Cargando…

NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report

BACKGROUND: Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal, dominant disease that results in beta-cells dysfunction with consequent hyperglycaemia. It represents a rare form of diabetes (1–2% of all the cases). Sulphonylureas (SUs) represent the first-line treatment for this f...

Descripción completa

Detalles Bibliográficos
Autores principales:	Brodosi, Lucia, Baracco, Bianca, Mantovani, Vilma, Pironi, Loris
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518322/ https://www.ncbi.nlm.nih.gov/pubmed/34654408 http://dx.doi.org/10.1186/s12902-021-00864-w

Ejemplares similares

Malnutrition and nutritional therapy in patients with SARS-CoV-2 disease
por: Pironi, Loris, et al.
Publicado: (2021)

Effects of antidiabetic agents on steatosis and fibrosis biomarkers in type 2 diabetes: A real‐world data analysis
por: Colosimo, Santo, et al.
Publicado: (2021)

Novel gene mutation in maturity-onset diabetes of the young: A case report
por: Zhang, Na, et al.
Publicado: (2023)

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options
por: Younis, Hazar, et al.
Publicado: (2022)

Malnutrition in hospitalized patients with SARS-CoV-2 infection
por: Pironi, L., et al.
Publicado: (2020)

Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:: A multicenter Italian study of 172 families
por: Lorini, Renata, et al.
Publicado: (2009)

Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia
por: Valentínová, Lucia, et al.
Publicado: (2012)

GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2
por: Noorian, Shahab, et al.
Publicado: (2013)

Hes6 Is Required for the Neurogenic Activity of Neurogenin and NeuroD
por: Murai, Kasumi, et al.
Publicado: (2011)

The NeuroD6 Subtype of VTA Neurons Contributes to Psychostimulant Sensitization and Behavioral Reinforcement
por: Bimpisidis, Zisis, et al.
Publicado: (2019)

Recognition of maturity‐onset diabetes of the young in China
por: Liang, Hua, et al.
Publicado: (2020)

Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic
por: Al-Kandari, Hessa, et al.
Publicado: (2021)

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene
por: Orosz, Orsolya, et al.
Publicado: (2015)

Identification of Two New Mutations in the Glucokinase Gene That Result in Maturity-Onset Diabetes of the Young
por: Marks, Seth D., et al.
Publicado: (2010)

GCK gene mutations are a common cause of childhood‐onset MODY (maturity‐onset diabetes of the young) in Turkey
por: Haliloglu, Belma, et al.
Publicado: (2016)

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities
por: Rubio-Cabezas, Oscar, et al.
Publicado: (2010)

Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey
por: Brodosi, Lucia, et al.
Publicado: (2023)

Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report
por: Xu, Qian, et al.
Publicado: (2022)

Molecular diagnosis of maturity onset diabetes of the young in India
por: Nair, Veena V., et al.
Publicado: (2013)

Insm1 cooperates with Neurod1 and Foxa2 to maintain mature pancreatic β-cell function
por: Jia, Shiqi, et al.
Publicado: (2015)

Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes
por: Bouldjennet, Faiza, et al.
Publicado: (2020)

Maturity Onset Diabetes of the Young Masquerading as New Onset Diabetes Mellitus Type 1
por: Miller, Assia, et al.
Publicado: (2021)

De novo HNF1A mutation of young maturity-onset diabetes 3 of a young girl—Case report
por: Peng, Haoran, et al.
Publicado: (2023)

HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report
por: Plengvidhya, Nattachet, et al.
Publicado: (2019)

Characteristics of maturity onset diabetes of the young in a large diabetes center
por: Chambers, Christina, et al.
Publicado: (2015)

Maturity-Onset Diabetes of Young Type 5: Diabetes with Extrapancreatic Features
por: Haider, Adnan, et al.
Publicado: (2021)

Clinical features and treatment of maturity onset diabetes of the young (MODY)
por: Gardner, Daphne SL, et al.
Publicado: (2012)

Update on clinical screening of maturity-onset diabetes of the young (MODY)
por: Peixoto-Barbosa, Renata, et al.
Publicado: (2020)

Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment
por: Jang, Kyung Mi
Publicado: (2020)

Maturity onset diabetes of the young and fibrin-related thrombosis risk
por: Sagar, RC, et al.
Publicado: (2020)

Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling
por: Skoczek, Dawid, et al.
Publicado: (2021)

Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young
por: Sousa, Madalena, et al.
Publicado: (2022)

SAT092 A Case Of Mature Onset Diabetes Of The Young
por: Beshay, Lauren, et al.
Publicado: (2023)

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)
por: Boesgaard, Trine W, et al.
Publicado: (2010)

New HNF‐1α nonsense mutation causes maturity‐onset diabetes of the young type 3
por: Nogaroto, Viviane, et al.
Publicado: (2011)

A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2)
por: Jo, Wakako, et al.
Publicado: (2010)

Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
por: Cho, Eun-Hee, et al.
Publicado: (2017)

Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)
por: Xiao, Xiaoyu, et al.
Publicado: (2018)

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations
por: Alvelos, Maria I., et al.
Publicado: (2020)

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients
por: Ivanoshchuk, Dinara E., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_njoh6pv0i5aekiqj0lgcpjdvr3