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Topic Review
RAG2 Gene
recombination activating 2
  • 673
  • 23 Dec 2020
Topic Review
Recurrent Hydatidiform Mole
Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles.
  • 673
  • 24 Dec 2020
Topic Review
Circulating Fetal Cells for NIPD
Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. 
  • 673
  • 22 Dec 2021
Topic Review
RNF213 Gene
ring finger protein 213
  • 672
  • 24 Dec 2020
Topic Review
CYLD Gene
CYLD Lysine 63 Deubiquitinase
  • 671
  • 23 Dec 2020
Topic Review
RRM2B Gene
ribonucleotide reductase regulatory TP53 inducible subunit M2B
  • 671
  • 24 Dec 2020
Topic Review
ERCC8 Gene
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
  • 671
  • 24 Dec 2020
Topic Review
Physiology of Glycosylphosphatidylinositol-Anchored Proteins II
Glycosylphosphatidylinositol (GPI)-anchored proteins (APs) are anchored at the outer leaflet of the plasma membrane (PM) bilayer by covalent linkage to a typical glycolipid and expressed in all eukaryotic organisms so far studied. Lipolytic release from PMs into extracellular compartments and intercellular transfer are regarded as the main (patho)physiological roles exerted by GPI-APs.
  • 671
  • 30 Jun 2023
Topic Review
HIVEP2-Related Intellectual Disability
HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features).
  • 670
  • 23 Dec 2020
Topic Review
HTRA1 Gene
HtrA serine peptidase 1
  • 670
  • 23 Dec 2020
Topic Review
KLHL3 Gene
Kelch like family member 3
  • 670
  • 23 Dec 2020
Topic Review
RHO Gene
rhodopsin
  • 670
  • 24 Dec 2020
Topic Review
Subcellular Localization of the Asp/ASPM Proteins
Investigations on different cell types showed that Asp (Drosophila abnormal spindle)/Aspm/ASPM (Abnormal Spindle-like Microcephaly-associated; or MCPH5) depletion disrupts one or more of the following mitotic processes: aster formation, spindle pole focusing, centrosome-spindle coupling, spindle orientation, metaphase-to-anaphase progression, chromosome segregation, and cytokinesis.
  • 670
  • 31 Mar 2023
Topic Review
Craniofacial-Deafness-Hand Syndrome
Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.
  • 670
  • 24 Dec 2020
Topic Review
MYH11 Gene
myosin heavy chain 11
  • 669
  • 23 Dec 2020
Topic Review
CYP11B1 Gene
Cytochrome P450 Family 11 Subfamily B Member 1: The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. 
  • 669
  • 23 Dec 2020
Topic Review
LHCGR Gene
Luteinizing hormone/choriogonadotropin receptor
  • 669
  • 23 Dec 2020
Topic Review
AVPR2 Gene
arginine vasopressin receptor 2
  • 669
  • 24 Dec 2020
Topic Review
Microphthalmia Family Translocation Renal Cell Carcinoma
The microphthalmia-associated transcription factor/transcription factor E (MiT/TFE) family of transcription factors are evolutionarily conserved, basic helix–loop–helix leucine zipper (bHLH-Zip) transcription factors, consisting of MITF, TFEB, TFE3, and TFEC. MiT/TFE proteins, with the exception of TFEC, are involved in the development of renal cell carcinoma (RCC). Most of the MiT/TFE transcription factor alterations seen in sporadic RCC cases of MiT family translocation renal cell carcinoma (tRCC) are chimeric proteins generated by chromosomal rearrangements. These chimeric MiT/TFE proteins retain the bHLH-Zip structures and act as oncogenic transcription factors. 
  • 669
  • 16 Jan 2023
Topic Review
Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe.
  • 668
  • 23 Dec 2020
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