Cargando…

Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus

AIMS/INTRODUCTION: The adenosine triphosphate (ATP)‐sensitive potassium (K(ATP)) channel is a key component of insulin secretion in pancreatic β‐cells. Activating mutations in ABCC8 encoding for the sulfonylurea receptor subunit of the K(ATP) channel have been associated with the development of neon...

Descripción completa

Detalles Bibliográficos
Autores principales:	Takagi, Tomoyuki, Furuta, Hiroto, Miyawaki, Masakazu, Nagashima, Kazuaki, Shimada, Takeshi, Doi, Asako, Matsuno, Shohei, Tanaka, Daisuke, Nishi, Masahiro, Sasaki, Hideyuki, Inagaki, Nobuya, Yoshikawa, Norishige, Nanjo, Kishio, Akamizu, Takashi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wiley-Blackwell 2013
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015663/ https://www.ncbi.nlm.nih.gov/pubmed/24843665 http://dx.doi.org/10.1111/jdi.12049

Ejemplares similares

Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6‐year clinical course
por: Uraki, Shinsuke, et al.
Publicado: (2019)

Pro198Leu missense polymorphism of the glutathione peroxidase 1 gene might be a common genetic predisposition of distal symmetric polyneuropathy and macrovascular disease in Japanese type 2 diabetic patients
por: Matsuno, Shohei, et al.
Publicado: (2011)

Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing
por: Matsutani, Norihiko, et al.
Publicado: (2019)

Bilateral atrophy of the extensor digitorum brevis muscle might be a useful sign for diagnosing diabetic polyneuropathy in Japanese men who do not sit in the traditional “seiza” style
por: Kishimoto, Shohei, et al.
Publicado: (2020)

Numbness and paresthesia in bilateral toes and soles, and disproportional sweating restricted to face and trunk are suitable symptoms useful for the diagnosis of diabetic symmetric polyneuropathy
por: Nakatani, Muneki, et al.
Publicado: (2011)

Clinical polyneuropathy does not increase with prediabetes or metabolic syndrome in the Japanese general population
por: Kurisu, Seigo, et al.
Publicado: (2019)

Increased arterial stiffness is closely associated with hyperglycemia and improved by glycemic control in diabetic patients
por: Ibata, Junko, et al.
Publicado: (2013)

Effect of anti‐oxidants, Ricetrienol and α‐tocopherol, on adipocytokine abnormalities and fatty liver in Otsuka Long‐Evans Tokushima Fatty diabetic rats
por: Tatsumi, Kunihiro, et al.
Publicado: (2010)

Thyroid function, glycemic control, and diabetic nephropathy in patients with type 2 diabetes over 24 months: prospective observational study
por: Iwakura, Hiroshi, et al.
Publicado: (2023)

Hypersecretion of ACTH and PRL from pituitary adenoma in MEN1, adequately managed by medical therapy
por: Uraki, Shinsuke, et al.
Publicado: (2017)

Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
por: Matsuno, Shohei, et al.
Publicado: (2018)

Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency
por: Tsuji, Tomoya, et al.
Publicado: (2020)

Difference in normal limit values of nerve conduction parameters between Westerners and Japanese people might need to be considered when diagnosing diabetic polyneuropathy using a Point‐of‐Care Sural Nerve Conduction Device (NC‐stat®/DPNCheck™)
por: Hirayasu, Kazuhiro, et al.
Publicado: (2018)

Truncal Pruritus of Unknown Origin May Be a Symptom of Diabetic Polyneuropathy
por: Yamaoka, Hiroyuki, et al.
Publicado: (2010)

Early detection of euglycemic ketoacidosis during thoracic surgery associated with empagliflozin in a patient with type 2 diabetes: A case report
por: Kitahara, Chie, et al.
Publicado: (2020)

Insulin gene mutations and diabetes
por: Nishi, Masahiro, et al.
Publicado: (2011)

Temporomandibular Disorders and Headache: A Retrospective Analysis of 1198 Patients
por: Di Paolo, Carlo, et al.
Publicado: (2017)

