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Topic Review
Chromosome 8
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 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
FLG Gene
Filaggrin
  • 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
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
Epilepsy-aphasia Spectrum
The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia).
  • 1.1K
  • 25 Dec 2020
Topic Review
Mutations in GHR and IGF1R Genes
The birth size of a newborn child is influenced by a number of factors. The main ones are genetic factors of the fetus and the intrauterine environment. These factors interact with each other, and the effect of this interaction is seen as the birth weight, length, body composition, and organ size. From conception to delivery, the fetus is under the influence of the mother’s organism, which is the environment for the developing organism. The capacity of the uterus corresponds to the mother’s height and it is one of the main determinants of the fetus’s size. In addition, the birth size of the fetus can be influenced by the nutritional status of the mother, which provides nutrients to developing organisms.
  • 1.1K
  • 30 May 2022
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
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
X-linked Hyper IgM Syndrome
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males.
  • 1.1K
  • 24 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
Hereditary Angioedema
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway.
  • 1.1K
  • 23 Dec 2020
Topic Review
CHD7 Gene
chromodomain helicase DNA binding protein 7
  • 1.1K
  • 24 Dec 2020
Topic Review
Cytogenetic Variability in Festuca (Poaceae)
Polyploidy has played an important evolutionary role in the genus Festuca (Poaceae), and several ploidy levels (ranging from 2n = 2x = 14 to 2n = 12x = 84) have been detected to date. Our understanding of ploidy diversity has greatly improved over the last two decades owing to the usage of flow cytometry (FCM). This valuable method makes it possible to not only estimate the genome size in a large number of individuals and populations but also infer ploidy levels. FCM has been used successfully in Festuca and its use is very useful in detecting a possible overlooked cytogenetic diversity that is generally manifested in the morphological variability exhibited in some of its taxa.
  • 1.1K
  • 18 Feb 2022
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
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
ZMYM2 Gene
Zinc finger MYM-type containing 2
  • 1.1K
  • 24 Dec 2020
Topic Review
Bosma Arhinia Microphthalmia Syndrome
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.
  • 1.1K
  • 24 Dec 2020
Topic Review
Mutational Signatures in Gastric Cancer
Gastric cancer is characterised by high inter- and intratumour heterogeneity. The majority of patients are older than 65 years and the global burden of this disease is increasing due to the aging of the population. The disease is usually diagnosed at advanced stages, which is a consequence of nonspecific symptoms. A new field of mutational signatures has emerged in the past decade with advances in the genome sequencing technology. These distinct mutational patterns in the genome, caused by exogenous and endogenous mutational processes, can be associated with tumour aetiology and disease progression, and could provide novel perception on the treatment possibilities. 
  • 1.1K
  • 06 Nov 2023
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