Sian Ellard Selected Research

Hepatocyte Nuclear Factor 1-beta

7/2008	Transcription factor HNF1beta and novel partners affect nephrogenesis.
7/2008	Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.
4/2008	Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes.
4/2007	Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion.
5/2004	Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations.
5/2003	Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
12/2002	Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene.
4/2002	Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
10/2001	Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.

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Sian Ellard Research Topics

Disease

37	Type 2 Diabetes Mellitus (MODY) 01/2022 - 12/2002
28	Hypoglycemia (Reactive Hypoglycemia) 01/2021 - 01/2003
26	Hyperglycemia 01/2021 - 12/2002
21	Congenital Hyperinsulinism 01/2020 - 07/2008
20	Diabetes Mellitus 01/2022 - 12/2002
20	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 12/2020 - 01/2003
18	Mason-Type Diabetes 01/2016 - 12/2002
9	Hyperinsulinism (Hyperinsulinemia) 02/2019 - 05/2004
9	Permanent Neonatal Diabetes Mellitus 03/2014 - 04/2007
6	Insulin Resistance 03/2018 - 10/2003
6	Cysts 02/2015 - 10/2001
5	Ketosis 08/2018 - 04/2004
5	Acromegaly 09/2017 - 11/2012
4	Seizures (Absence Seizure) 10/2021 - 07/2009
4	Neoplasms (Cancer) 12/2020 - 07/2011
4	Diabetic Ketoacidosis (Ketoacidosis, Diabetic) 01/2020 - 09/2007
4	Disease Progression 01/2018 - 12/2016
3	Neurodevelopmental Disorders 01/2022 - 01/2021
3	Mitochondrial Diseases (Mitochondrial Disease) 10/2021 - 01/2019
3	Familial Isolated Pituitary Adenoma 01/2020 - 08/2010
3	Liver Diseases (Liver Disease) 01/2020 - 10/2014
3	Neuroendocrine Tumors (Neuroendocrine Tumor) 01/2020 - 07/2011
3	Pituitary Neoplasms (Pituitary Adenoma) 01/2018 - 01/2016
3	3-Hydroxyacyl-CoA Dehydrogenase Deficiency 06/2015 - 07/2009
3	Megaloblastic Anemia 08/2013 - 05/2013
3	Deafness (Deaf Mutism) 08/2013 - 04/2008
2	Uniparental Disomy 07/2022 - 01/2008
2	Intellectual Disability (Idiocy) 01/2022 - 10/2021
2	Hearing Loss (Hearing Impairment) 01/2022 - 05/2013
2	Polycystic Kidney Diseases (Polycystic Kidney Disease) 12/2021 - 01/2017
2	Microcephaly 01/2021 - 10/2013
2	Birth Weight (Birth Weights) 01/2020 - 04/2008
2	Hypopituitarism (Sheehan's Syndrome) 01/2020 - 11/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 01/2018
2	Insulinoma 01/2020 - 05/2015
2	Weight Gain 01/2020 - 08/2018
2	Cakut 12/2019 - 07/2008
2	Hyperplasia 01/2019 - 11/2008
2	Developmental Delay, Epilepsy, and Neonatal Diabetes 01/2018 - 09/2010
2	Lipodystrophy 01/2018 - 01/2004
2	Gigantism 09/2017 - 01/2017
2	Fanconi Syndrome (Syndrome, Fanconi) 07/2017 - 03/2014
2	Exocrine Pancreatic Insufficiency 01/2016 - 03/2013
2	Solitary Kidney 02/2015 - 04/2002
2	Kidney Diseases (Kidney Disease) 02/2015 - 12/2002
2	Hypothyroidism 12/2014 - 09/2012
2	Gestational Diabetes (Gestational Diabetes Mellitus) 06/2014 - 01/2014
2	Anemia 08/2013 - 05/2013
2	Multiple Endocrine Neoplasia Type 1 07/2011 - 03/2008

