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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.
  • 665
  • 30 Jun 2023
Topic Review
Hyaline Fibromatosis Syndrome
Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs.
  • 664
  • 23 Dec 2020
Topic Review
Intrahepatic Cholestasis of Pregnancy
Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women.
  • 664
  • 23 Dec 2020
Topic Review
KLHL3 Gene
Kelch like family member 3
  • 664
  • 23 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. 
  • 664
  • 22 Dec 2021
Topic Review
MYH9
myosin heavy chain 9
  • 663
  • 23 Dec 2020
Topic Review
NIPBL Gene
NIPBL, cohesin loading factor
  • 663
  • 23 Dec 2020
Topic Review
CYLD Gene
CYLD Lysine 63 Deubiquitinase
  • 663
  • 23 Dec 2020
Topic Review
Integrated Genetic Approaches for Nutritional Activities in Rice
The primary considerations in rice (Oryza sativa L.) production evoke improvements in the nutritional quality as well as production. Rice cultivars need to be developed to tackle hunger globally with high yield and better nutrition. The traditional cultivation methods of rice to increase the production by use of non-judicious fertilizers to fulfill the nutritional requirement of the masses. Scientific advancements in genetic resources provide many approaches for better understanding the molecular mechanisms encircled in a specific trait for its up- or down-regulation for opening new horizons for marker-assisted breeding of new rice varieties. In this perspective, genome-wide association studies, genome selection (GS) and QTL mapping are all genetic analysis that help in precise augmentation of specific nutritional enrichment in rice grain. Implementation of several omics techniques are effective approaches to enhance and regulate the nutritional quality of rice cultivars. Advancements in different types of omics including genomics and pangenomics, transcriptomics, metabolomics, nutrigenomics and proteomics are also relevant to rice development initiatives. 
  • 662
  • 24 Nov 2022
Topic Review
Hereditary Paraganglioma-Pheochromocytoma
Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia.
  • 661
  • 23 Dec 2020
Topic Review
Hereditary Neuralgic Amyotrophy
Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.
  • 661
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type IV
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.
  • 661
  • 23 Dec 2020
Topic Review
Craniofacial-Deafness-Hand Syndrome
Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.
  • 661
  • 24 Dec 2020
Topic Review
Inhibitor of Growth 1
The Inhibitor of Growth (ING) proteins constitute a family of tumor suppressors with five conserved genes in humans and mice, most of them producing several protein products through alternative splicing events.
  • 661
  • 04 Jul 2022
Topic Review
HTRA1 Gene
HtrA serine peptidase 1
  • 660
  • 23 Dec 2020
Topic Review
Microcephaly-Capillary Malformation Syndrome
Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
  • 660
  • 23 Dec 2020
Topic Review
KIF1B Gene
Kinesin family member 1B
  • 660
  • 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. 
  • 660
  • 23 Dec 2020
Topic Review
AVPR2 Gene
arginine vasopressin receptor 2
  • 660
  • 24 Dec 2020
Topic Review
Enhancers in the Heart
Enhancers positively influence the activity of its target gene by operating at long-range distances in either direction of the nucleotide sequence. Early heart development is tightly controlled by these cis-regulatory elements and mutations affecting them have been shown to result in devastating forms of congenital heart defect. Therefore, identifying enhancers implicated in heart biology and understanding their mechanism is key to improve diagnosis and therapeutic options.
  • 660
  • 21 Apr 2021
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