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Topic Review
LBR Gene
Lamin B receptor
  • 863
  • 23 Dec 2020
Topic Review
ABCC8 Gene
ATP binding cassette subfamily C member 8
  • 863
  • 24 Dec 2020
Topic Review
EXT2 Gene
exostosin glycosyltransferase 2
  • 863
  • 24 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.
  • 862
  • 23 Dec 2020
Topic Review
MN1 Gene
MN1 proto-oncogene, transcriptional regulator
  • 862
  • 22 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.
  • 862
  • 24 Dec 2020
Topic Review
CACNA1A Gene
calcium voltage-gated channel subunit alpha1 A
  • 862
  • 24 Dec 2020
Topic Review
PDE6C Gene
phosphodiesterase 6C
  • 862
  • 25 Dec 2020
Topic Review
Cis-Regulatory Elements in Mammals
In cis-regulatory elements, enhancers and promoters with complex molecular interactions are used to coordinate gene transcription through physical proximity and chemical modifications. These processes subsequently influence the phenotypic characteristics of an organism. An in-depth exploration of enhancers and promoters can substantially enhance researchers' understanding of gene regulatory networks, shedding new light on mammalian development, evolution and disease pathways.
  • 862
  • 18 Jan 2024
Topic Review
GNE Gene
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • 861
  • 23 Dec 2020
Topic Review
AIP Gene
aryl hydrocarbon receptor interacting protein
  • 861
  • 24 Dec 2020
Topic Review
DCN Gene
Decorin
  • 861
  • 25 Dec 2020
Topic Review
DNA Repair in Human Germ Cells
DNA repair is a well-covered topic as alteration of genetic integrity underlies many pathological conditions and important transgenerational consequences. Maintenance of genome integrity is a permanent cell challenge as both intra- and extracellular conditions can lead to chemical alterations of nucleotides or their sequence. Proper repair mechanisms have evolved so as to maintain a balance between maintenance of cellular function and adaptative processes improving fitness. For obvious reasons, germline cells must be especially proficient at this task as diversity must be transmitted while maintaining the gametes’ integrity through the many differentiation steps.
  • 861
  • 09 Feb 2022
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
GM2-Gangliosidosis, AB Variant
GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 860
  • 23 Dec 2020
Topic Review
Myhre Syndrome
Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age.
  • 860
  • 23 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
GJB3 Gene
Gap junction protein beta 3
  • 860
  • 25 Dec 2020
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