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Topic Review
Gestational Diabetes
Gestational diabetes is a disorder characterized by abnormally high blood sugar levels during pregnancy.
  • 964
  • 12 Jan 2021
Topic Review
Kleefstra Syndrome
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia).
  • 964
  • 23 Dec 2020
Topic Review
Periventricular Heterotopia
Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy.
  • 964
  • 24 Dec 2020
Topic Review
TOR1A Gene
Torsin family 1 member A: The TOR1A gene (also known as DYT1) provides instructions for making a protein called torsinA. 
  • 964
  • 25 Dec 2020
Topic Review
New Gene Origination in a Special Fish Lineage
Origin of new genes are of inherent interest of evolutionary geneticists for decades, but few studies have addressed general pattern of origin of new genes in a fish lineage. Flatfishes evolved one of the most specialized and asymmetric body plans in vertebrates. Providing recent released whole genome data that well represent ingroup and outgroup species, 1541 flatfish-lineage-specific genes were identified with the synteny-based pipeline. The origination pattern of these flatfish new genes is largely similar to those observed in other vertebrates, and they were mainly originated through DNA-mediated duplication, with some RNA-mediated duplication (retrogenes) or de novo genes.
  • 964
  • 25 Nov 2021
Topic Review
Bone Morphogenetic Protein Receptor 2
Bone Morphogenetic Protein Receptor 2 (BMPR2) are the most common genetic factor in hereditary forms of PAH, suggesting that the BMPR2 pathway is fundamentally important in the pathogenesis
  • 963
  • 22 Apr 2021
Topic Review
MicroRNAs-Based Therapeutic Strategies in TNBC
Triple Negative breast cancer is unresponsive to endocrine therapy, i.e., tamoxifen, aromatase inhibitors, and/or anti-HER2-targeted therapies. As there are currently no other therapeutic options to treat TNBC apart from chemotherapy, various studies were reviewed to draw the conclusion that ncRNAs might be candidates for drug development and drug resistance. Targeted approaches to epigenetic mechanisms and clarification of the molecular mechanisms of specific miRNAs in TNBC subtypes are fully justified. Currently, TNBC with BLP is the only subtype for which we might suggest some therapeutic hypotheses based on miRNA/mRNA integration. This review might provide a collection of biomarkers potentially useful in clinical settings and shows that the combination of miRNA-based therapeutic strategies with conventional therapies might synergize anticancer effects improving patient outcome. 
  • 962
  • 16 Nov 2020
Topic Review
Cornelia de Lange Syndrome
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
  • 962
  • 24 Dec 2020
Topic Review
ACTG2 Gene
actin, gamma 2, smooth muscle, enteric
  • 962
  • 24 Dec 2020
Topic Review
Dihydropyrimidinase Deficiency
Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing.
  • 962
  • 24 Dec 2020
Topic Review
Essential Tremor
Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or symptoms. However, some experts think that essential tremor can include additional features, such as mild balance problems.
  • 962
  • 25 Dec 2020
Topic Review
GCDH Gene
Glutaryl-CoA dehydrogenase
  • 962
  • 25 Dec 2020
Topic Review
PIK3R1 Gene
phosphoinositide-3-kinase regulatory subunit 1
  • 962
  • 25 Dec 2020
Topic Review
PNPLA6 Gene
patatin like phospholipase domain containing 6
  • 962
  • 25 Dec 2020
Topic Review
Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas
Paragangliomas and pheochromocytomas (PPGLs) are rare neuroendocrine tumors formed from paraganglionic tissue. Since 2017, PPGLs have been classified as tumors with variable potential to metastasize. Metastasizing PPGLs are usually difficult to diagnose and require evidence of regional or distant metastasis. Data on diagnostic and prognostic molecular markers for PPGL malignancy are limited, and many of the proposed factors remain controversial. There is a significant gap in the understanding of tumor pathogenesis, as well as the treatment and management of patients with PPGLs. This entry summarized the current findings on the potential markers for distinguishing between metastasizing and benign tumors, as well as on the prediction of aggressive behavior of PPGLs, especially of those localized in the head and neck region.
  • 962
  • 11 Nov 2021
Topic Review
CBAS1
Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.
  • 962
  • 04 Jan 2021
Topic Review
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). Studies of Tbx1-mutant mice have provided insights into the underlying pathogenesis of DGS/VCFS and the knowledge to diagnose patients with DGS/VCFS. Genes, miRNAs, and epigenetics could change Tbx1 expression. Polymorphisms, variations, and mutations in TBX1 may induce the penetrance and severity of DGS/VCFS-like craniofacial phenotypes. The molecular basis of the variant sequence of TBX1 will further define how TBX1 contributes to the craniofacial and other phenotypes of DGS/VCFS. Since interactions with TBX1 and other molecules in transcriptional complexes or chromatin remodeling are crucial for TBX1 function, identifying and understanding these genetic and epigenetic modifiers individually for each patient may direct therapeutics to minimize the severity.
  • 962
  • 27 May 2022
Topic Review
Intranuclear Rod Myopathy
Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 961
  • 23 Dec 2020
Topic Review
Kaufman Oculocerebrofacial Syndrome
Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial).
  • 961
  • 23 Dec 2020
Topic Review
Autosomal Recessive Primary Microcephaly
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."
  • 961
  • 24 Dec 2020
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