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John Tolmie Selected Research

Growth mental deficiency syndrome of Myhre

8/2014SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
12/2011Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
11/2011Clinical features and respiratory complications in Myhre syndrome.

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John Tolmie Research Topics

Disease

3Growth mental deficiency syndrome of Myhre
08/2014 - 11/2011
1Inborn Genetic Diseases (Disease, Hereditary)
05/2017
1Campomelic Dysplasia
05/2017
1Marfan Syndrome (Marfan's Syndrome)
08/2014
1Ataxia (Dyssynergia)
10/2013
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
02/2013
1Neuromuscular Diseases (Neuromuscular Disease)
02/2013
1Neoplasms (Cancer)
04/2012
1Tracheal Stenosis
11/2011
1Delayed Puberty
05/2011
1Microcephaly
05/2010
1Optic Atrophy
05/2010
1X-Linked Mental Retardation (Mental Retardation, X Linked)
05/2010
1Hypoparathyroidism
02/2007
1Deafness (Deaf Mutism)
02/2007
1Diabetic Retinopathy (Retinopathy, Diabetic)
01/2007
1Hyperopia (Hypermetropia)
01/2007
1Hypertension (High Blood Pressure)
01/2007
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
01/2007
1Multiple pterygium syndrome
08/2006
1Embryonal Rhabdomyosarcoma
11/2004
1Aneuploidy (Aneuploid)
11/2004
1Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
04/2003

Drug/Important Bio-Agent (IBA)

2Codon (Codons)IBA
05/2017 - 12/2011
2Proteins (Proteins, Gene)FDA Link
02/2013 - 11/2004
2DNA (Deoxyribonucleic Acid)IBA
11/2011 - 02/2007
2Growth Hormone (Somatotropin)IBA
05/2011 - 01/2007
1Initiator Codon (Start Codon)IBA
05/2017
15' Untranslated Regions (5' UTR)IBA
05/2017
1Antihypertensive Agents (Antihypertensives)IBA
08/2014
1Angiotensin II Type 1 Receptor BlockersIBA
08/2014
1Losartan (Cozaar)FDA LinkGeneric
08/2014
1protein kinase C gamma (PRKCG)IBA
10/2013
1DystrophinIBA
02/2013
1ChromatinIBA
04/2012
1Transforming Growth Factors (Transforming Growth Factor)IBA
12/2011
1Protein Kinases (Protein Kinase)IBA
05/2010
1CalciumIBA
05/2010
1Calmodulin (Calcium-Dependent Activator Protein)IBA
05/2010
1Serine (L-Serine)FDA Link
05/2010
1GATA3 Transcription FactorIBA
02/2007
1CortisoneFDA Link
01/2007
1SteroidsIBA
01/2007
1Cholinergic ReceptorsIBA
08/2006
1Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA
04/2003

Therapy/Procedure

1Tracheotomy
11/2011
1Lasers (Laser)
11/2011
1Therapeutics
01/2007