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Topic Review
Spondylothoracic Dysostosis
Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs.
  • 1.1K
  • 23 Dec 2020
Topic Review
Pilomatricoma
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles.
  • 1.1K
  • 24 Dec 2020
Topic Review
Epigenetic Regulation of Epidermal Differentiation
Epidermal differentiation relies on a highly coordinated program of gene expression. Epigenetic mechanisms, which commonly include DNA methylation, covalent histone modifications, and microRNA (miRNA) activity, modulate various stages of gene expression by altering chromatin accessibility and mRNA stability. Their involvement in epidermal differentiation is a matter ofintensive studies.
  • 1.1K
  • 18 Jan 2021
Topic Review
DNA Assembly
Assembly of DNA-grafted 3D superlattice is composed of two pivotal elements: nanoparticles (NPs) core and DNA shell. The progress of chemical synthesis technique enables the chemical composition of NP core unrestricted; it can be metals, oxides, polymers, even biological molecule, which also allow for the integration of multiple functions like luminescent, catalytic, magnetic properties, and so on.
  • 1.1K
  • 28 Jul 2021
Topic Review
MYH9-Related Disorder
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).
  • 1.1K
  • 23 Dec 2020
Topic Review
Autoimmune Addison Disease
Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.
  • 1.1K
  • 24 Dec 2020
Topic Review
Usher Syndrome
Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time.
  • 1.1K
  • 23 Dec 2020
Topic Review
Björnstad Syndrome
Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.
  • 1.1K
  • 24 Dec 2020
Topic Review
AKT1 Gene
AKT serine/threonine kinase 1
  • 1.1K
  • 24 Dec 2020
Topic Review
Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.
  • 1.1K
  • 31 Dec 2020
Topic Review
McCune-Albright Syndrome
McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
  • 1.1K
  • 23 Dec 2020
Topic Review
Chromosome 1
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Otopalatodigital Syndrome Type 1
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development.
  • 1.1K
  • 24 Dec 2020
Topic Review
Russell-Silver Syndrome
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth.
  • 1.1K
  • 24 Dec 2020
Topic Review
Cohen Syndrome
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. These facial features typically include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open mouth.
  • 1.1K
  • 24 Dec 2020
Topic Review
THAP1 Gene
THAP domain containing 1: The THAP1 gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes.
  • 1.1K
  • 25 Dec 2020
Topic Review
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body.
  • 1.1K
  • 25 Dec 2020
Topic Review
DNA Damage and Multiple Myeloma
Multiple myeloma (MM) is an incurable plasma cell malignancy characterized by genomic instability. MM cells present various forms of genetic instability, including chromosomal instability, microsatellite instability, and base-pair alterations, as well as changes in chromosome number. The tumor microenvironment and an abnormal DNA repair function affect genetic instability in this disease. In addition, states of the tumor microenvironment itself, such as inflammation and hypoxia, influence the DNA damage response, which includes DNA repair mechanisms, cell cycle checkpoints, and apoptotic pathways. Unrepaired DNA damage in tumor cells has been shown to exacerbate genomic instability and aberrant features that enable MM progression and drug resistance.
  • 1.1K
  • 18 Feb 2021
Topic Review
New Genetic Screening Technologies (NIPT)
The search for prenatal detection of chromosomal anomalies has been ongoing since the 1960s. At the very beginning, maternal age was the screening parameter of choice, and Down syndrome the anomaly that was almost exclusively screened for. Since then things have, at least technically, changed enormously, even though Down syndrome is still the main focus of screening and in the minds of many patients the only diagnosis that they may confront. Structural chromosomal anomalies and monogenic diseases are still not focused on by current screening algorithms, nor by the education system or by society in general. With the clinical implementation of non-invasive prenatal testing (NIPT) in 2012, there has been a paradigm shift in prenatal screening. First trimester combined screening (FTCS) based on maternal age, fetal nuchal translucency thickness (NT) and the serum markers β-HCG and PAPP-A has a detection rate (DR) of 90–95%, a false positive rate of 2.5–5% and a PPV of 3.4 for the detection of trisomy 21. Included is the advantage that, if the results are abnormal, it could raise suspicion not only for the common trisomies, but also for early detectable fetal structural defects and other clinically relevant findings such as rare autosomal trisomies (RATs), triploidy, single gene disorders and copy number variants not detectable in a targeted NIPT approach. A disadvantage is the comparatively high false positive rate leading to invasive procedures.
  • 1.1K
  • 26 Apr 2021
Topic Review
MYOC and Glaucoma
MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG).
  • 1.1K
  • 02 Feb 2021
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