Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability

Hassan Vahidnezhad; Razieh Karamzadeh; Amir Hossein Saeidian; Leila Youssefian; Soheila Sotoudeh; Sirous Zeinali; Mohammad Vasei; Fatemeh Golnabi; Taghi Baghdadi; Jouni Uitto

doi:10.1016/j.jid.2016.10.007

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability

J Invest Dermatol. 2017 Feb;137(2):525-528. doi: 10.1016/j.jid.2016.10.007. Epub 2016 Oct 15.

Authors

Affiliations

¹ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
² Department of Biophysics, Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran; Department of Molecular Systems Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
³ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA.
⁴ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA; Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
⁵ Department of Dermatology, Children's Hospital Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
⁶ Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Kawsar Human Genetics Research Center, Tehran, Iran.
⁷ Department of Pathology and Digestive Disease Research Institute, Shariati Hospital, Tehran University Medical Sciences, Tehran, Iran.
⁸ Kawsar Human Genetics Research Center, Tehran, Iran.
⁹ Department of Orthopedic Surgery, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
¹⁰ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA. Electronic address: Jouni.Uitto@Jefferson.edu.

PMID: 27756598
DOI: 10.1016/j.jid.2016.10.007

No abstract available

Publication types

Letter

MeSH terms

Connective Tissue Diseases / genetics
Connective Tissue Diseases / physiopathology
Cutis Laxa / diagnosis
Cutis Laxa / genetics*
Female
Genetic Association Studies*
Genetic Predisposition to Disease / epidemiology*
Humans
Intellectual Disability / genetics*
Male
Mutation, Missense*
Prognosis
Pyrroline Carboxylate Reductases / genetics*
Severity of Illness Index
delta-1-Pyrroline-5-Carboxylate Reductase

Substances

Pyrroline Carboxylate Reductases