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Topic Review
SBDS Gene
SBDS, ribosome maturation factor
  • 862
  • 24 Dec 2020
Topic Review
SCN1A Gene
sodium voltage-gated channel alpha subunit 1
  • 862
  • 24 Dec 2020
Topic Review
ABCB11 Gene
ATP binding cassette subfamily B member 11
  • 862
  • 24 Dec 2020
Topic Review
NOTCH3 Gene
notch 3
  • 861
  • 24 Dec 2020
Topic Review
CLN1 Disease
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.
  • 861
  • 24 Dec 2020
Topic Review
Cartilage-Hair Hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.
  • 861
  • 24 Dec 2020
Topic Review
ELP1 Gene
Elongator complex protein 1: The ELP1 gene provides instructions for making a protein called elongator complex protein 1 (ELP1). 
  • 861
  • 24 Dec 2020
Topic Review
TRPV4 Gene
Transient receptor potential cation channel subfamily V member 4: The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. 
  • 861
  • 25 Dec 2020
Topic Review
Nonribosomal Peptide Synthetases in Animals
Nonribosomal peptide synthetases (NRPSs) synthesize a range of peptide products with a wide spectrum of biological functions including antibiotic and siderophore activities. They are used in industrial biotechnology to produce various pharmaceuticals such as cytostatics and immunosuppressants. NRPSs are widespread among both prokaryotes and eukaryotes.
  • 861
  • 18 Sep 2023
Topic Review
Hypochondrogenesis
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  • 860
  • 23 Dec 2020
Topic Review
Mandibulofacial Dysostosis with Microcephaly
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.
  • 859
  • 23 Dec 2020
Topic Review
LBR Gene
Lamin B receptor
  • 859
  • 23 Dec 2020
Topic Review
Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss.
  • 859
  • 23 Dec 2020
Topic Review
ABCC8 Gene
ATP binding cassette subfamily C member 8
  • 859
  • 24 Dec 2020
Topic Review
FKTN Gene
Fukutin: The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin. 
  • 859
  • 25 Dec 2020
Topic Review
Encephalocraniocutaneous Lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.
  • 859
  • 25 Dec 2020
Topic Review
Glycogen Storage Disease Type III
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
  • 858
  • 23 Dec 2020
Topic Review
MAPT Gene
Microtubule associated protein tau
  • 858
  • 23 Dec 2020
Topic Review
Immune Thrombocytopenia
Immune thrombocytopenia is a disorder characterized by a blood abnormality called thrombocytopenia, which is a shortage of blood cells called platelets that are needed for normal blood clotting.
  • 858
  • 31 Dec 2020
Topic Review
PCSK9 Gene
Proprotein convertase subtilisin/kexin type 9
  • 858
  • 04 Jan 2021
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