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Topic Review
SOST-Related Sclerosing Bone Dysplasia
SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis).
  • 856
  • 24 Dec 2020
Topic Review
EXT2 Gene
exostosin glycosyltransferase 2
  • 856
  • 24 Dec 2020
Topic Review
DCN Gene
Decorin
  • 856
  • 25 Dec 2020
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.
  • 855
  • 05 Oct 2020
Topic Review
Nonsyndromic Paraganglioma
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia.
  • 855
  • 24 Dec 2020
Topic Review
ASAH1 Gene
N-acylsphingosine amidohydrolase 1
  • 855
  • 24 Dec 2020
Topic Review
DES Gene
Desmin
  • 855
  • 24 Dec 2020
Topic Review
Rabson-Mendenhall Syndrome
Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 855
  • 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.
  • 855
  • 24 Dec 2020
Topic Review
COL1A2 Gene
collagen type I alpha 2 chain
  • 855
  • 24 Dec 2020
Topic Review
ERCC6 Gene
ERCC excision repair 6, chromatin remodeling factor
  • 855
  • 24 Dec 2020
Topic Review
AIP Gene
aryl hydrocarbon receptor interacting protein
  • 855
  • 24 Dec 2020
Topic Review
Update on Cellular Models of Striated Muscle Laminopathies
The lamin A/C gene (LMNA) codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms of the A-type lamins - lamins A and C. Mutations found throughout LMNA cause a group of diseases collectively known as laminopathies, of which the type, diversity, penetrance, and severity of phenotypes can vary from one individual to the other, even between individuals carrying the same mutation. The majority of laminopathies affect the cardiac and/or skeletal muscles. The underlying molecular mechanisms contributing to such tissue-specific phenotypes caused by mutations in a ubiquitously expressed gene are not yet well elucidated.
  • 855
  • 21 Feb 2023
Topic Review
Chloroplast DNA Barcodes
DNA barcodes are standardized sequences, ideally unique, coding or non-coding, either from the genome of the organism or from its organelles, that are used to identify/classify an organismal group; in short, the method includes amplification of the DNA barcode, sequencing and comparison with a reference database containing the relevant sequences from different species. In plants, the use a universal DNA barcode, such as COI, which is used in animals, has not been achieved so far. 
  • 855
  • 19 Feb 2024
Topic Review
RUNX2
runt related transcription factor 2
  • 854
  • 24 Dec 2020
Topic Review
CACNA1A Gene
calcium voltage-gated channel subunit alpha1 A
  • 854
  • 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.
  • 854
  • 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. 
  • 854
  • 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.
  • 854
  • 25 Dec 2020
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.
  • 854
  • 25 Dec 2020
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