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mody-maturity-onset-diabetes-young

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Meeting Abstracts
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1550-P
Published: 01 June 2020
... aimed to study novel genetic factors of MODY. We identified 10 probands who had clinical characteristics suggestive of MODY (i.e., positive family history of diabetes, negative islet autoantibodies, and diagnosis of diabetes at <25 y/o) but negative genetic test results on a commercial MODY gene...
Meeting Abstracts
Journal: Diabetes
Diabetes 2018;67(Supplement_1):1529-P
Published: 01 July 2018
...SHILPI RELAN; FRANCES C. HESSEL; KELLY D. TIMMONS; RONA SONABEND; MARIA J. REDONDO Current practice guidelines recommend considering a diagnosis of MODY in patients with a strong family history but without typical features of type 2 diabetes (T2D) (i.e., obesity, insulin resistance, high-risk...
Meeting Abstracts
Journal: Diabetes
Diabetes 2018;67(Supplement_1):1653-P
Published: 01 July 2018
...LINA SAADEH; LUCY D. MASTRANDREA Background: Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes. It is rare, representing the final diagnosis in 1-2% of individuals with diabetes. In the pediatric cohort, it can be confused with type 1 diabetes. Clinical diagnosis...
Journal Articles
Journal: Diabetes
Diabetes 2008;57(2):503–508
Published: 01 February 2008
... Duron; Bruno Guerci; Nathalie Jeandidier; Helen Mosnier-Pudar; Michel Assayag; Danièle Dubois-Laforgue; Gilberto Velho; José Timsit OBJECTIVE— The clinical expression of maturity-onset diabetes of the young (MODY)-3 is highly variable. This may be due to environmental and/or genetic factors, including...
Includes: Supplementary data
Journal Articles
Journal: Diabetes
Diabetes 2007;56(3):685–693
Published: 01 March 2007
... in the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with type 2 diabetes. Specifically, we determined patterns of common sequence variation in the genes encoding Gck, Ipf1, Tcf2, and NeuroD1 (MODY2 and MODY4–MODY6, respectively...
Includes: Supplementary data
Meeting Abstracts
Journal: Diabetes
Diabetes 1999;48(8):1645–1651
Published: 01 August 1999
... associated with maturity-onset diabetes of the young type 2 (MODY-2) were determined by a steady-state kinetic analysis of the purified expressed proteins. The eight MODY-2 mutations studied were Ala53Ser, Val367Met, Gly80Ala, Thr168Pro, Arg36Trp, Thr209Met, Cys213Arg, and Val226Met. These missense mutations...
Images
Relationships between phenotype, genotype, and functional severity of Kir6....
Published: 01 September 2005
FIG. 3. Relationships between phenotype, genotype, and functional severity of Kir6.2 mutations and polymorphisms. Graphic indicating how the clinical severity of the disease is associated with specific mutations and how this may reflect the extent of reduction in the ATP-sensitivity of the mutated KATP channel. i-DEND, intermediate DEND syndrome; MODY, maturity-onset diabetes of the young (includes childhood and early adult onset diabetes); PNDM, permanent neonatal diabetes; TNDM, transient neonatal diabetes. FIG. 3. Relationships between phenotype, genotype, and functional severity of Kir6.2 mutations and polymorphisms. Graphic indicating how the clinical severity of the disease is associated with specific mutations and how this may reflect the extent of reduction in the ATP-sensitivity of the mutated KATP channel. i-DEND, intermediate DEND syndrome; MODY, maturity-onset diabetes of the young (includes childhood and early adult onset diabetes); PNDM, permanent neonatal diabetes; TNDM, transient neonatal diabetes. More
Images
Schematic representation of the glucose metabolism and insulin secretory pa...
Published: 16 March 2022
Figure 6 Schematic representation of the glucose metabolism and insulin secretory pathway in a pancreatic β-cell: 1) mice with β-cell–specific KATP-GOF mutation (orange, left side of the cell); 2) mice with β-cell–specific GCK+/− haploinsufficiency (blue, right side of the cell), and 3) a combination of both β-cell–specific KATP-GOF and GCK+/− (purple, middle of the cell). MODY-2, maturity-onset diabetes of the young 2. More
Meeting Abstracts
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1661-P
Published: 01 June 2020
...SU FEN ANG; CLARA SI HUA TAN; YIN CHIAN KON; LIAN XIA; SU CHI LIM Introduction: Monogenic diabetes (also known as maturity-onset diabetes of the young or MODY) is a rare genetic disorder with an undetermined prevalence in Singapore. The NHG-KTPH Monogenic Diabetes Registry was set up in mid-2017...
