Jozef Gecz Selected Research

Intellectual Disability (Idiocy)

1/2022	In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
1/2021	A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract.
1/2020	An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.
11/2019	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
1/2019	Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
1/2019	A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.
1/2019	A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
1/2019	Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
1/2018	A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
1/2018	O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.

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Jozef Gecz Research Topics

Disease

31	Intellectual Disability (Idiocy) 01/2022 - 02/2005
11	Epilepsy (Aura) 09/2021 - 04/2008
10	X-Linked Mental Retardation (Mental Retardation, X Linked) 05/2010 - 11/2002
7	Neurodevelopmental Disorders 10/2022 - 01/2018
6	Seizures (Absence Seizure) 01/2020 - 02/2007
4	Neoplasms (Cancer) 01/2020 - 04/2010
4	Autistic Disorder (Autism) 01/2019 - 02/2010
4	Ataxia (Dyssynergia) 08/2017 - 04/2008
3	Microcephaly 01/2022 - 04/2008
2	Nervous System Diseases (Neurological Disorders) 01/2022 - 06/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 08/2015
2	Autism Spectrum Disorder 11/2019 - 02/2015
2	Cognitive Dysfunction 01/2017 - 11/2007
2	Infantile Spasms (West Syndrome) 12/2016 - 01/2013
2	Megalencephaly 02/2010 - 02/2007
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022
1	Cerebral Palsy (Spastic Diplegia) 01/2022
1	Muscle Hypotonia (Hypotonia) 01/2022
1	Cataract (Cataracts) 01/2021
1	Mental Disorders (Mental Disorder) 10/2019
1	Vesicular Stomatitis 01/2019
1	Pain (Aches) 01/2019
1	Congenital Disorders of Glycosylation 01/2019
1	Growth Disorders 01/2018
1	Overweight 01/2018
1	Febrile Seizures (Febrile Seizure) 12/2016
1	Edema (Dropsy) 12/2016
1	XX Disorders of Sex Development 46 (Female Pseudohermaphroditism) 11/2016
1	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 11/2016
1	Hypothyroidism 10/2016
1	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation 06/2015
1	Tuberous Sclerosis (Bourneville's Disease) 05/2014
1	Partial Epilepsies (Epilepsy, Partial) 05/2014
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 04/2013
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2012
1	Scoliosis 05/2011
1	Myoclonus (Nocturnal Myoclonus) 05/2011
1	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 12/2010

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2021 - 12/2006
6	Transcription Factors (Transcription Factor)IBA 12/2019 - 04/2010
6	DNA (Deoxyribonucleic Acid)IBA 11/2016 - 02/2005
3	Transfer RNA (tRNA)IBA 01/2022 - 12/2015
3	Cell Adhesion MoleculesIBA 01/2022 - 01/2017
3	NucleotidesIBA 01/2020 - 03/2007
3	O-GlcNAc transferaseIBA 01/2020 - 01/2017
3	Messenger RNA (mRNA)IBA 01/2020 - 08/2015
3	ChromatinIBA 12/2019 - 12/2016
3	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2019 - 03/2009
3	polyalanineIBA 12/2016 - 01/2013
2	OligonucleotidesIBA 01/2022 - 08/2010
2	EnzymesIBA 01/2022 - 05/2015
2	NeurosteroidsIBA 09/2021 - 09/2015
2	Histone DemethylasesIBA 12/2019 - 02/2010
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2019 - 02/2007
2	Hormones (Hormone)IBA 01/2019 - 10/2016
2	CalciumIBA 11/2018 - 05/2010
2	Amino Acids FDA Link 01/2017 - 02/2007
2	Pregnanolone (Allopregnanolone)IBA 01/2017 - 09/2015
2	Nonsense Codon (Nonsense Mutation)IBA 12/2006 - 02/2006
1	Deubiquitinating EnzymesIBA 10/2022
1	MorpholinosIBA 01/2021
1	Long Noncoding RNAIBA 01/2021
1	Progesterone Receptors (Progesterone Receptor)IBA 01/2021
1	Heterogeneous-Nuclear Ribonucleoproteins (Informatin)IBA 01/2021
1	CholesterolIBA 01/2021
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2020
1	Protons (Proton)IBA 01/2019
1	OligosaccharidesIBA 01/2019
1	RNA Polymerase II (RNA Polymerase B)IBA 01/2019
1	AlkaliesIBA 01/2019
1	Transcription Factor AP-1 (Transcription Factor AP 1)IBA 01/2019
1	Transferrin (beta 2 Transferrin)IBA 01/2019
1	CationsIBA 01/2019
1	Membrane Glycoproteins (Membrane Glycoprotein)IBA 01/2019
1	Glycoproteins (Glycoprotein)IBA 01/2019
1	Mutant Proteins (Protein, Mutant)IBA 01/2019
1	Atovaquone (Mepron)FDA Link 01/2019
1	N-acetyltryptophanamide (NATA)IBA 01/2018
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2018
1	Glutamate Receptors (Glutamate Receptor)IBA 08/2017
1	AcetylglucosamineIBA 01/2017
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2017
1	Protein Isoforms (Isoforms)IBA 12/2016
1	fibroblast growth factor 13IBA 12/2016
1	Ion Channels (Ion Channel)IBA 11/2016
1	5' Untranslated Regions (5' UTR)IBA 11/2016
1	Immunoglobulins (Immunoglobulin)IBA 10/2016
1	AnticodonIBA 12/2015
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 06/2015
1	Ubiquitin-Specific ProteasesIBA 03/2015
1	ubiquitin isopeptidaseIBA 03/2015
1	Interleukin-1 Receptor Accessory ProteinIBA 02/2015
1	TOR Serine-Threonine KinasesIBA 05/2014
1	A-factor (Streptomyces)IBA 05/2013
1	SNARE Proteins (SNAREs)IBA 04/2013
1	Phosphotransferases (Kinase)IBA 05/2011
1	SterolsIBA 12/2010

Therapy/Procedure

3	Therapeutics 01/2022 - 05/2014
1	Surgical Instruments (Clip) 01/2019
1	Induced Hyperthermia (Thermotherapy) 12/2016