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Topic Review
Structural Variation
Mutations in DNA can be limited to one or a few nucleotides, or encompass larger deletions, insertions, duplications, inversions and translocations that span long stretches of DNA or even full chromosomes. These so-called structural variations (SVs) can alter the gene copy number, modify open reading frames, change regulatory sequences or chromatin structure and thus result in major phenotypic changes. 
  • 2.3K
  • 10 May 2021
Topic Review
Chromosomal instability in Fanconi anemia
Fanconi anemia (FA), a chromosomal instability syndrome, is caused by inherited pathogenic variants in any of 22 FANC genes, which cooperate in the FA/BRCA pathway. This pathway regulates the repair of DNA interstrand crosslinks (ICLs) through homologous recombination. In FA proper repair of ICLs is impaired and accumulation of toxic DNA double strand breaks occurs. To repair this type of DNA damage, FA cells activate alternative error-prone DNA repair pathways, which may lead to the formation of gross structural chromosome aberrations of which radial figures are the hallmark of FA, and their segregation during cell division are the origin of subsequent aberrations such as translocations, dicentrics and acentric fragments. The deficiency in DNA repair has pleiotropic consequences in the phenotype of patients with FA, including developmental alterations, bone marrow failure and an extreme risk to develop cancer.
  • 2.2K
  • 15 Jan 2021
Topic Review
Maple Syrup Urine Disease
       Maple Syrup Urine Disease (MSUD) is caused by a deficiency of branched-chain α-ketoacid dehydrogenase (BCKD). It is a metabolic disorder characterized by increased levels of branched-chain amino acids (BCAAs) and their respective branched-chain α-ketoacids (BCKAs) [1]. 
  • 2.2K
  • 26 Oct 2020
Topic Review
Saul-Wilson Syndrome
Saul-Wilson syndrome is characterized by short stature (dwarfism) and other skeletal abnormalities.
  • 2.2K
  • 24 Dec 2020
Topic Review
Breast Cancer Pathology and Biomarkers
This contribution describes breast pathology and breast cancer incidence and mortality statistics. The contribution also discusses the clinical performance of already approved breast cancer biomarkers and their performance is compared to novel discovered breast cancer biomarkers.
  • 2.2K
  • 28 Jul 2020
Topic Review
Origin of Ugrians
Both genetic and archaeological data indicate the admixture of the Mezhovskaya population with northern forest hunters in the late Bronze Age, which gave rise to a “proto-Ugric” community. This finding is consistent with the linguistic reconstruction of the proto-Ugric language. Genetic data indicate an admixture of proto-Hungarians with early Sarmatians and early Huns, and the first admixture can be reconciled with the formation of the Gorokhovo culture and its integration into the early Sarmatian Prokhorovka culture, while the second admixture corresponds to the transformation of the Sargat and Sarmatian cultures due to Xiongnu invasions.
  • 2.2K
  • 08 Aug 2023
Topic Review
LTBL
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic disorders called leukodystrophies, which feature abnormalities of the nervous system's white matter. White matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates nerve fibers and promotes the rapid transmission of nerve impulses.
  • 2.2K
  • 04 Jan 2021
Topic Review
SHORT Syndrome
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body.
  • 2.2K
  • 04 Jan 2021
Topic Review
Papaya Flavour Profiling
A major challenge to the papaya industry is inconsistency in fruit quality and, in particular, flavour, which is a complex trait that comprises taste perception in the mouth (sweetness, acidity, or bitterness) and aroma produced by several volatile compounds. Current commercial varieties vary greatly in their taste, likely due to historical prioritised selection for fruit appearance as well as large environmental effects. Therefore, it is important to better understand the genetic and biochemical mechanisms and biosynthesis pathways underpinning preferable flavour in order to select and breed for better tasting new commercial papaya varieties. As an initial step, objectively measurable standards of the compound profiles that provide papaya’s taste and aroma, together with ‘mouth feel’, are required. This review presents an overview of the approaches to characterise the flavour profiles of papaya through sugar component determination, volatile compound detection, sensory panel testing, as well as genomics-based studies to identify the papaya flavour. 
  • 2.2K
  • 27 Sep 2021
Topic Review
Childhood Asthma
Asthma is a complex and multifactorial respiratory disease with a high prevalence in the pediatric population. Variation in treatment response to asthma therapies has been described among patients, and difficult-to-treat asthma carries both high healthcare and socioeconomic burden to the patients and society. Omic studies can be used to discover the molecular mechanisms underlying asthma susceptibility and treatment response, contributing to a better knowledge and definition of asthma pathogenesis and therefore, to the development of precision medicine. This entry aims to summarize the recent findings of omic studies of treatment response in childhood asthma. Between 2018-2019 a total of 13 omic studies has been performed involving genomics, epigenomics, transcriptomics, metabolomics, and the microbiome. These have been focused on the response to three common asthma medications: short-acting beta agonists, inhaled corticosteroids, and leukotriene receptor antagonists. Novel associations of different biomarkers with asthma treatment response have been described. However, stronger evidence and more consistent results are required to implement these molecular biomarkers into clinical practice by establishing the most appropriate therapy for each patient.
