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Topic Review
Hereditary Colorectal Cancer Syndromes
Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Hereditary CRC syndromes account for approximately 5–10% of all CRC, with a lifetime risk of CRC that approaches 50–80% in the absence of endoscopic or surgical treatment. Hereditary CRC syndromes can be phenotypically divided into polyposis and non-polyposis syndrome, mainly according to the conditions of polyps. 
  • 861
  • 10 Feb 2023
Topic Review
Plant Elongator
Contrary to the conserved Elongator composition in yeast, animals, and plants, molecular functions and catalytic activities of the complex remain controversial. Elongator was identified as a component of elongating RNA polymerase II holoenzyme in yeast, animals, and plants. Furthermore, it was suggested that Elonagtor facilitates elongation of transcription via histone acetyl transferase activity. Accordingly, phenotypes of Arabidopsis elo mutants, which show development, growth, or immune response defects, correlate with transcriptional downregulation and the decreased histone acetylation in the coding regions of crucial genes. Plant Elongator was also implicated in other processes: transcription and processing of miRNA, regulation of DNA replication by histone acetylation, and acetylation of alpha-tubulin. Moreover, tRNA modification, discovered first in yeast and confirmed in plants, was claimed as the main activity of Elongator, leading to specificity in translation that might also result indirectly in a deficiency in transcription. Heterologous overexpression of individual Arabidopsis Elongator subunits and their respective phenotypes suggest that single Elongator subunits might also have another function next to being a part of the complex.
  • 860
  • 05 Oct 2020
Topic Review
Nonsyndromic Paraganglioma
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia.
  • 860
  • 24 Dec 2020
Topic Review
ASAH1 Gene
N-acylsphingosine amidohydrolase 1
  • 860
  • 24 Dec 2020
Topic Review
Craniofacial Microsomia
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures.
  • 860
  • 24 Dec 2020
Topic Review
CBFB Gene
core-binding factor subunit beta
  • 860
  • 24 Dec 2020
Topic Review
CLN11 Disease
CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.
  • 860
  • 24 Dec 2020
Topic Review
Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.
  • 860
  • 24 Dec 2020
Topic Review
SOST-Related Sclerosing Bone Dysplasia
SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis).
  • 860
  • 24 Dec 2020
Topic Review
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.
  • 860
  • 25 Dec 2020
Topic Review
GJB3 Gene
Gap junction protein beta 3
  • 860
  • 25 Dec 2020
Topic Review
PDGFB Gene
platelet derived growth factor subunit B
  • 860
  • 25 Dec 2020
Topic Review
Influence of Prenatal Methamphetamine Abuse on the Brain
Methamphetamine (MA), a psychostimulant, has become a serious problem in recent years. It is one of the most widely abused psychostimulants in the world.
  • 860
  • 29 Oct 2021
Topic Review
Familial Paroxysmal Nonkinesigenic Dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.
  • 860
  • 25 Dec 2020
Topic Review
Léri-Weill Dyschondrosteosis
Léri-Weill dyschondrosteosis is a disorder of bone growth.
  • 859
  • 24 Dec 2020
Topic Review
SUCLA2 Gene
Succinate-CoA ligase ADP-forming beta subunit: The SUCLA2 gene provides instructions for making one part (a beta subunit) of an enzyme called succinate-CoA ligase.
  • 859
  • 24 Dec 2020
Topic Review
COL1A2 Gene
collagen type I alpha 2 chain
  • 859
  • 24 Dec 2020
Topic Review
EDNRB Gene
Endothelin receptor type B: The EDNRB gene provides instructions for making a protein called endothelin receptor type B. 
  • 859
  • 24 Dec 2020
Topic Review
ERCC6 Gene
ERCC excision repair 6, chromatin remodeling factor
  • 859
  • 24 Dec 2020
Topic Review
ZMPSTE24 Gene
Zinc metallopeptidase STE24: the ZMPSTE24 gene provides instructions for making a protein that acts as a protease.
  • 858
  • 24 Dec 2020
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