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Topic Review
EXT2 Gene
exostosin glycosyltransferase 2
  • 874
  • 24 Dec 2020
Topic Review
TREM2 Gene
Triggering receptor expressed on myeloid cells 2: The TREM2 gene provides instructions for making a protein called triggering receptor expressed on myeloid cells 2.
  • 874
  • 25 Dec 2020
Topic Review
Nonsyndromic Paraganglioma
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia.
  • 873
  • 24 Dec 2020
Topic Review
CACNA1A Gene
calcium voltage-gated channel subunit alpha1 A
  • 873
  • 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). 
  • 873
  • 24 Dec 2020
Topic Review
GJB3 Gene
Gap junction protein beta 3
  • 873
  • 25 Dec 2020
Topic Review
MicroRNA-Target Interaction Regulatory Network
Alzheimer’s Disease (AD) is a progressive neurodegenerative disorder and the most common cause of dementia; however, early diagnosis of the disease is challenging. Research suggests that biomarkers found in blood, such as microRNAs (miRNA), may be promising for AD diagnostics. Experimental data on miRNA–target interactions (MTI) associated with AD are scattered across databases and publications, thus making the identification of promising miRNA biomarkers for AD difficult. In response to this, a list of experimentally validated AD-associated MTIs was obtained from miRTarBase. Cytoscape was used to create a visual MTI network. STRING software was used for protein–protein interaction analysis and mirPath was used for pathway enrichment analysis. Several targets regulated by multiple miRNAs were identified, including: BACE1, APP, NCSTN, SP1, SIRT1, and PTEN. The miRNA with the highest numbers of interactions in the network were: miR-9, miR-16, miR-34a, miR-106a, miR-107, miR-125b, miR-146, and miR-181c. The analysis revealed seven subnetworks, representing disease modules which have a potential for further biomarker development. The obtained MTI network is not yet complete, and additional studies are needed for the comprehensive understanding of the AD-associated miRNA targetome. 
  • 873
  • 08 Dec 2021
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.
  • 872
  • 23 Dec 2020
Topic Review
SMARD1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy.
  • 872
  • 23 Dec 2020
Topic Review
Hirschsprung Disease
Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine.
  • 872
  • 23 Dec 2020
Topic Review
LBR Gene
Lamin B receptor
  • 872
  • 23 Dec 2020
Topic Review
Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
  • 872
  • 23 Dec 2020
Topic Review
RUNX2
runt related transcription factor 2
  • 872
  • 24 Dec 2020
Topic Review
CLCN1 Gene
chloride voltage-gated channel 1
  • 872
  • 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.
  • 872
  • 24 Dec 2020
Topic Review
ABCC8 Gene
ATP binding cassette subfamily C member 8
  • 872
  • 24 Dec 2020
Topic Review
PDE6C Gene
phosphodiesterase 6C
  • 872
  • 25 Dec 2020
Topic Review
POMT1 Gene
protein O-mannosyltransferase 1
  • 872
  • 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.
  • 872
  • 09 Feb 2022
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.
  • 871
  • 24 Dec 2020
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