title: Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.
authors.affiliation: 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.
authors.forename: Hassan
authors.initials: H
authors.lastname: Vahidnezhad
authors.affiliation: 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.
authors.forename: Razieh
authors.initials: R
authors.lastname: Karamzadeh
authors.affiliation: Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA.
authors.forename: Amir Hossein
authors.initials: AH
authors.lastname: Saeidian
authors.affiliation: 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.
authors.forename: Leila
authors.initials: L
authors.lastname: Youssefian
authors.affiliation: Department of Dermatology, Children's Hospital Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Soheila
authors.initials: S
authors.lastname: Sotoudeh
authors.affiliation: Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Kawsar Human Genetics Research Center, Tehran, Iran.
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
authors.affiliation: Department of Pathology and Digestive Disease Research Institute, Shariati Hospital, Tehran University Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Vasei
authors.affiliation: Kawsar Human Genetics Research Center, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Golnabi
authors.affiliation: Department of Orthopedic Surgery, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Taghi
authors.initials: T
authors.lastname: Baghdadi
authors.affiliation: Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA. Electronic address: Jouni.Uitto@Jefferson.edu.
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D003240:Connective Tissue Diseases / Q000235:genetics / Q000503:physiopathology; D003483:Cutis Laxa / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D011379:Prognosis; D011762:Pyrroline Carboxylate Reductases / Q000235:genetics*; D012720:Severity of Illness Index; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase
chemical_list: D011762:Pyrroline Carboxylate Reductases; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase