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deCODE discovered the link between type 2 diabetes (T2D) and variants in the TCF7L2 gene, [107] the most important common known genetic risk factor known, and variants in the CDKAL1 and other genes linked to insulin response and both increased and decreasednT2D risk. [108]
14415 Ensembl ENSG00000128683 ENSMUSG00000070880 UniProt Q99259 P48318 RefSeq (mRNA) NM_000817 NM_013445 NM_008077 NM_001312900 RefSeq (protein) NP_000808 NP_038473 NP_001299829 NP_032103 Location (UCSC) Chr 2: 170.81 – 170.86 Mb Chr 2: 70.38 – 70.43 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human ...
deCODE genetics (Icelandic: Íslensk erfðagreining) is a biopharmaceutical company based in Reykjavík, Iceland.The company was founded in 1996 by Kári Stefánsson [1] with the aim of using population genetics studies to identify variations in the human genome associated with common diseases, and to apply these discoveries "to develop novel methods to identify, treat and prevent diseases."
Phenol sulfur transferase deficiency, in short PST deficiency, is the lack or the reduced activity of the functional enzyme phenol sulfur transferase, which is crucial in the detoxification of mainly phenolic compounds by catalysing the sulfate conjugation of the hydroxyl groups in the toxic phenolic compounds to result in more hydrophilic forms for more efficient excretion.
The thrifty gene hypothesis, or Gianfranco's hypothesis [citation needed] is an attempt by geneticist James V. Neel to explain why certain populations and subpopulations in the modern day are prone to diabetes mellitus type 2. He proposed the hypothesis in 1962 to resolve a fundamental problem: diabetes is clearly a very harmful medical ...
Gene like APOM and APM1 increase the risk of type 2 diabetes when there are SNPs in their proximal promoter regions. Promoters are sequences of DNA that allows proteins such as transcription factors to bind for gene expression, and when the sequences are modified, the proteins no longer bind as effectively, resulting in depressed level of gene ...
MODY accounts for at least 1-5% of all diagnoses of diabetes mellitus, though 50-90% of cases are estimated to be misdiagnosed as type 1, or type 2 diabetes [4].Estimated prevalence rates indicate 1 per 10,000 in adults, and 1 per 23,000 in children [5]. 50% of first-degree relatives will inherit the same mutation, giving them a greater than 95% lifetime risk of developing MODY themselves. [6]
The main goal of diabetes management is to keep blood glucose (BG) levels as normal as possible. [1] If diabetes is not well controlled, further challenges to health may occur. [1] People with diabetes can measure blood sugar by various methods, such as with a BG meter or a continuous glucose monitor, which monitors over several days. [2]