Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

IA Khan - Heliyon, 2021 - cell.com
Neonatal diabetes mellitus (NDM) is noted as a genetic, heterogeneous, and rare disease in
infants. NDM occurs due to a single-gene mutation in neonates. A common source for …

Modeling different types of diabetes using human pluripotent stem cells

EM Abdelalim - Cellular and Molecular Life Sciences, 2021 - Springer
Diabetes mellitus (DM) is a metabolic disease characterized by chronic hyperglycemia as a
result of progressive loss of pancreatic β cells, which could lead to several debilitating …

The application of precision medicine in monogenic diabetes

F Barbetti, N Rapini, R Schiaffini, C Bizzarri… - Expert Review of …, 2022 - Taylor & Francis
Introduction Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a
single gene and may account for 1–2% of all clinical forms of diabetes. To date, more than …

Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia

Y Wang, X Xiao, Q Lin, R Song, X Wang… - Journal of Diabetes …, 2024 - Wiley Online Library
Aims HNF1B syndrome is caused by defects in the hepatocyte nuclear factor 1B (HNF1B)
gene, which leads to maturity‐onset diabetes of the young type 5 and congenital organ …

Genetic underpinnings of neonatal diabetes: a review of current research

M Golshan-Tafti, SA Dastgheib, R Bahrami… - Egyptian Journal of …, 2024 - Springer
Neonatal diabetes mellitus (NDM) is a rare, insulin-dependent diabetes that manifests within
the first month of life and requires insulin therapy for management. NDM is categorized into …

[HTML][HTML] Next-generation sequencing technologies in diabetes research

M Fareed, W Chauhan, R Fatma, I Din, M Afzal… - Diabetes Epidemiology …, 2022 - Elsevier
Current global estimates suggest that more than 537 million young adults are living with
diabetes worldwide, which has become a serious health burden. From the genetic …

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations

H Demirbilek, A Cayir, SE Flanagan… - The Journal of …, 2020 - academic.oup.com
Context Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated
pancreatic agenesis. These patients do not have severe neurological features associated …

Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience

W Laimon, M El-Ziny, A El-Hawary, A Elsharkawy… - Acta Diabetologica, 2021 - Springer
Aims Neonatal diabetes mellitus (NDM) is a rare disease where diabetes presents during
the first six months of life. There are two types of this disorder: permanent neonatal diabetes …

Insulin Delivery Technology for Treatment of Infants with Neonatal Diabetes Mellitus: A Systematic Review

R Panza, V Cattivera, J Colella, ME Baldassarre… - Diabetes Therapy, 2024 - Springer
Neonatal diabetes mellitus is a rare disorder of glucose metabolism with onset within the first
6 months of life. The initial treatment is based on insulin infusion. The technologies for …

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022

N Rapini, M Delvecchio, M Mucciolo… - The Journal of …, 2024 - academic.oup.com
Context In the last decade the Sanger method of DNA sequencing has been replaced by
next-generation sequencing (NGS). NGS is valuable in conditions characterized by high …