Victor L Ruiz-Perez Selected Research

Proteins (Proteins, Gene)

1/2023	EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.
1/2019	Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
1/2012	Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.
12/2009	Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
11/2009	Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
8/2007	Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.
1/2006	Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation.
4/2003	A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Victor L Ruiz-Perez Research Topics

Disease

4	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia) 01/2012 - 08/2007
2	Osteoporosis 08/2021 - 07/2010
2	Osteogenesis Imperfecta (Lobstein Disease) 05/2014 - 07/2010
2	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2006 - 04/2003
1	Ciliopathies 01/2023
1	Glioma (Gliomas) 10/2022
1	Dehydration (Water Stress) 08/2021
1	Intervertebral disc disease 08/2021
1	Back Pain (Backache) 08/2021
1	type 2 Syndactyly 01/2021
1	Muscular Diseases (Myopathy) 01/2019
1	Minicore Myopathy with External Ophthalmoplegia 01/2019
1	Congenital Abnormalities (Deformity) 01/2018
1	Neu Laxova syndrome 06/2015
1	Hypertrophy 01/2012
1	Bone Fractures (Bone Fracture) 07/2010
1	Weyers acrofacial dysostosis 11/2009
1	Tooth Abnormalities 11/2009

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2023 - 04/2003
2	Nonsense Codon (Nonsense Mutation)IBA 01/2018 - 06/2015
2	Collagen Type I (Type I Collagen)IBA 05/2014 - 07/2010
1	Transcription Factors (Transcription Factor)IBA 10/2022
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 10/2022
1	CollagenIBA 08/2021
1	MineralsIBA 08/2021
1	MAP-kinase-activated kinase 5IBA 01/2021
1	Protein Isoforms (Isoforms)IBA 01/2019
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2018
1	Serine (L-Serine)FDA Link 06/2015
1	Phosphoglycerate Dehydrogenase (Dehydrogenase, Phosphoglycerate)IBA 06/2015
1	Bone Morphogenetic Protein 1IBA 05/2014
1	Parathyroid Hormone-Related ProteinIBA 01/2012
1	Amino Acids FDA Link 11/2009
1	LigandsIBA 11/2009

Therapy/Procedure

1	Therapeutics 08/2021