Synonyms for gnaq or Related words with gnaq
Examples of "gnaq"
RGS16 has been shown to interact with
RIC8A has been shown to interact with GNAO1, GNA13,
, GNAS complex locus, GNAI2, GNAI1 and GNAI3.
Port-wine stains were shown to be caused by a somatic activating c.548G→A mutation in the
gene. An association with RASA1 has also been described.
Guanine nucleotide-binding protein subunit alpha-11 is a protein that in humans is encoded by the "GNA11" gene. Together with
(its paralogue), it functions as a Gq alpha subunit.
Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the "
" gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.
Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary cause). It is caused by a somatic activating mutation occurring in the
gene. Radiological findings will show tram track calcifications on CT, bilaterally.
The blood vessel formations associated with SWS start when a baby is in the womb. Around the sixth week of development, a network of nerves develops around the area that will become a baby’s head. Normally, this network goes away in the ninth week of development. In babies with SWS due to mutation of gene
. This network of nerves doesn’t go away. This reduces the amount of oxygen and blood flowing to the brain, which can affect brain tissue development.
Benign melanocytic tumors of the choroid, such as choroidal freckles and nevi, are very common and pose no health risks, unless they show signs of malignancy, in which case they are considered melanomas. Uveal melanoma is distinct from most skin melanomas associated with ultraviolet exposure; however, it shares several similarities with non-sun-exposed melanomas, such as acral melanomas and mucosal melanomas. BRAF mutations are extremely rare in posterior uveal melanomas; instead, uveal melanomas frequently harbor
/GNA11 mutations, a trait shared with blue nevi, Nevus of Ota, and Ocular melanosis. As seen in BRAF, mutations in
/GNA11 are early events in tumorigenesis and are not prognostic for tumor stage or later metastatic spread. In contrast, mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival. Incidence of posterior uveal melanoma is highest among people with light skin and blue eyes. Other risk factors, such as blue light exposure and arc welding have been put forward, but are still debated in the field. Mobile phone use is not a risk factor for uveal melanoma.
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