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Topic Review
Matrisomal Gene Panel for Head and Neck Cancer
Squamous cell carcinoma of the head and neck (SCCHN) is common worldwide and related to several risk factors including smoking, alcohol consumption, poor dentition and human papillomavirus (HPV) infection. Different etiological factors may influence the tumor microenvironment and play a role in dictating response to therapeutics. Here, we sought to investigate whether an early-stage SCCHN-specific prognostic matrisome-derived gene signature could be identified for HPV-negative SCCHN patients (n = 168), by applying a bioinformatics pipeline to the publicly available SCCHN-TCGA dataset. We identified six matrisome-derived genes with high association with prognostic outcomes in SCCHN. A six-gene risk score, the SCCHN TMI (SCCHN-tumor matrisome index: composed of MASP1, EGFL6, SFRP5, SPP1, MMP8 and P4HA1) was constructed and used to stratify patients into risk groups. Using machine learning-based deconvolution methods, we found that the risk groups were characterized by a differing abundance of infiltrating immune cells. 
  • 1.1K
  • 23 Nov 2021
Topic Review
Cutis Laxa
Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.
  • 1.1K
  • 24 Dec 2020
Topic Review
Williams Syndrome
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.  
  • 1.1K
  • 24 Dec 2020
Topic Review
ORC1 Gene
origin recognition complex subunit 1
  • 1.1K
  • 24 Dec 2020
Topic Review
Nicolaides-Baraitser Syndrome
Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.
  • 1.1K
  • 24 Dec 2020
Topic Review
5-alpha Reductase Deficiency
5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 1.1K
  • 23 Dec 2020
Topic Review
TEK Gene
TEK receptor tyrosine kinase: The TEK gene (also called the TIE2 gene) provides instructions for making a protein called TEK receptor tyrosine kinase.
  • 1.1K
  • 24 Dec 2020
Topic Review
CAKUT
Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.
  • 1.1K
  • 04 Jan 2021
Topic Review
Microphthalmia
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small.
  • 1.1K
  • 23 Dec 2020
Topic Review
Steatocystoma Multiplex
Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas.
  • 1.1K
  • 23 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type II
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 1.1K
  • 24 Dec 2020
Topic Review
Sitosterolemia
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
TH Gene
Tyrosine hydroxylase (TH): The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. 
  • 1.1K
  • 25 Dec 2020
Topic Review
CLPB Deficiency
CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.
  • 1.1K
  • 24 Dec 2020
Topic Review
CHD7 Gene
chromodomain helicase DNA binding protein 7
  • 1.1K
  • 24 Dec 2020
Topic Review
Chromosome 10
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Burn-McKeown Syndrome
Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.
  • 1.1K
  • 24 Dec 2020
Topic Review
SMA-LED
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles. Joint deformities (contractures) in the hips, knees, feet, and ankles can occur in SMA-LED, and in severe cases are present from birth and can impair walking. Some individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands. In most people with SMA-LED, the muscle problems are apparent in infancy or early childhood; however, about one-quarter of affected individuals do not develop muscle weakness until adulthood. The muscle weakness and related health problems typically do not worsen over time.
  • 1.1K
  • 23 Dec 2020
Topic Review
Inherited Retinal Diseases' RPE65 Variants
RPE65 is involved in the visual cycle, a multi-step process through which light entering the eye is converted into electrical signals transmitted to the brain. The absence or alterations of RPE65 leads to vision loss. This article aims to review the evidence for the genetic basis of RPE65 related Inherited retinal diseases with a particular focus on the most appropriate approaches to molecular testing of patients that represent possible candidates for the RPE65-gene supplementation therapy.
  • 1.1K
  • 22 Sep 2021
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