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Topic Review
PHKB Gene
phosphorylase kinase regulatory subunit beta
  • 839
  • 25 Dec 2020
Topic Review
Economically Relevant Traits Related Candidate Genes in Caprine
Despite their pivotal position as relevant sources for high-quality proteins in particularly hard environmental contexts, the domestic goat has not benefited from the advances made in genomics compared to other livestock species. Genetic analysis based on the study of candidate genes is considered an appropriate approach to elucidate the physiological mechanisms involved in the regulation of the expression of functional traits. This is especially relevant when such functional traits are linked to economic interest. The knowledge of candidate genes, their location on the goat genetic map and the specific phenotypic outcomes that may arise due to the regulation of their expression act as a catalyzer for the efficiency and accuracy of goat-breeding policies, which in turn translates into a greater competitiveness and sustainable profit for goats worldwide. 
  • 839
  • 19 Apr 2022
Topic Review
TSHB Gene
thyroid stimulating hormone beta
  • 838
  • 23 Dec 2020
Topic Review
CYP19A1 Gene
Cytochrome P450 Family 19 Subfamily A Member 1
  • 838
  • 23 Dec 2020
Topic Review
Autoimmune Lymphoproliferative Syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).
  • 838
  • 24 Dec 2020
Topic Review
FAH Gene
Fumarylacetoacetate hydrolase: The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. 
  • 838
  • 25 Dec 2020
Topic Review
GJB1 Gene
Gap junction protein beta 1
  • 838
  • 25 Dec 2020
Topic Review
Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.
  • 838
  • 24 Dec 2020
Topic Review
Pyruvate Carboxylase Deficiency
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
  • 837
  • 24 Dec 2020
Topic Review
CDKN1B Gene
cyclin dependent kinase inhibitor 1B
  • 837
  • 24 Dec 2020
Topic Review
Schwannomatosis
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves.
  • 837
  • 24 Dec 2020
Topic Review
Multiple Endocrine Neoplasia
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.
  • 837
  • 23 Dec 2020
Topic Review
GNPTAB Gene
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • 836
  • 22 Dec 2020
Topic Review
PRPS1 Gene
phosphoribosyl pyrophosphate synthetase 1
  • 836
  • 22 Dec 2020
Topic Review
Giant Axonal Neuropathy
Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons.
  • 836
  • 23 Dec 2020
Topic Review
BRCA1 Gene
BRCA1, DNA repair associated
  • 836
  • 24 Dec 2020
Topic Review
Opioid Addiction
Opioid addiction is a long-lasting (chronic) disease that can cause major health, social, and economic problems. Opioids are a class of drugs that act in the nervous system to produce feelings of pleasure and pain relief. Some opioids are legally prescribed by healthcare providers to manage severe and chronic pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, such as heroin, are illegal drugs of abuse.
  • 835
  • 24 Dec 2020
Topic Review
CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.
  • 835
  • 24 Dec 2020
Topic Review
CDH1 Gene
cadherin 1
  • 835
  • 24 Dec 2020
Topic Review
PANK2 Gene
pantothenate kinase 2
  • 835
  • 25 Dec 2020
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