"MODY 1"

Frequency and characteristics of MODY 1 (HNF4A mutation) and MODY 5 (HNF1B mutation) - Analysis from the DPV database. To characterize the initial presentation and clinical course of patients with hepatocyte nuclear factor (HNF) 4A‒ and HNF1B‒MODY in a multinational registry. Within the Diabetes Patienten Verlaufsdokumentation (DPV) registry, 44 patients with HNF4A- and 35 patients with HNF1B

Modi-1 in Breast, Head and Neck, Ovarian, or Renal Cancer The main objectives of this study are to assess the safety, tolerability, immunological activity, and preliminary efficacy of the Modi-1/Modi-1v vaccine, both as monotherapy and in combination with a checkpoint inhibitor (CPI) such as pembrolizumab or nivolumab (where these are standard of care in a non-neoadjuvant setting), in patients with advanced triple negative breast cancer (TNBC), advanced/unresectable human papillomavirus-negative squamous cell carcinoma of the head and neck (SCCHN), high grade serous ovarian carcinoma (HGSOC), or renal cell carcinoma (RCC).Modi-1 will also be investigated in the neoadjuvant setting for patients with SCCHN undergoing curative intent surgical resection in combination with pembrolizumab versus the Modi

Kemp, Azeem Majeed, Joanna Murray, Stavros Petrou, Katherine Rogers, Shalini Santhakumaran, Sonia Saxena, Yevgeniy Statnikov, Hilary Wong & Alys Young. * Detailed Author information * * Detailed Author informationNeena Modi 1,*, Deborah Ashby 2, Cheryl Battersby 1, Peter Brocklehurst 3, Zoe Chivers 4, Kate Costeloe 5, Elizabeth S Draper 6, Victoria Foster 7, Jacquie Kemp 8, Azeem Majeed 9, Joanna

HLA genotypes, random C-peptide, and/or high-sensitivity C-reactive protein (hsCRP) levels could be helpful biomarkers for identifying MODY in antibody-negative diabetes. Subjects (N = 97) with diabetes onset ≤age 25, measurable C-peptide (≥0.1 ng/mL), and negative for all four diabetes autoantibodies were enrolled at a large academic center and tested for MODY 1-5 through Athena Diagnostics

Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus HNF4A-p.I463Vvariant, reported previously in two distinct families suspected of MODY-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%). 200 Tunisian healthy people were screened for the presence of HNF4A-p.I463V variant, using as a mutation responsible for MODY-1.

VI. Updates: March 2022 1. Maturity Onset Diabetes of the Young (endo, diabetes) 1. MODY accounts for 1 to 5% of Diabetes Mellitus cases and often misdiagnosed as Type 1 or Type 2 Diabetes 2. MODY is typically Autosomal Dominant (3 genetic defects account for >95% of cases) 3. MODY results from non-autoimmune deficient Insulin secretion, with MODY 1 and MODY 3 typically requiring treatment 4. MODY 1 and 3 are highly sensitive to Sulfonylureas (with Hypoglycemia risk), which often maintain efficacy for decades 2. Hemoptysis (lung, sx) 1. Extensive updates 3. Borderline Personality Disorder (psych, behavior) 1. Extensive Updates 4. Foot Drop (neuro, exam) 1. Added a page on Foot Drop (thanks to Dr. Wesam Khalfalla for the suggestion

VI. Updates: March 2022 1. Maturity Onset Diabetes of the Young (endo, diabetes) 1. MODY accounts for 1 to 5% of Diabetes Mellitus cases and often misdiagnosed as Type 1 or Type 2 Diabetes 2. MODY is typically Autosomal Dominant (3 genetic defects account for >95% of cases) 3. MODY results from non-autoimmune deficient Insulin secretion, with MODY 1 and MODY 3 typically requiring treatment 4. MODY 1 and 3 are highly sensitive to Sulfonylureas (with Hypoglycemia risk), which often maintain efficacy for decades 2. Hemoptysis (lung, sx) 1. Extensive updates 3. Borderline Personality Disorder (psych, behavior) 1. Extensive Updates 4. Foot Drop (neuro, exam) 1. Added a page on Foot Drop (thanks to Dr. Wesam Khalfalla for the suggestion

Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)? Genetic testing is needed for the formal diagnosis of maturity-onset diabetes of the young (MODY), but this is not widely available. If any MODY biomarkers were known, these could possibly be used as an alternative. Hepatocyte nuclear factor (HNF)-1alpha and HNF-4alpha regulate

carrying a substitution in both the hepatocyte nuclear factor (HNF)1A and HNF4A gene simultaneously. A 39-year-old man was referred because of mild diabetic retinopathy. Because of a dominant presentation of diabetes in his family, genetic testing was performed. Sequence analysis of the genes involved in MODY-1-3 revealed the presence of an amino acid substitution in the HNF1A as well as the HNF4A gene

Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes. Variants in hepatocyte nuclear factor 4A (HNF4A) cause maturity onset diabetes of the young (MODY 1). The objective of the study was to screen the coding and the promoter regions of HNF4A mutations in 87 unrelated South Indian subjects with clinically of rs1884614 and rs2071197 was significantly lower in early onset T2DM when compared to NGT subjects (p < 0.01). Minor allele frequency of Val255Met was significantly lower in MODY, early onset T2DM and late onset T2DM compared to NGT subjects (p < 0.01). This is the first report of MODY 1 mutations from India and shows that 3.4% of clinically diagnosed MODY subjects have MODY 1. In addition, we report SNPs

Negative autoregulation of HNF-4α gene expression by HNF-4α1 HNF-4alpha (hepatocyte nuclear factor-4alpha) is required for tissue-specific expression of many of the hepatic, pancreatic, enteric and renal traits. Heterozygous HNF-4alpha mutants are inflicted by MODY-1 (maturity onset diabetes of the young type-1). HNF-4alpha expression is reported here to be negatively autoregulated by HNF exerted by transcriptional-defective MODY-1 missense mutants of HNF-4alpha1, or under conditions of suppressing or enhancing HNF-4alpha activity by small heterodimer partner or by inhibiting histone deacetylase respectively. Negative autoregulation by HNF-4alpha1 was abrogated by overexpressed Sp1. Transcriptional suppression by HNF-4alpha1 independently of its transactivation function may extend

medical follow up, whereas other forms of MODY (1, 3, and 4) might carry a different prognosis.

Specialty Endocrinology Maturity-onset diabetes of the young (MODY)[1] refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene[2] disrupting insulin production. MODY is often referred to as monogenic diabetes[3][4] to distinguish it from the more common types of diabetes (especially type 1 MODY 1 125850 hepatocyte nuclear factor 4α Due to a loss-of-function mutation in the HNF4α gene. 5%–10% cases. MODY 2 125851 glucokinase

* MODY 1 * Familial partial lipodystrophy 3