Cargando…

OR28-3 A Mutation in KCNK16 Segregating with Autosomal Dominant Non-Ketotic Diabetes Drastically Increases TALK-1 Membrane Current: A Novel Gene for MODY?

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes. Exome sequencing of a non-obese four-generation family with autosomal dominant non-ketotic antibody-negative diabetes, who were negative for mutations in known MODY genes, identified a novel coding variant in KCNK16 (NM_001...

Descripción completa

Detalles Bibliográficos
Autores principales:	Johnson, Stephanie, Graff, Sarah, Dadi, Prasanna, Marshall, Mhairi, Leo, Paul, McInerney-Leo, Aideen, Brown, Matthew, Jacobson, David, Duncan, Emma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Diabetes Mellitus and Glucose Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554761/ http://dx.doi.org/10.1210/js.2019-OR28-3

Ejemplares similares

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young
por: Graff, Sarah M., et al.
Publicado: (2021)

Euglycemic DKA in Patients on SGLT2 Inhibitor and Potentially Ketotic State
por: Khalifa, Maram, et al.
Publicado: (2021)

Neonatal Hypo-Ketotic Hypoglycemia Secondary to Transient Hyperinsulinism: Diazoxide Responsiveness and Experience With Fasting Test After Treatment Withdrawal
por: Martín, Nerea Itza, et al.
Publicado: (2021)

MON-677 A Neuro-Radiological Stroke Mimicker: Non-Ketotic Hyperglycemia Induced Occipital Lobe Hyperdensity Presenting with Seizures
por: Pansare, Rahul Shashikant, et al.
Publicado: (2020)

SUN-687 MODY-14: A Rare Cause of Inherited Diabetes
por: Epp, Riley, et al.
Publicado: (2020)

SUN-130 A Not-So-Simple Work-Up of Diabetes: A Case of MODY 5
por: Tran, Trung, et al.
Publicado: (2019)

SUN-132 Investigating the Accuracy of Risk Factor Calculators in Diagnosing Maturity Onset Diabetes of the Young (MODY)
por: McCarthy, Aisling, et al.
Publicado: (2019)

MON-LB120 MODY3 With Insulin Coding Gene Mutation and Craniofacial Microsomia: A Case Report
por: Cao, Chenxiang, et al.
Publicado: (2020)

MON-646 Novel Use of GLP-1 Receptor Agonist Therapy in MODY-1 (HNF4A Mutation)
por: Broome, David Tyler, et al.
Publicado: (2020)

SUN-LB035 Blood Glucose Trends Documented by Continuous Glucose Monitors Can Be Foundational in the Diagnostic Evaluation of MODY 2
por: Addala, Ananta, et al.
Publicado: (2019)

Sodium Glucose Co-Transporter2 (SGLT2) Inhibition for Refractory Hypomagnesemia in Monogenic Diabetes Type 5 (MODY 5)
por: Paul, Anju A, et al.
Publicado: (2021)

SUN-129 Early Onset Of MODY 5 Due To The Haploinsufficency HNF1B Gene As Part Of 17q12 Deletion
por: Bustamante Escobar, Carmen, et al.
Publicado: (2019)

MON-130 Optimal Glycemic Control in a Patient with HNF1A MODY with GLP1-RA Monotherapy: Implications for Future Therapy
por: Fantasia, Kathryn, et al.
Publicado: (2019)

PSUN245 Non-ketotic Hyperglycemic Hemichorea-Hemiballismus Precipitated by Antipsychotics
por: Elsherif, Ahmed, et al.
Publicado: (2022)

Inheritance of Mildly Activating ABCC8 Mutation From a Mother With MODY Causes Permanent Neonatal Diabetes Mellitus (NDM) in Two Siblings Who Also Carry a Second Inactivating Mutation: Genetic Testing Allows for Improved Treatment With Sulfonylureas (SU)
por: Salguero Bermonth, Maria Victoria, et al.
Publicado: (2021)

OR34-06 Gliclazide Restores Appropriate Glucagon Suppression During OGTT In MODY3 & MODY1 Patients: Results Of The “Glucagon In MODY” Study
por: Spiliotis, Ioannis Ilias, et al.
Publicado: (2023)

