Search Results for "S487n Mody"
Original Source: Maturity-Onset Diabetes of the Young (MODY) caused by a Novel Nonsense Mutation E41X in the HNF-1alpha Gene.
The most common cause of Maturity-Onset Diabetes of the Young (MODY) are mutations in the Hepatic Nuclear Factor 1alpha (HNF-1alpha) gene, resulting in MODY3. In a family afflicted with diabetes, a novel nonsense mutation in HNF-1alpha, E41X, causing a termination codon behind the dimerization domain, was found. The penetrance in individuals older than 25 years was 81.8%. The age at manifestation of diabetes ranged from 18 to 63 years, only 2 out of 10 diabetic individuals developed the disease at ages youn...
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Scientists find first human iPSC from patients with maturity onset diabetes of the young
Joslin scientists report the first generation of human induced pluripotent stem cells from patients with an uncommon form of diabetes, maturity onset diabetes of the young (MODY). These cells offer a...
Scientists report first generation of hiPSCs from patients with maturity onset diabetes of the young
Joslin scientists report the first generation of human induced pluripotent stem cells from patients with an uncommon form of diabetes, maturity onset diabetes of the young (MODY). These cells offer a...
First human induced pluripotent stem cells from patients with maturity onset diabetes of the young
Scientists report the first generation of human induced pluripotent stem cells from patients with an uncommon form of diabetes, maturity onset diabetes of the young (MODY). These cells offer a powerfu...
Joslin scientists find first human iPSC from patients with maturity onset diabetes of the young
(Joslin Diabetes Center) Scientists at Joslin Diabetes Center in Boston report the first generation of human induced pluripotent stem cells from patients with an uncommon form of diabetes, maturity on...
Cyrus Mody applauds an examination of the twentieth-century scientists who dreamed of breaking the bounds.
Researchers demonstrate use of stem cells to analyze causes, treatment of diabetes
A team from the New York Stem Cell Foundation (NYSCF) Research Institute and the Naomi Berrie Diabetes Center of Columbia University has generated patient-specific beta cells, or insulin-producing cel...
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The most common cause of Maturity-Onset Diabetes of the Young (MODY) are mutations in the Hepatic Nuclear Factor 1alpha (HNF-1alpha) gene, resulting in MODY3. In a family afflicted with diabetes, a no...
The aim of this study was to evaluate the beta cell and incretin function in patients with HNF4A and HNF1A MODY during a test meal. Clinical characteristics and biochemical data (glucose, proinsulin,...
Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes.
The young-onset diabetes seen in HNF1A-MODY is often misdiagnosed as Type 2 diabetes. Type 2 diabetes, unlike HNF1A-MODY, is associated with insulin resistance and a characteristic dyslipidaemia. We a...
To test, or not to test: time for a MODY calculator?
To test, or not to test, that is often the question in diabetes genetics. This is why the paper of Shields et al in the current issue of Diabetologia is so warmly welcomed. MODY is the most common for...
Identification of circulating microRNAs in HNF1A-MODY carriers.
AIMS/HYPOTHESIS: HNF1A-MODY is a monogenic form of diabetes caused by mutations in the HNF1A gene. Here we identify, for the first time, HNF1A-MODY-associated microRNAs (miRNAs) that can be detected i...
