The clinical and genetic characterisation of young-onset diabetes

The clinical and genetic characterisation of young-onset diabetes

<p>Maturity-onset diabetes of the young (MODY), due to hepatocyte nuclear factor 1 alpha mutations (HNF1A-MODY), is the most common form of monogenic diabetes presenting in young adults. An accurate genetic diagnosis of HNF1A-MODY has therapeutic implications for the patients and their family...

书目详细资料
主要作者:	Mughal, S
其他作者:	Owen, K
格式:	Thesis
语言:	English
出版:	2014
主题:	Diabetes Endocrinology Genetics (medical sciences) Medical Sciences

相似书籍

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
由: Beer, N, et al.
出版: (2011)

Mechanisms of Type 2 diabetes susceptibility
由: Travers, M, et al.
出版: (2013)

The role of glucose-6-phosphatase catalytic domain in glucose homeostasis
由: Ng, NHJ
出版: (2016)

The role of the G-protein subunit, G-alpha-11, and the adaptor protein 2 sigma subunit, ap2-sigma-2, in the regulation of calcium homeostasis
由: Howles, S
出版: (2015)

Gene modifiers and novel therapies for multiple endocrine neoplasia type 1
由: Javid, M
出版: (2012)

A new era for Type 2 diabetes genetics
由: Zeggini, E
出版: (2007)

The role of the transcription factor GATA3 in calcium homeostasis and tumourigenesis
由: Gaynor, K, et al.
出版: (2011)

Elucidating mechanisms of premature ovarian failure using a transgenic mouse model
由: Kaune Galaz, H
出版: (2015)

TCF7L2: the biggest story in diabetes genetics since HLA?
由: Zeggini, E, et al.
出版: (2007)

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young
由: Sarah M. Graff, et al.
出版: (2021-07-01)

Functional characterisation of a multiple sclerosis-associated genetic variant
由: Gregory, A
出版: (2012)

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to Type 2 diabetes
由: Jafar-Mohammadi, B, et al.
出版: (2009)

Relationship of low molecular weight fluorophore levels with clinical factors and fenofibrate effects in adults with type 2 diabetes
由: Januszewski, Andrzej S., et al.
出版: (2021)

The identification and characterisation of germline genetic variants that affect human cancer
由: Zeron-Medina Cuairan, J
出版: (2013)

Characterisation of pitch: an early onset model of sensorineural deafness
由: Carrott, L
出版: (2014)

The molecular genetics of insulin secretion and signalling
由: McCulloch, L, et al.
出版: (2011)

Cell adhesion and signalling at implantation
由: Kang, Y
出版: (2012)

Analysis of mouse models of insulin secretion disorders
由: Kaizik, S
出版: (2010)

Genetic susceptibility to endometrial cancer
由: Cheng, T
出版: (2015)

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.
由: Männikkö, R, et al.
出版: (2011)

Real-world effectiveness of azvudine versus nirmatrelvir-ritonavir in hospitalized patients with COVID-19 and pre-existing diabetes
由: Guanyue Su, et al.
出版: (2025-02-01)

Understanding the role of islet development in type 2 diabetes susceptibility
由: Pérez Alcántara, MC
出版: (2019)

Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition
由: Zeggini, E, et al.
出版: (2005)

Investigating HMGB1 as a potential serum biomarker for early diabetic nephropathy monitoring by quantitative proteomics
由: Rui Peng, et al.
出版: (2024-02-01)

The evaluation of the contribution of low frequency, intermediate penetrance sequence variants to the pathogenesis of Type 2 Diabetes
由: Jafar-Mohammadi, B
出版: (2012)

Preimplantation genetic diagnosis - new methods for the detection of genetic abnormalities in human preimplantation embryos
由: Konstantinidis, M
出版: (2013)

Acute Management of Pediatric Diabetic Ketoacidosis
由: Janine Zee-Cheng, et al.
出版: (2015-09-01)

A network-based study reveals multimorbidity patterns in people with type 2 diabetes
由: Zizheng Zhang, et al.
出版: (2023-10-01)

Molecular Genetics of Language Impairment
由: Nudel, R
出版: (2015)

Long-term effect of acute ischemic injury on the kidney underwent clamped partial nephrectomy
由: Zhaohui Zhou, et al.
出版: (2023-09-01)

Investigation of expression quantitative trait loci and regulatory genetic variants in primary human immune cells
由: Makino, S
出版: (2013)

Type 1 diabetes mellitus and multiple sclerosis: common etiological features
由: Handel, A, et al.
出版: (2009)

The peoples of Britain: population genetics, archaeology and linguistics
由: Royrvik, E
出版: (2012)

Genetic mapping of variation in spatial learning in the mouse
由: Steinberger, D, et al.
出版: (2003)

Mechanisms of genome regulation in human islets and their role in the pathogenesis of type 2 diabetes
由: van de Bunt, G, et al.
出版: (2014)

Comparison of different therapies for neonatal diabetes – glibenclamide vs insulin
由: Iberl, M
出版: (2012)

Genetic susceptibility to common mycobacterial diseases
由: Wong, H
出版: (2010)

Translation and performance of the Finnish Diabetes Risk Score for detecting undiagnosed diabetes and dysglycaemia in the Indonesian population
由: Rokhman, M. Rifqi, et al.
出版: (2022)

The genetics of amyotrophic lateral sclerosis
由: Schymick, J
出版: (2009)

Adverse effects of gestational diabetes mellitus on fetal monocytes revealed by single-cell RNA sequencing
由: Min Yin, et al.
出版: (2024-01-01)