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Topic Review
NIPBL Gene
NIPBL, cohesin loading factor
  • 677
  • 23 Dec 2020
Topic Review
Keratoconus
Keratoconus is an eye condition that affects the shape of the cornea, which is the clear outer covering of the eye.
  • 677
  • 23 Dec 2020
Topic Review
RAB3GAP1 Gene
RAB3 GTPase activating protein catalytic subunit 1
  • 677
  • 23 Dec 2020
Topic Review
DCXR Gene
Dicarbonyl and L-Xylulose Reductase: The DCXR gene provides instructions for making a protein called dicarbonyl and L-xylulose reductase (DCXR), which plays multiple roles in the body. 
  • 677
  • 23 Dec 2020
Topic Review
Palmoplantar Keratoderma with Deafness
Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss.
  • 677
  • 24 Dec 2020
Topic Review
Genomic Features of Ph-Like ALL
A wide spectrum of genetic alterations (>60), including translocations, cryptic rearrangements, sequence mutations and copy number changes have been described in Ph-like ALL, with slight differences in prevalence across age. These alterations drive constitutively active kinase or cytokine receptor signaling, many of which have been shown to be druggable with a variety of kinase inhibitors. The most commonly mutated pathways are the ABL and JAK-STAT pathways with multiple rearrangements and lesions that converge on downstream ABL/JAK-STAT signaling. Founder alterations may be grouped into three types: (i) JAK/STAT alterations including mutations activating cytokine receptors (e.g., CRLF2 and IL7R); gene fusions hijacking cytokine receptor expression (e.g., IGH-CRLF2 and P2RY8–CRLF2); gene fusions and/or mutations activating kinases (e.g., JAK1, JAK2, JAK3, TYK2); and rearrangements hijacking and truncating cytokine receptor expression (e.g., cryptic EPOR rearrangements); (ii) fusions involving ABL-class genes (ABL1, ABL2, CSF1R, LYN, PDGFRA, PDGFRB); (iii) less common fusions (FLT3, FGFR1, NTRK3, PTK2B) whose number is growing with increasing sequencing studies of different cohorts.
  • 677
  • 08 May 2021
Topic Review
PRPH2 Gene
peripherin 2
  • 677
  • 22 Dec 2020
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.
  • 676
  • 23 Dec 2020
Topic Review
Congenital Fiber-Type Disproportion
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement.
  • 676
  • 24 Dec 2020
Topic Review
CYP27A1 Gene
Cytochrome P450 Family 27 Subfamily A Member 1
  • 675
  • 23 Dec 2020
Topic Review
PSMB8 Gene
proteasome subunit beta 8
  • 675
  • 23 Dec 2020
Topic Review
ASXL1 Gene
ASXL transcriptional regulator 1
  • 675
  • 24 Dec 2020
Topic Review
MYH9
myosin heavy chain 9
  • 674
  • 23 Dec 2020
Topic Review
WNT10A Gene
WNT family member 10A.
  • 674
  • 24 Dec 2020
Topic Review
DOCK8 Gene
Dedicator of Cytokinesis 8
  • 674
  • 24 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. 
  • 674
  • 24 Nov 2022
Topic Review
KIF1B Gene
Kinesin family member 1B
  • 674
  • 23 Dec 2020
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.
  • 673
  • 23 Dec 2020
Topic Review
IL7R Gene
Interleukin 7 receptor
  • 673
  • 23 Dec 2020
Topic Review
Intrahepatic Cholestasis of Pregnancy
Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women.
  • 673
  • 23 Dec 2020
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