Fulminant Type 1 Diabetes Mellitus Accompanied by Positive Conversion of Anti-insulin Antibody after the Administration of Anti-CTLA-4 Antibody Following the Discontinuation of Anti-PD-1 Antibody
por: Shiba, Michiru, et al.
Publicado: (2018)

Report of the Committee on the Classification and Diagnostic Criteria of Diabetes Mellitus
por: Seino, Yutaka, et al.
Publicado: (2010)

1198. Impact of Quaternary Ammonium Disinfectants on Transfer of viruses from Fomites to the Finger
por: Gerba, Charles P
Publicado: (2022)

1198. More is not Merrier: Mitigating Meropenem Misuse in the ICU at an Academic Medical Center
por: Huang, Angela, et al.
Publicado: (2023)

Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report
por: Morita, Shuhei, et al.
Publicado: (2020)

Severe multi-year drought coincident with Hittite collapse around 1198–1196 bc
por: Manning, Sturt W., et al.
Publicado: (2023)

MSH6/2 and PD-L1 Expressions Are Associated with Tumor Growth and Invasiveness in Silent Pituitary Adenoma Subtypes
por: Uraki, Shinsuke, et al.
Publicado: (2020)

Nighttime Appendectomy is Safe and has Similar Outcomes as Daytime Appendectomy: A Study of 1198 Appendectomies
por: Mönttinen, T., et al.
Publicado: (2020)

1198. Lyme Disease Post-Exposure Prophylaxis by Single-Dose Doxycycline in Three Healthcare Systems
por: Marx, Grace E, et al.
Publicado: (2021)

The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)
por: Ryu, Sohee, et al.
Publicado: (2019)

L1198F Mutation Resensitizes Crizotinib to ALK by Altering the Conformation of Inhibitor and ATP Binding Sites
por: Li, Jian, et al.
Publicado: (2017)

PO-1198 Changes in radical radiotherapy for lung cancer patients in the UK during the COVID-19 pandemic.
por: croxford, W., et al.
Publicado: (2021)

Nicotinic acetylcholine receptor signaling regulates inositol‐requiring enzyme 1α activation to protect β‐cells against terminal unfolded protein response under irremediable endoplasmic reticulum stress
por: Ishibashi, Tatsuya, et al.
Publicado: (2020)

Reduction of Reactive Oxygen Species Ameliorates Metabolism-Secretion Coupling in Islets of Diabetic GK Rats by Suppressing Lactate Overproduction
por: Sasaki, Mayumi, et al.
Publicado: (2013)

A Human ABC Transporter ABCC4 Gene SNP (rs11568658, 559 G > T, G187W) Reduces ABCC4-Dependent Drug Resistance
por: Tsukamoto, Megumi, et al.
Publicado: (2019)

Sculpting Secondary Structure of a Cyclic Peptide: Conformational Analysis of a Cyclic Hexapeptide Containing a Combination of l-Leu, d-Leu, and Aib Residues
por: Ito, Takahito, et al.
Publicado: (2023)

Graves' Disease in Pediatric and Elderly Patients with 22q11.2 Deletion Syndrome
por: Ueda, Yoko, et al.
Publicado: (2017)

Effect of SARS-CoV-2 BNT162b2 mRNA vaccine on thyroid autoimmunity: A twelve-month follow-up study
por: Morita, Shuhei, et al.
Publicado: (2023)

1198. Clinical Characteristics and Outcomes of Klebsiella pneumoniae Infections in Service Members Who Sustained Trauma in Iraq and Afghanistan
por: Kiley, John, et al.
Publicado: (2018)

Molecular Modeling of ALK L1198F and/or G1202R Mutations to Determine Differential Crizotinib Sensitivity
por: Chuang, Yu-Chung, et al.
Publicado: (2019)

1198. Developing Infection Prevention and Control (IPC) Educational Videos to Improve Knowledge of Respiratory Virus Transmission and Etiquette
por: Gianchetti, Lauren, et al.
Publicado: (2019)

Effect of the Hydration Shell on the Carbonyl Vibration in the Ala-Leu-Ala-Leu Peptide
por: Hassan, Irtaza, et al.
Publicado: (2021)

Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation
por: Wakasaki, Hisao, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_mftaqf5c7q2p7qo29vlfut35l2