Drug/Important Bio-Agent (IBA)

53	Insulin (Novolin)FDA Link 01/2022 - 12/2002
24	GlucokinaseIBA 01/2020 - 09/2003
18	Adenosine Triphosphate (ATP)IBA 01/2020 - 11/2004
16	Glucose (Dextrose)FDA LinkGeneric 01/2020 - 06/2005
15	KATP ChannelsIBA 01/2021 - 03/2006
13	AutoantibodiesIBA 01/2022 - 09/2007
13	Diazoxide (Hyperstat)FDA Link 02/2019 - 06/2008
12	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2002
10	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 03/2008
10	Transcription Factors (Transcription Factor)IBA 01/2018 - 05/2004
10	Hepatocyte Nuclear Factor 1-alpha (Hepatocyte Nuclear Factor 1 alpha)IBA 05/2013 - 12/2002
9	C-PeptideIBA 12/2020 - 11/2008
9	Hepatocyte Nuclear Factor 1-betaIBA 07/2008 - 10/2001
7	Hepatocyte Nuclear FactorsIBA 01/2020 - 05/2003
7	aryl hydrocarbon receptor-interacting proteinIBA 01/2020 - 08/2010
6	Blood Glucose (Blood Sugar)IBA 01/2020 - 06/2005
6	EnzymesIBA 01/2018 - 06/2005
5	Biomarkers (Surrogate Marker)IBA 01/2018 - 05/2012
5	Thiamine (Aneurin)FDA Link 08/2013 - 06/2012
5	Sulfonylurea ReceptorsIBA 06/2011 - 03/2006
4	Glyburide (Glibenclamide)FDA LinkGeneric 01/2021 - 03/2005
4	Octreotide (Sandostatin)FDA LinkGeneric 01/2018 - 11/2012
4	Sirolimus (Rapamycin)FDA Link 01/2018 - 03/2014
4	PotassiumIBA 03/2014 - 11/2007
3	Metformin (Glucophage)FDA LinkGeneric 12/2018 - 10/2003
3	Hepatocyte Nuclear Factor 1IBA 06/2012 - 02/2011
2	ElementsIBA 07/2022 - 12/2009
2	Transfer RNA (tRNA)IBA 01/2022 - 10/2013
2	phosphomannomutaseIBA 12/2021 - 01/2017
2	Kainic Acid Receptors (Kainate Receptor)IBA 11/2021 - 01/2021
2	P-2 (P 2)IBA 01/2020 - 10/2016
2	MagnesiumIBA 09/2019 - 05/2009
2	ElectrolytesIBA 09/2019 - 02/2015
2	HLA-DR Antigens (HLA-DR)IBA 01/2018 - 05/2017
2	Amino Acids FDA Link 09/2017 - 05/2007
2	Hypoglycemic Agents (Hypoglycemics)IBA 07/2017 - 07/2009
2	Somatostatin (Somatotropin Release-Inhibiting Factor)IBA 06/2016 - 10/2014
2	Hemoglobins (Hemoglobin)IBA 01/2016 - 11/2008
2	Hormones (Hormone)IBA 01/2015 - 11/2010
2	Pharmaceutical PreparationsIBA 01/2014 - 09/2003
2	NFI Transcription FactorsIBA 05/2013 - 09/2006
2	Nonsense Codon (Nonsense Mutation)IBA 05/2013 - 11/2012
2	Hepatocyte Nuclear Factor 4IBA 06/2012 - 02/2011
2	AntibodiesIBA 09/2011 - 11/2008
2	Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA 09/2011 - 05/2011

Therapy/Procedure

21	Therapeutics 01/2020 - 03/2005
6	Glycemic Control 01/2021 - 11/2003
5	Pancreatectomy 06/2016 - 01/2010
2	Radiotherapy 01/2020 - 11/2012
2	Enzyme Replacement Therapy 08/2018 - 03/2013
2	Injections 01/2018 - 02/2008