and knockdown of TMEM39B is associated with decreased autophagy in cells infected with the Sindbis virus. Furthermore, the TMEM39B protein been found to interact with the SARS-CoV-2 ORF9C (also known as ORF14) protein. TMEM39B is expressed at moderate levels in most tissues, with higher expression in the testis, placenta, white blood cells, adrenal gland, thymus, and fetal brain.
  • 1.3K
  • 21 Nov 2022
Topic Review
FN1 Gene
Fibronectin 1
  • 1.3K
  • 25 Dec 2020
Topic Review
X-linked adrenal Hypoplasia Congenita
X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body.
  • 1.3K
  • 24 Dec 2020
Topic Review
Myoclonic Epilepsy Myopathy Sensory Ataxia
Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders.
  • 1.3K
  • 23 Dec 2020
Topic Review
Androgen Insensitivity Syndrome
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female external sex characteristics or signs of both male and female sexual development.
  • 1.3K
  • 24 Dec 2020
Topic Review
PIWI-interacting RNAs
A set of key regulators whose function still needs to be fully elucidated are small non-coding RNAs (sncRNAs). Due to their broad range of unfolding functions in the regulation of gene expression during transcription and translation, sncRNAs are becoming vital to many cellular processes. Within the past decade, a novel class of sncRNAs called PIWI-interacting RNAs (piRNAs) have been implicated in various diseases, and understanding their complete function is of vital importance. Compounding evidence suggests that piRNAs encompass a wider functional range than small interfering RNAs (siRNAs) and microRNAs (miRNAs), which have been studied more in terms of cellular homeostasis and disease.
  • 1.3K
  • 11 Jun 2021
Topic Review
Poly ADP-Ribose Polymerases
Poly ADP-ribose polymerases (PARP) are specialized enzymes that catalyze the addition of ADP ribose units from “nicotinamide adenine dinucleotide-donor molecules” to their target substrates.
  • 1.3K
  • 02 Jul 2021
Topic Review
Collagen VI-related Myopathy
Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe.
  • 1.3K
  • 24 Dec 2020
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