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Topic Review
PIK3R1 Gene
phosphoinositide-3-kinase regulatory subunit 1
  • 954
  • 25 Dec 2020
Topic Review
PNPLA3 Gene
patatin like phospholipase domain containing 3
  • 954
  • 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
  • 954
  • 22 Apr 2021
Topic Review
Strategies for Folate Biofortification in Soybean
Folate (vitamin B9) is an essential water-soluble vitamin in plants and microorganisms that plays a role in one-carbon metabolism. It functions as a cofactor in the synthesis of nucleic acids, metabolism of amino acids, and methylation of hormones, lipids, proteins, and chlorophyll. Folate is particularly important for cell division in pregnant and lactating women. However, humans cannot synthesise folate de novo and must obtain it from dietary sources, such as crops, animal-based foods, or nutritional supplements. 
  • 954
  • 31 Jan 2023
Topic Review
TSHR Gene
thyroid stimulating hormone receptor
  • 953
  • 23 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. 
  • 953
  • 25 Dec 2020
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).
  • 952
  • 23 Dec 2020
Topic Review
Crouzon Syndrome with Acanthosis Nigricans
Crouzon syndrome with acanthosis nigricans is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.mas.
  • 952
  • 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.
  • 952
  • 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.
  • 952
  • 04 Jan 2021
Topic Review
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.
  • 951
  • 23 Dec 2020
Topic Review
Alpha Thalassemia
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.
  • 951
  • 24 Dec 2020
Topic Review
Cleidocranial Dysplasia
Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.
  • 951
  • 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."
  • 951
  • 24 Dec 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.
  • 950
  • 23 Dec 2020
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).
  • 950
  • 23 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.
  • 950
  • 24 Dec 2020
Topic Review
Factors to Improve Healthy Reproduction
Humans’ health is the result of a complex and balanced interplay between genetic factors, environmental stimuli, lifestyle habits, and the microbiota composition. The knowledge about their single contributions, as well as the complex network linking each to the others, is pivotal to understand the mechanisms underlying the onset of many diseases and can provide key information for their prevention, diagnosis and therapy. This applies also to reproduction. Reproduction, involving almost 10% of our genetic code, is one of the most critical human’s functions and is a key element to assess the well-being of a population. The last decades revealed a progressive decline of reproductive outcomes worldwide. As a consequence, there is a growing interest in unveiling the role of the different factors involved in human reproduction and great efforts have been carried out to improve its outcomes. As for many other diseases, it is now clear that the interplay between the underlying genetics, our commensal microbiome, the lifestyle habits and the environment we live in can either exacerbate the outcome or mitigate the adverse effects.
  • 950
  • 28 Apr 2021
Topic Review
Channelopathy Genes in Pulmonary Arterial Hypertension
Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Roles for rare variants in three channelopathy genes—ABCC8, ATP13A3, and KCNK3—have been validated in multiple PAH cohorts, and in aggregate explain ~2.7% of PAH cases. Complete or partial loss of function has been demonstrated for PAH-associated variants in ABCC8 and KCNK3. Channels can be excellent targets for drugs, and knowledge of mechanisms for channel mutations may provide an opportunity for the development of PAH biomarkers and novel therapeutics for patients with hereditary PAH but also potentially more broadly for all patients with PAH.
  • 950
  • 28 Feb 2022
Topic Review
Dissecting Polygenic Etiology of Ischemic Stroke
Ischemic stroke (IS), the leading cause of death and disability worldwide, is caused by many modifiable and non-modifiable risk factors. This complex disease is also known for its multiple etiologies with moderate heritability. Polygenic risk scores (PRSs), which have been used to establish a common genetic basis for IS, may contribute to IS risk stratification for disease/outcome prediction and personalized management. Statistical modeling and machine learning algorithms have contributed significantly to this field. For instance, multiple algorithms have been successfully applied to PRS construction and integration of genetic and non-genetic features for outcome prediction to aid in risk stratification for personalized management and prevention measures. PRS derived from variants with effect size estimated based on the summary statistics of a specific subtype shows a stronger association with the matched subtype. The disruption of the extracellular matrix and amyloidosis account for the pathogenesis of cerebral small vessel disease (CSVD). Pathway-specific PRS analyses confirm known and identify novel etiologies related to IS.
  • 950
  • 20 Oct 2022
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