Yousef Shafeghati Selected Research

Peroxisomal Targeting Signal 2 Receptor

4/2013	Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.
1/2013	C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.

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Yousef Shafeghati Research Topics

Disease

3	Rhizomelic Chondrodysplasia Punctata 07/2014 - 01/2013
2	Micrognathism 01/2014 - 01/2013
2	Congenital Heart Defects (Congenital Heart Defect) 01/2014 - 01/2013
2	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 01/2013 - 05/2008
1	Glaucoma 01/2014
1	Disorders of Sex Development (Intersexuality) 01/2014
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2013
1	Seizures (Absence Seizure) 12/2013
1	Nervous System Diseases (Neurological Disorders) 12/2013
1	Paralysis (Palsy) 12/2013
1	Chromosome Aberrations (Chromosome Abnormalities) 10/2013
1	Intellectual Disability (Idiocy) 10/2013
1	Hypophosphatemic Rickets 01/2013
1	Metabolic Diseases (Metabolic Disease) 01/2013
1	Microcephaly 01/2013
1	Pulmonary Valve Stenosis (Pulmonary Stenosis) 01/2013
1	Muscle Hypotonia (Hypotonia) 01/2013
1	Patent Ductus Arteriosus 01/2013
1	Atrial Heart Septal Defects (Atrial Septal Defect) 01/2013
1	Hepatomegaly 01/2013
1	Hypertelorism 01/2013
1	Fanconi Syndrome (Syndrome, Fanconi) 01/2013
1	Breast Neoplasms (Breast Cancer) 01/2012
1	Rickets (Rachitis) 05/2008
1	Hyperparathyroidism 05/2008
1	Alopecia (Baldness) 05/2008
1	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 05/2008
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2007
1	Muscular Atrophy (Muscle Atrophy) 10/2007
1	Larsen Syndrome 02/2007
1	Laminopathies 08/2003

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 04/2013 - 02/2007
2	Peroxisomal Targeting Signal 2 ReceptorIBA 04/2013 - 01/2013
1	Ether (Diethyl Ether)IBA 07/2014
1	LipidsIBA 07/2014
1	PlasmalogensIBA 07/2014
1	PlasticsIBA 01/2014
1	miglustat (Zavesca)FDA Link 12/2013
1	GlycogenIBA 01/2013
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 01/2013
1	antineoplaston A10 (A 10)IBA 01/2013
1	Biomarkers (Surrogate Marker)IBA 01/2012
1	5' Untranslated Regions (5' UTR)IBA 01/2012
1	VitaminsIBA 05/2008
1	Alkaline PhosphataseIBA 05/2008
1	Calcitriol Receptors (Calcitriol Receptor)IBA 05/2008
1	hydroxide ionIBA 05/2008
1	Vitamin D FDA LinkGeneric 05/2008
1	Neuronal Apoptosis-Inhibitory ProteinIBA 10/2007
1	FilaminsIBA 02/2007
1	Lamin Type A (Lamin A)IBA 08/2003

Therapy/Procedure

1	Lenses 01/2014
1	Therapeutics 12/2013
1	Ligation 10/2013