Meeting Abstracts
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1660-P
Published: 01 June 2020
...DAISUKE TANAKA; SAKI OKAMOTO; YANYAN LIU; KATSUMI IIZUKA; YOSHIYUKI HAMAMOTO; YUKIO HORIKAWA; DAISUKE YABE; NOBUYA INAGAKI Maturity-onset diabetes of the young (MODY) is characterized by early-onset diabetes with dominant inheritance. To date, 14 causative genes have been proposed for MODY, however...
Meeting Abstracts
Journal: Diabetes
Diabetes 2018;67(Supplement_1):2409-PUB
Published: 01 July 2018
...DANIEL ENGLERT; JARED DENDY Introduction: Maturity Onset Diabetes of the Young (MODY) is a relatively uncommon, but increasingly recognized cause of diabetes. Many MODY patients are misdiagnosed as type 1 or type 2 diabetes mellitus (DM) and may be treated suboptimally for many years before...
Meeting Abstracts
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1551-P
Published: 01 June 2020
...MUSTAFA TOSUR; AHMAD K. REFAEY; DANIELLE GUFFEY; ASHOK BALASUBRAMANYAM; MARIA J. REDONDO Maturity-onset diabetes of the young (MODY) is under-diagnosed or misdiagnosed as type 1 diabetes (T1D) or type 2 diabetes (T2D), in part due to lack of systematic genetic testing. We aimed to define patient...
Meeting Abstracts
Journal: Diabetes
Diabetes 2019;68(Supplement_1):238-LB
Published: 01 June 2019
...UYENLINH L. MIRSHAHI; JESSICA M. GOEHRINGER; YING HU; AMR H. WARDEH; JANET WILLIAMS; CATARINA B. MANNEY; JEFFREY C. STAPLES; JOSEPH B. LEADER; ALAN R. SHULDINER; TONI I. POLLIN; DAVID J. CAREY Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes attributed to a highly...
Meeting Abstracts
Journal: Diabetes
Diabetes 2019;68(Supplement_1):28-OR
Published: 01 June 2019
...VALERIE SCHWITZGEBEL; JEAN-LOUIS BLOUIN; FEDERICO SANTONI Background/Introduction: Diabetes represents a heterogeneous group of metabolic disorders and monogenic diabetes is thought to affect 1- 5% of the diabetes population. Monogenic diabetes causes neonatal diabetes (ND), maturity-onset diabetes...
Meeting Abstracts
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1658-P
Published: 01 June 2020
...YUKI FUJITA; TAKANORI HYO; MIHO MATSUBARA; YOSHIYUKI HAMAMOTO; DAISUKE TANAKA; YUTAKA SEINO Maturity-onset diabetes of the young (MODY) is a group of dominantly inherited non-autoimmune diabetes characterized by early onset. Delayed diagnosis or misdiagnosis as type 1 or 2 diabetes is common...
Journal Articles
Journal: Diabetes
Diabetes 2022;71(5):1128–1136
Published: 02 February 2022
...Thomas W. Laver; Matthew N. Wakeling; Olivia Knox; Kevin Colclough; Caroline F. Wright; Sian Ellard; Andrew T. Hattersley; Michael N. Weedon; Kashyap A. Patel Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16...
Journal Articles
Journal: Diabetes
Diabetes 2004;53(5):1375–1384
Published: 01 May 2004
...Sung-Hoon Kim; Xiaowei Ma; Stanislawa Weremowicz; Tonino Ercolino; Christine Powers; Wojciech Mlynarski; K. Aviva Bashan; James H. Warram; Josyf Mychaleckyj; Stephen S. Rich; Andrzej S. Krolewski; Alessandro Doria Maturity-onset diabetes of the young (MODY) is a subtype of diabetes defined...
Journal Articles
Journal: Diabetes
Diabetes 2008;57(4):1034–1042
Published: 01 April 2008
... with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS— The INS gene was sequenced in 285 patients with diabetes diagnosed before 2 years of age, 296 probands with maturity-onset diabetes of the young (MODY), and 463 patients...
Meeting Abstracts
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1454-P
Published: 01 June 2020
...LINA SULIEMAN; ANDREA RAMIREZ Maturity onset diabetes of the young (MODY) is a rare cause of diabetes. Most clinical information required to diagnose MODY is difficult to extract from Electronic Health Records (EHR) due to the lack of specific billing code and diagnoses found only in clinical notes...
Meeting Abstracts
Journal: Diabetes
Diabetes 2020;69(Supplement_1):127-LB
Published: 01 June 2020
...MARY MCCAULEY; SERENA KORKMAZ; LISA R. LETOURNEAU-FREIBERG; ROCHELLE N. NAYLOR; SIRI ATMA W. GREELEY Introduction: Maturity onset diabetes of the young (MODY) may represent 2-5% of diabetes under 30-35 years. Rarely MODY may be due to mutation in the INS gene. HNF1A mutations...