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Topic Review
Frontonasal Dysplasia
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.
  • 1.2K
  • 25 Dec 2020
Topic Review
HSAN5
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.
  • 1.2K
  • 04 Jan 2021
Topic Review
Liddle Syndrome
Liddle syndrome is an inherited form of high blood pressure (hypertension).
  • 1.2K
  • 24 Dec 2020
Topic Review
AML with Myelodysplasia-Related Changes
Acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) is a distinct biologic subtype of AML that represents 25–34% of all AML diagnoses and associates with especially inferior outcomes compared to non-MRC AML. Typically, patients with AML-MRC experience low remission rates following intensive chemotherapy and a median overall survival of merely 9–12 months. In light of these discouraging outcomes, it has become evident that more effective therapies are needed for patients with AML-MRC. Liposomal daunorubicin–cytarabine (CPX-351) was approved in 2017 for adults with newly diagnosed AML-MRC and those with therapy-related AML (t-AML), and remains the only therapy specifically approved for this patient population.
  • 1.2K
  • 26 Oct 2020
Topic Review
ELN Gene
Elastin
  • 1.2K
  • 24 Dec 2020
Topic Review
Retinoblastoma
Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.
  • 1.2K
  • 04 Jan 2021
Topic Review
OCA2 Gene
OCA2 melanosomal transmembrane protein
  • 1.1K
  • 24 Dec 2020
Topic Review
SNCA Gene
synuclein alpha
  • 1.1K
  • 24 Dec 2020
Topic Review
Farsightedness
Farsightedness, also known as hyperopia, is an eye condition that causes blurry near vision. People who are farsighted have more trouble seeing things that are close up (such as when reading or using a computer) than things that are far away (such as when driving).
  • 1.1K
  • 25 Dec 2020
Topic Review
Sex-Chromosome Dosage Compensation
Dosage compensation is the process by which organisms equalize the expression of genes between members of different biological sexes. Across species, different sexes are often characterized by different types and numbers of sex chromosomes. In order to neutralize the large difference in gene dosage produced by differing numbers of sex chromosomes among the sexes, various evolutionary branches have acquired various methods to equalize gene expression among the sexes. Because sex chromosomes contain different numbers of genes, different species of organisms have developed different mechanisms to cope with this inequality. Replicating the actual gene is impossible; thus organisms instead equalize the expression from each gene. For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information from the other, expressed X chromosome. Thus, human females have the same number of expressed X-linked genes as do human males (XY), both sexes having essentially one X chromosome per cell, from which to transcribe and express genes. There are three main mechanisms of achieving dosage compensation which are widely documented in the literature and which are common to most species. These include random inactivation of one female X chromosome (as observed in Mus musculus; this is called X-inactivation), a two-fold increase in the transcription of a single male X chromosome (as observed in Drosophila melanogaster), and decreased transcription by half in both of the X chromosomes of a hermaphroditic organism (as observed in Caenorhabditis elegans). These mechanisms have been widely studied and manipulated in model organisms commonly used in the laboratory research setting. A summary of these forms of dosage compensation is illustrated below. However, there are also other less common forms of dosage compensation, which are not as widely researched and are sometimes specific to only one species (as observed in certain bird and monotreme species).
  • 1.1K
  • 20 Oct 2022
Topic Review
Stargardt Macular Degeneration
Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss.
  • 1.1K
  • 23 Dec 2020
Topic Review
Detargeting Lentiviral-Mediated CFTR Expression
Lentiviral-mediated integration of a CFTR transgene cassette into airway basal cells is a strategy being considered for cystic fibrosis (CF) cell-based therapies. However, CFTR expression is highly regulated in differentiated airway cell types and a subset of intermediate basal cells destined to differentiate. Since basal stem cells typically do not express CFTR, suppressing the CFTR expression from the lentiviral vector in airway basal cells may be beneficial for maintaining their proliferative capacity and multipotency. We identified miR-106b as highly expressed in proliferating airway basal cells and extinguished in differentiated columnar cells. Herein, we developed lentiviral vectors with the miR-106b-target sequence (miRT) to both study miR-106b regulation during basal cell differentiation and detarget CFTR expression in basal cells. Given that miR-106b is expressed in the 293T cells used for viral production, obstacles of viral genome integrity and titers were overcome by creating a 293T-B2 cell line that inducibly expresses the RNAi suppressor B2 protein from flock house virus. While miR-106b vectors effectively detargeted reporter gene expression in proliferating basal cells and following differentiation in the air–liquid interface and organoid cultures, the CFTR-miRT vector produced significantly less CFTR-mediated current than the non-miR-targeted CFTR vector following transduction and differentiation of CF basal cells. These findings suggest that miR-106b is expressed in certain airway cell types that contribute to the majority of CFTR anion transport in airway epithelium.
  • 1.1K
  • 20 Oct 2020
Topic Review
Medically Assisted Reproduction
Since the birth of Louise Joy Brown, the first baby conceived via in vitro fertilization, more than 9 million children have been born worldwide using assisted reproductive technologies (ART). In vivo fertilization takes place in the maternal oviduct, where the unique physiological conditions guarantee the healthy development of the embryo. During early embryogenesis, a major wave of epigenetic reprogramming takes place that is crucial for the correct development of the embryo.
  • 1.1K
  • 27 Apr 2022
Topic Review
Familial Male-limited Precocious Puberty
Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected.
  • 1.1K
  • 20 Apr 2023
Topic Review
Null Allele Problem in Pedigree Reconstruction in Viticulture
Null alleles are alleles that are recessive to codominant markers without any effect on the phenotype. In simple sequence repeats (SSR) assays, there are several reasons for the lack of amplification at a locus: the primer does not bind well, longer fragments do not amplify due to imperfections in the polymerase chain reaction (PCR), or the amount of DNA in the sample is insufficient. In microsatellite studies, null alleles are mostly used in pedigree analysis and population genetics calculations such as diversity estimation. Null alleles in pedigree analysis can cause rejection of the true parent; if not recognized while in population genetics they distort the results in underestimating diversity. 
  • 1.1K
  • 24 Aug 2022
Topic Review
UHRF1 in the ECREM Complex
The abnormal DNA methylation profiles are transmitted from the cancer mother cell to the daughter cells through the involvement of a macromolecular complex in which the ubiquitin-like containing plant homeodomain (PHD), and an interesting new gene (RING) finger domains 1 (UHRF1), play the role of conductor. Indeed, UHRF1 interacts with epigenetic writers, such as DNA methyltransferase 1 (DNMT1), histone methyltransferase G9a, erasers like histone deacetylase 1 (HDAC1), and functions as a hub protein. Thus, targeting UHRF1 and/or its partners is a promising strategy for epigenetic cancer therapy. The natural compound thymoquinone (TQ) exhibits anticancer activities by targeting several cellular signaling pathways, including those involving UHRF1.
  • 1.1K
  • 27 May 2021
Topic Review
Spondylocostal Dysostosis
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Walker-Warburg Syndrome
Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Dent Disease
Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time.
  • 1.1K
  • 24 Dec 2020
Topic Review
Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.
  • 1.1K
  • 24 Dec 2020
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