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Two heterozygous GCK mutations located on the same allele (p.Leu77Arg and p.Val101Met) were identified in a MODY family.
An obese person with a MODY gene mutation may develop symptoms of diabetes sooner than someone of normal weight.
The HNF1B gene encodes a transcription factor and it was initially identified as a MODY gene[13].
Under this scenario, a MODY prevalence of 8% led to an ICER of ∼50,000 USD/QALY.
This equates to a positive predictive value (PPV) of 2.7% and a negative predictive value (NPV) of 99.7%, assuming a MODY prevalence of 1% (7).
Ideally such a test would be highly specific for a MODY subtype and would allow differentiation between type 1 and type 2 diabetes.
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These genes are HNF4A (hepatocyte nuclear factor 4, alpha) in MODY-1, HNF1A (homeoboxeobox A) in MODY-3, HNF1B (homeoboxeoBox B) in MODY-5, PDX1 (pancreatic and duodenal homeobox 1; formerly known as IPF1) in MODY-4, NEUROD1 (neurogenic differentiation 1; also known as NeuroD and BETA2) in MODY-6, and KLF1 [Kruppel-like factor 1 (erythroid)] in MODY-7.
Anantharaju A, Kamath G, Mody P, Nooji D. Prosthetic rehabilitation of oro-nasal defect.
As there are families with a MODY-like phenotype of unknown cause, we anticipate that ongoing genetic studies will identify additional genes.
Among patients with GCK- or HNF1A-MODY, nine individuals in both groups showed considerable similarities of their lipid profile, suggesting the existence of a MODY-specific effect (Fig. 2).
The range of phenotypes varies from some mutations resulting in a complete destruction of beta cells and absolute lack of insulin and PNDM to others producing a MODY-like phenotype [ 47].
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