Monogenic diabetes
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
... 17 monogenic diabetes genes that were sequenced in all three stages had dis- crepancy between variant-positive pools, and these were primarily due to sites with low sequence coverage in Stage 1 data ...
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Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease
... where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic ...syndrome. Diabetes in these patients usually requires early ...of ...
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<p>Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives</p>
... of diabetes, usually type 2 ...genetic diabetes nurses are trained as regional experts in mono- genic diabetes and help identify individuals with possible monogenic diabetes who warrant ...
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Modeling Monogenic Diabetes Mody3 Using Human Pluripotent Stem Cells
... Studying monogenic diabetes, caused by a mutation in several genes essential in beta cell development and function, has been challenging due to multiple mouse models not recapitulating the human ...of ...
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Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies
... 2 diabetes and patients with a family history of diabetes in three consecutive generations and with onset before the age of 25 years (suspected monogenic diabetes) were ...of diabetes ...
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Searching for "monogenic diabetes" in dogs using a candidate gene approach
... canine diabetes share several similarities with the monogenic forms of human diabetes, known as maturity onset diabetes of the young ...of monogenic diabetes association studies ...
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Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis
... The availability and the reducing costs of NGS tech- nologies will theoretically allow a high-throughput se- quencing of all patients with diabetes. However, one major issue is the interpretation of the results, ...
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Residual β cell function and monogenic variants in long duration type 1 diabetes patients
... monogenic diabetes. A genetic screen for rare coding variants in known monogenic diabetes genes was performed on genomic DNA from all Medalists who underwent a hyperglycemic clamp or had ...
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Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities
... of diabetes are often thought to be limited to the traditional forms of monogenic diabetes such as Mature Onset Diabetes of the Young (MODY); however, diabetes may also be a component ...
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Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy
... atypical diabetes complicated by obesity and early stage diabetic nephropathy in the absence of renal ...of monogenic diabetes even in obese patients with a strong family history and a high ...
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Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks
... human monogenic diabetes do not fully reflect the altered glucose homeostasis observed in ...of monogenic diabetes, does not mimic the human disease in mouse models, leaving the ...
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Disease-modifying genes and monogenic disorders: experience in cystic fibrosis
... a monogenic disorder, studies of clinical phenotype in correlation with genotype have revealed a very complex ...essentially monogenic fashion, whereas others are strongly influenced by both modifying ...
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Current role of colonoscopy in infants and young children: a multicenter study
... as monogenic diseases among IBD pa- tients, especially in those diagnosed with IBD before the age of six ...with monogenic dis- eases may suffer from serious infections due to the use of immunosuppressive ...
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Conotruncal Malformation Complex: Examples of Possible Monogenic Inheritance
... ( Transposition of the great vessels has not been observed iii the Keeshond dog model for CTS defects, but it would appear that imcomplete spiral rotation of the conotruncal septum would[r] ...
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On the number of subsemigroups of direct products involving the free monogenic semigroup
... Abstract. The direct product N × N of two free monogenic semigroups contains uncountably many pairwise non-isomorphic subdirect products. Furthermore, the fol- lowing hold for N × S, where S is a finite semigroup. ...
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Monogenic forms of childhood obesity due to mutations in the leptin gene
... or monogenic cause for the obese state can be diagnosed and therefore a polygenic cause is ...Generally, monogenic forms of childhood obesity are very rare ...
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Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition
... Here, we reported on an auto- in fl ammatory syndrome in a patient carrying a homozygous missense mu- tation in the SLC29A3 gene. The syn- drome was characterized by recurrent episodes of fever and in fl ammation, to- ...
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Facial Expression Recognition Based on Local Features and Monogenic Binary Coding
... of monogenic binary coding of each image could be obtained with the method introduced in this study and the feature graphs JPG − A , JPG − , and JPG − could be generated correspondingly with amplitude A , ...
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Some properties on the lexicographic product of graphs obtained by monogenic semigroups
... Furthermore, in an unpublished work, the same authors of this paper studied the first and second Zagreb indices, Randić index, geometric-arithmetic index and atom-bond connectivity index,[r] ...
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Periodic fever syndromes: beyond the single gene paradigm
... The importance of disease-focused databases Research utilizing large numbers of clinical samples linked with relevant detailed clinical information is critical for targeting disease-specific biomarkers and validation of ...
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