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Topic Review
Niemann–Pick Disease
Niemann–Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene SMPD1 coding for sphingomyelin phosphodiesterase 1, with a consequent lack of acid sphingomyelinase activity. These diseases have been thus classified as acid sphingomyelinase deficiencies (ASMDs). NPD type C is a neurologic disorder due to mutations in the genes NPC1 or NPC2, causing a defect of cholesterol trafficking and esterification. Although all three types of NPD can manifest with pulmonary involvement, lung disease occurs more frequently in NPD type B, typically with interstitial lung disease, recurrent pulmonary infections, and respiratory failure.
  • 858
  • 22 Feb 2024
Topic Review
CBFB Gene
core-binding factor subunit beta
  • 857
  • 24 Dec 2020
Topic Review
X-linked Congenital Stationary Night Blindness
X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder.  
  • 857
  • 24 Dec 2020
Topic Review
THPO Gene
Thrombopoietin: The THPO gene provides instructions for making a protein called thrombopoietin that promotes the growth and division (proliferation) of cells. 
  • 857
  • 25 Dec 2020
Topic Review
POMT1 Gene
protein O-mannosyltransferase 1
  • 857
  • 25 Dec 2020
Topic Review
NSCLC Concurrent EGFR Genomic Alterations
Non-small cell lung cancer (NSCLC) accounts for roughly 85–90% of overall cases of lung malignancies and includes different histological subtypes. The treatment landscape of NSCLC has been terrifically changed by the discovery of Epidermal Growth Factor Receptor (EGFR) mutations and their response to the EGFR tyrosine kinase inhibitors (TKIs). EGFR gene aberrations have been defined as oncogenic driver mutations which occurred in 5–17% of lung adenocarcinomas among Caucasian patients, while in approximately 45–55% of the Asian population. Nowadays, EGFR-TKIs are the standard of care for patients affected by advanced EGFR-mutated NSCLC considering their established prolonged progression-free survival (PFS) in comparison to the standard chemotherapy approach. However, TKIs clinical efficacy remains restricted due to the development of resistance, which has been hardly clarified. The recent technological breakthrough and the advent of next-generation sequencing (NGS) platforms have enabled comprehensive profiling of the genome, providing novel evidence of co-existing multiple driver alterations.
  • 857
  • 22 Jun 2021
Topic Review
MN1 Gene
MN1 proto-oncogene, transcriptional regulator
  • 856
  • 22 Dec 2020
Topic Review
Léri-Weill Dyschondrosteosis
Léri-Weill dyschondrosteosis is a disorder of bone growth.
  • 856
  • 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.
  • 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
PDE6C Gene
phosphodiesterase 6C
  • 856
  • 25 Dec 2020
Topic Review
Exosomal microRNA in Pancreatic Cancer
Pancreatic cancer is a highly aggressive and lethal malignancy mostly due to its late-stage presentation. This malignancy is difficult to diagnose, monitor, and treat, hence the development of novel diagnostic and prognostic biomarkers and better therapeutic strategies are urgently needed. Several groundbreaking discoveries over the past decade on cancer-associated exosomes demonstrated an association between exosomal miRNA and the development, progression, and therapy-resistance of pancreatic cancer.
  • 856
  • 29 Jun 2021
Topic Review
DFNB1
Most DFNB1 phenotypes are described as prelingual and bilateral non-syndromic hearing loss, this being severe to profound. This type of deafness affects all frequencies and is not associated with inner ear malformations.
  • 856
  • 30 Aug 2021
Topic Review
Vascular Anomalies
Vascular anomalies include various diseases, which are classified into two types according to the International Society for the Study of Vascular Anomalies (ISSVA) classification: vascular tumors with proliferative changes of endothelial cells, and vascular malformations primarily consisting of structural vascular abnormalities. Vascular lesions had been habitually termed ‘hemangioma’ or ‘angioma’ in both Japan and Europe/the United States based on the impression that most anomalies are ‘tumors’. On the contrary, hemangioma simplex and cavernous hemangioma, for example, are actually morphological abnormalities of capillary blood vessels or veins, respectively, despite the disease name “hemangioma”. These diseases differ from tumors in a narrow sense, which refers to autonomous cell proliferation. In addition to such problems with disease naming and nomenclature, vascular lesions can occur at various ages and in various organs, meaning they may require treatment in various hospital departments, so improved common terms/language are essential for mutual understanding.
  • 856
  • 11 Mar 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.
  • 855
  • 05 Oct 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.
  • 855
  • 23 Dec 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.
  • 855
  • 23 Dec 2020
Topic Review
ASAH1 Gene
N-acylsphingosine amidohydrolase 1
  • 855
  • 24 Dec 2020
Topic Review
DES Gene
Desmin
  • 855
  • 24 Dec 2020
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