ODP261 Non-Ketotic Hyperosmolar Hyperglycemia Induced Hemichorea-Dystonia Syndrome, Without Radiologic Striatopathy
por: Kumi, Dennis, et al.
Publicado: (2022)

FRI637 Missed MODY With Complex Mutation
por: Bulchandani, Sheetal, et al.
Publicado: (2023)

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls
por: McInerney-Leo, Aideen M., et al.
Publicado: (2021)

PSUN247 Unique Presentation of MODY Type 5
por: Bella, Sama, et al.
Publicado: (2022)

ODP186 Difficulties in diagnosing MODY: clinical case
por: Volkova, Natalya, et al.
Publicado: (2022)

2-Aminoethoxydiphenyl borate activates the mechanically gated human KCNK channels KCNK 2 (TREK-1), KCNK 4 (TRAAK), and KCNK 10 (TREK-2)
por: Beltrán, Leopoldo, et al.
Publicado: (2013)

The MODY-associated TALK-1 L114P mutation causes islet α-cell overactivity and β-cell inactivity resulting in transient neonatal diabetes and glucose dyshomeostasis in adults
por: Nakhe, Arya Y., et al.
Publicado: (2023)

SAT082 Utility Of A MODY Probability Calculator As A Systemwide Surveillance Tool
por: Awad, Dana, et al.
Publicado: (2023)

SAT079 A Novel Variant In The Carboxyl Ester Lipase (CEL) Gene Causing MODY
por: Medavarapu, chalapathi Rao, et al.
Publicado: (2023)

SAT078 A Case Of MODY Due To A Rare Activating Variant In The ABCC8 Gene
por: Milosavljevic, Jovan, et al.
Publicado: (2023)

SAT081 Maturity Onset Diabetes Of The Young (MODY) Due To A New BLK Gene Mutation
por: Taha, Doris, et al.
Publicado: (2023)

SAT085 Oral Glucagon-like Peptide-1 Receptor Agonist As Adjuvant Treatment In HNF1A-MODY
por: Tyler Broome, David
Publicado: (2023)

MON-LB024 Episodic Hypoglycemia in Non-Diabetics: Differentiating Distressing from Deadly
por: Windham, Mary, et al.
Publicado: (2019)

MON-LB028 Comparing Cardiovascular Effects of GLP-1 Agonists in a Real World Setting
por: Wallia, Amisha, et al.
Publicado: (2019)

MON-158 Association between Famine Exposure in Early Life with Insulin Resistance and β-cell Dysfunction in Adulthood
por: Wang, Yuying, et al.
Publicado: (2019)

MON-159 Increased Gluconeogenesis and Lower Glycogenolysis in Patients with Non-Selective Compared Selective Insulin Resistance
por: Sekizkardes, Hilal, et al.
Publicado: (2019)

MON-164 The Non-insulin-based METS-IR Index Combined With Liver Transaminases Improves Prediction Of Fatty Liver And Fibrosis
por: Bello-Chavolla, Omar, et al.
Publicado: (2019)

MON-162 Hepatic DNA Damage Induced by ENDS Is Associated with Decreased Levels of NAD+
por: Espinoza-Derout, Jorge, et al.
Publicado: (2019)

MON-150 Phone Call Reminders and Mobile Health Apps: Do They Help Our Diabetic Patients?
por: Lu, Kevin, et al.
Publicado: (2019)

MON-182 Adaptable Amperometric Biosensor Platforms for the Diagnosis of Endocrine Disorders
por: Labban, Najwa, et al.
Publicado: (2019)

MON-129 An Unusual LMNA Mutation Causing a Complex Phenotype: When the Genetic Diagnosis Uncovers Novel Features
por: Andrade, Natália, et al.
Publicado: (2019)

MON-178 Vitamin D Treatment of Patients with Type 1 Diabetes Reduces RORy, FoxP3 and CD4 Gene Expression in T Helper Cells
por: Penna-Martinez, Marissa, et al.
Publicado: (2019)

MON-154 Abnormal Glucose Homeostasis in Spinal Muscular Atrophy (SMA) Leading to a Transient Episode of Diabetic Ketoacidosis (DKA)
por: Hossain, Sabina, et al.
Publicado: (2019)

MON-149 The Impact of Diabetes Educational Videos in Diabetes Attitudes in a Brazilian Population
por: Zappala, Renata, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_m4v663vnet00o5hgpc8ormabp4