  • 2.2K
  • 29 Oct 2020
Topic Review
The Chromosome Organization in the Cell Nuclei
The spatial organization of the genome into the cell nucleus plays a central role in controlling several genome functions, such as gene expression and DNA replication timing during the S-phase of the cell cycle. Here we show how chromosomes are organized in the cell nucleus according to the gene density and to the GC-level of the various chromosomal bands, allowing a corrected and coordinated gene expression during cell life. The human genome, such as the genome of the other mammals, is composed by two very different parts: one very gene-dense, replicated at the onset of the S-phase, very GC-rich and the other endowed with opposite features. These two genomic compartments are localized far apart within a chromosome, with regions having intermediate properties located between them. This determines a zig-zag organization of the larger chromosomes, to position the gene-poorest genome compartment at the nuclear periphery and the gene-richest one at the nuclear interior.
  • 2.2K
  • 05 Jan 2022
Topic Review
Y Chromosome Evolution and Functional Specialization
The Y chromosome is one of the sex chromosomes found in males of animals of different taxa, including insects and mammals. Among all chromosomes, the Y chromosome is characterized by a unique chromatin landscape undergoing dynamic evolutionary change. Being entirely heterochromatic, the Y chromosome as a rule preserves few functional genes, but is enriched in tandem repeats and transposons. Due to difficulties in the assembly of the highly repetitive Y chromosome sequence, deep analyses of Y chromosome evolution, structure, and functions are limited to a few species, one of them being Drosophila melanogaster. Here researchers survey comparative evolutionary history of the fly and human Y chromosomes, and functions of Y-linked piRNA clusters ensuring sex-specific piRNA silencing. 
  • 2.1K
  • 09 May 2022
Topic Review
IMAGe Anomaly
The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body.
  • 2.1K
  • 04 Jan 2021
Topic Review
Congenital Insensitivity to Pain
Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain.
  • 2.1K
  • 24 Dec 2020
Topic Review
Genetic Aspects of Seed Longevity
Seed longevity is the most important trait related to the management of gene banks because it governs the regeneration cycle of seeds. Thus, seed longevity is a quantitative trait. Prior to the discovery of molecular markers, classical genetic studies have been performed to identify the genetic determinants of this trait. Post-2000 saw the use of DNA-based molecular markers and modern biotechnological tools, including RNA sequence (RNA-seq) analysis, to understand the genetic factors determining seed longevity.
  • 2.1K
  • 06 May 2022
Topic Review
Au-Kline Syndrome
Au-Kline syndrome is a condition that affects many body systems. Individuals with this condition typically have weak muscle tone (hypotonia), intellectual disability, and delayed development. Speech is delayed in children with Au-Kline syndrome, and some are able to say only one or a few words or are never able to speak. In addition, affected children learn to walk later than usual, and some are never able to walk on their own.
  • 2.1K
  • 24 Dec 2020
Topic Review
Pre-mRNA Splicing
Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndrome (MDS) is a heterogeneous group of chronic myeloid neoplasms characterized by many symptoms and a high risk of progression to acute myeloid leukemia. Recent findings indicate that mutations in splicing factors represent a novel class of driver mutations in human cancers and affect about 50% of Myelodysplastic syndrome (MDS) patients. Somatic mutations in MDS patients are frequently found in genes SF3B1, SRSF2, U2AF1, and ZRSR2. Interestingly, they are involved in the recognition of 3′ splice sites and exons. It has been reported that mutations in these splicing regulators result in aberrant splicing of many genes.
  • 2.1K
  • 12 Aug 2021
Topic Review
Limb Development
The function of retinoic acid (RA) during limb development is still debated, as loss and gain of function studies led to opposite conclusions. With regard to limb initiation, genetic studies demonstrated that activation of FGF10 signaling is required for the emergence of limb buds from the trunk, with Tbx5 and RA signaling acting upstream in the forelimb field, whereas Tbx4 and Pitx1 act upstream in the hindlimb field. Early studies in chick embryos suggested that RA as well as Meis1 and Meis2 (Meis1/2) are required for subsequent proximodistal patterning of both forelimbs and hindlimbs, with RA diffusing from the trunk, functioning to activate Meis1/2 specifically in the proximal limb bud mesoderm. However, genetic loss of RA signaling does not result in loss of limb Meis1/2 expression and limb patterning is normal, although Meis1/2 expression is reduced in trunk somitic mesoderm. More recent studies demonstrated that global genetic loss of Meis1/2 results in a somite defect and failure of limb bud initiation. Other new studies reported that conditional genetic loss of Meis1/2 in the limb results in proximodistal patterning defects, and distal FGF8 signaling represses Meis1/2 to constrain its expression to the proximal limb.
  • 2.1K
  • 19 Jan 2021
Topic Review
Jacobsen Syndrome
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.
  • 2.1K
  • 23 Dec 2020
Topic Review
Transplacental Gene Delivery
Transplacental gene delivery (TPGD) is a technique for delivering nucleic acids to fetal tissues via tail-vein injections in pregnant mice. After transplacental transport, administered nucleic acids enter fetal circulation and are distributed among fetal tissues. In 1995, TPGD was established by Tsukamoto et al., and its mechanisms, and potential applications have been further characterized since. In 2019, Nakamura et al. demonstrated that intravenous injection of plasmid DNA containing genome editing component (CRISPR/Cas9 system) produced indels in fetal myocardial cells. In the future, this unique technique will allow manipulation of fetal cell functions in basic studies of fetal gene therapy.
  • 2.1K
  • 31 Jul 2020
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