FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2001003351> ?p ?o ?g. }

• W2001003351 endingPage "739" @default.
• W2001003351 startingPage "731" @default.
• W2001003351 abstract "Abstract Pyrroline‐5‐carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1 , was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of the hips and mental retardation. In this paper, we describe additional six patients (ages ranging from 4 months to 55 years) from four Iranian families with clinical manifestations of a wrinkly skin disorder. All patients have distinct facial features comprising triangular face, loss of adipose tissue and thin pointed nose. Additional features are short stature, wrinkling over dorsum of hand and feet, visible veins over the chest and hyperextensible joints. Three of the patients from a large consanguineous family do not have mental retardation, while the remaining three patients from three unrelated families have mental and developmental delay. Mutation analysis revealed the presence of disease‐causing variants in PYCR1 , including a novel deletion of the entire PYCR1 gene in one family, and in each of the other patients the homozygous missense mutations c.616G > A (p.Gly206Arg), c.89T > A (p.Ile30Lys) and c.572G > A (p.Gly191Glu) respectively, the latter two of which are novel. Light‐ and electron microscopy investigations of skin biopsies showed smaller and fragmented elastic fibres, abnormal morphology of the mitochondria and their cristae, and slightly abnormal collagen fibril diameters with irregular outline and variable size. In conclusion, this study adds information on the natural course of PYCR1 deficiency and sheds light on the pathophysiology of this disorder. However, the exact pathogenesis of this new disorder and the role of proline in the development of the clinical phenotype remain to be fully explained." @default.
• W2001003351 created "2016-06-24" @default.
• W2001003351 creator A5010666764 @default.
• W2001003351 creator A5013530894 @default.
• W2001003351 creator A5015329588 @default.
• W2001003351 creator A5022264377 @default.
• W2001003351 creator A5041800497 @default.
• W2001003351 creator A5044915027 @default.
• W2001003351 creator A5053986007 @default.
• W2001003351 creator A5058425533 @default.
• W2001003351 creator A5060448976 @default.
• W2001003351 creator A5060994528 @default.
• W2001003351 date "2011-04-13" @default.
• W2001003351 modified "2023-09-26" @default.
• W2001003351 title "Defect in proline synthesis: pyrroline‐5‐carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities" @default.
• W2001003351 cites W1519586751 @default.
• W2001003351 cites W1973989747 @default.
• W2001003351 cites W1974746092 @default.
• W2001003351 cites W1978495960 @default.
• W2001003351 cites W1979061879 @default.
• W2001003351 cites W1980138808 @default.
• W2001003351 cites W2003111893 @default.
• W2001003351 cites W2007719684 @default.
• W2001003351 cites W2015095581 @default.
• W2001003351 cites W2054248890 @default.
• W2001003351 cites W2062373946 @default.
• W2001003351 cites W2077021664 @default.
• W2001003351 cites W2101251758 @default.
• W2001003351 cites W2112126161 @default.
• W2001003351 cites W2132076028 @default.
• W2001003351 cites W2141854909 @default.
• W2001003351 cites W2150459172 @default.
• W2001003351 cites W2157647186 @default.
• W2001003351 cites W2402040460 @default.
• W2001003351 doi "https://doi.org/10.1007/s10545-011-9319-3" @default.
• W2001003351 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21487760" @default.
• W2001003351 hasPublicationYear "2011" @default.
• W2001003351 type Work @default.
• W2001003351 sameAs 2001003351 @default.
• W2001003351 citedByCount "25" @default.
• W2001003351 countsByYear W20010033512012 @default.
• W2001003351 countsByYear W20010033512013 @default.
• W2001003351 countsByYear W20010033512014 @default.
• W2001003351 countsByYear W20010033512017 @default.
• W2001003351 countsByYear W20010033512018 @default.
• W2001003351 countsByYear W20010033512019 @default.
• W2001003351 countsByYear W20010033512020 @default.
• W2001003351 countsByYear W20010033512021 @default.
• W2001003351 countsByYear W20010033512023 @default.
• W2001003351 crossrefType "journal-article" @default.
• W2001003351 hasAuthorship W2001003351A5010666764 @default.
• W2001003351 hasAuthorship W2001003351A5013530894 @default.
• W2001003351 hasAuthorship W2001003351A5015329588 @default.
• W2001003351 hasAuthorship W2001003351A5022264377 @default.
• W2001003351 hasAuthorship W2001003351A5041800497 @default.
• W2001003351 hasAuthorship W2001003351A5044915027 @default.
• W2001003351 hasAuthorship W2001003351A5053986007 @default.
• W2001003351 hasAuthorship W2001003351A5058425533 @default.
• W2001003351 hasAuthorship W2001003351A5060448976 @default.
• W2001003351 hasAuthorship W2001003351A5060994528 @default.
• W2001003351 hasBestOaLocation W20010033512 @default.
• W2001003351 hasConcept C104317684 @default.
• W2001003351 hasConcept C12125453 @default.
• W2001003351 hasConcept C126322002 @default.
• W2001003351 hasConcept C127716648 @default.
• W2001003351 hasConcept C134018914 @default.
• W2001003351 hasConcept C142724271 @default.
• W2001003351 hasConcept C2777871287 @default.
• W2001003351 hasConcept C2778745941 @default.
• W2001003351 hasConcept C2779815552 @default.
• W2001003351 hasConcept C2779869378 @default.
• W2001003351 hasConcept C2780942790 @default.
• W2001003351 hasConcept C515207424 @default.
• W2001003351 hasConcept C54355233 @default.
• W2001003351 hasConcept C71924100 @default.
• W2001003351 hasConcept C75563809 @default.
• W2001003351 hasConcept C86803240 @default.
• W2001003351 hasConceptScore W2001003351C104317684 @default.
• W2001003351 hasConceptScore W2001003351C12125453 @default.
• W2001003351 hasConceptScore W2001003351C126322002 @default.
• W2001003351 hasConceptScore W2001003351C127716648 @default.
• W2001003351 hasConceptScore W2001003351C134018914 @default.
• W2001003351 hasConceptScore W2001003351C142724271 @default.
• W2001003351 hasConceptScore W2001003351C2777871287 @default.
• W2001003351 hasConceptScore W2001003351C2778745941 @default.
• W2001003351 hasConceptScore W2001003351C2779815552 @default.
• W2001003351 hasConceptScore W2001003351C2779869378 @default.
• W2001003351 hasConceptScore W2001003351C2780942790 @default.
• W2001003351 hasConceptScore W2001003351C515207424 @default.
• W2001003351 hasConceptScore W2001003351C54355233 @default.
• W2001003351 hasConceptScore W2001003351C71924100 @default.
• W2001003351 hasConceptScore W2001003351C75563809 @default.
• W2001003351 hasConceptScore W2001003351C86803240 @default.
• W2001003351 hasIssue "3" @default.
• W2001003351 hasLocation W20010033511 @default.
• W2001003351 hasLocation W20010033512 @default.
• W2001003351 hasLocation W20010033513 @default.
• W2001003351 hasLocation W20010033514 @default.

• next