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Topic Review
POU3F4 Gene
POU class 3 homeobox 4
  • 975
  • 25 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.
  • 975
  • 24 Dec 2020
Topic Review
FXN Gene
Frataxin
  • 974
  • 25 Dec 2020
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
  • 974
  • 22 Apr 2021
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.
  • 974
  • 11 Nov 2021
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.
  • 973
  • 23 Dec 2020
Topic Review
Factor V Deficiency
Factor V deficiency is a rare bleeding disorder.
  • 973
  • 25 Dec 2020
Topic Review
Conditional Liver-Specific Gene Expression System
Hydrodynamics-based gene delivery (HGD) is an efficient method for transfecting hepatocytes with plasmid DNA in vivo, but always associated with transient and non-tissue-specific expression of a gene of interest (GOI). piggyBac (PB) transposon system enables chromosomal integration of GOIs, and as a result long-term expression of GOI is possible. In this study, we combined these two technologies to enable liver-specific expression of GOI for a long time. Mice are first subjected to HGD with a PB transposase expression plasmid and a PB transposon containing the GOIs placed downstream of the stopper sequence flanked by loxP. When the same mice are next subjected to HGD with a liver-directed Cre expression plasmid, Cre-mediated excision of loxP-flanked stopper sequence in the chromosomally integrated transposon and subsequent expression of GOIs occur. This Cre/loxP-based regulatable gene switching system together with combined used of HGD and PB will be useful for in situ manipulation of hepatocyte genome in non-transgenic animals.
  • 972
  • 29 Oct 2020
Topic Review
Subcortical Band Heterotopia
Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development.
  • 972
  • 23 Dec 2020
Topic Review
Atelosteogenesis Type 3
Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Their hands and feet are wide, with broad fingers and toes that may be permanently bent (camptodactyly) or fused together (syndactyly). Characteristic facial features include a broad forehead, wide-set eyes (hypertelorism), and an underdeveloped nose. About half of affected individuals have an opening in the roof of the mouth (a cleft palate.)
  • 972
  • 24 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."
  • 972
  • 24 Dec 2020
Topic Review
ACTG2 Gene
actin, gamma 2, smooth muscle, enteric
  • 972
  • 24 Dec 2020
Topic Review
FECH Gene
Ferrochelatase: The FECH gene provides instructions for making an enzyme known as ferrochelatase. 
  • 972
  • 25 Dec 2020
Topic Review
CEBPA-Dependent Familial Acute Myeloid Leukemia
Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection; red blood cells (erythrocytes) that carry oxygen; and platelets (thrombocytes), which are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
  • 972
  • 04 Jan 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. 
  • 972
  • 16 Nov 2020
Topic Review
Terminal Osseous Dysplasia
Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not every condition in the spectrum has all of these features.  
  • 970
  • 23 Dec 2020
Topic Review
Baller-Gerold Syndrome
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.
  • 970
  • 24 Dec 2020
Topic Review
Mycobacterium tuberculosis and HIV-1: Evolution
This entry reviews the genetic evolution and adaptation to the host environment of M. tuberculosis and HIV-1. It provides an overview of the latest developments in the knowledge about the genetic diversity of these devastating intracellular human pathogens and its impact on the host immune system, virulence, drug resistance propensity and other relevant aspects. We also proposed a novel topic in the literature regarding the use of single cell "omics" to study the interacting evolutionary dynamics of M. tuberculosis and HIV-1 in co-infection, at the cellular niche of monocytes/macrophages.
  • 970
  • 20 Jan 2021
Topic Review
Spinal and Bulbar Muscular Atrophy
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).
  • 969
  • 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).
  • 969
  • 23 Dec 2020
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