Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics

Volumn 97, Issue 3, 2015, Pages 483-492

  Fischer Zirnsak, Björn ^a,b   Escande Beillard, Nathalie ^c   Ganesh, Jaya ^d   Tan, Yu Xuan ^c   Al Bughaili, Mohammed ^a   Lin, Angela E ^e   Sahai, Inderneel ^e   Bahena, Paulina ^f   Reichert, Sara L ^d   Loh, Abigail ^g   Wright, Graham D ^c   Liu, Jaron ^c   Rahikkala, Elisa ^h   Pivnick, Eniko K ⁱ   Choudhri, Asim F ^i,j   Krüger, Ulrike ^a   Zemojtel, Tomasz ^a,k   Van Ravenswaaij Arts, Conny ^l   Mostafavi, Roya ⁱ   Stolte Dijkstra, Irene ^l   Symoens, Sofie ^m   Pajunen, Leila ^h   Al Gazali, Lihadh ⁿ   Meierhofer, David ^b   Robinson, Peter N ^a,b   Mundlos, Stefan ^a,b   Villarroel, Camilo E ^f   Byers, Peter ^o   Masri, Amira ^p   Robertson, Stephen P ^q   Schwarze, Ulrike ^o   Callewaert, Bert ^m   Reversade, Bruno ^c,g,r   Kornak, Uwe ^a,b   more..

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^g INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^h UNIVERSITY OF OULU   (Finland)

ⁱ UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^j LE BONHEUR CHILDREN S HOSPITAL   (United States)

^k Labor Berlin GmbH   (Germany)

^l UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^m GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁿ UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^o UNIVERSITY OF WASHINGTON   (United States)

^p UNIVERSITY OF JORDAN   (Jordan)

^q UNIVERSITY OF OTAGO   (New Zealand)

^r NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

more..

Author keywords

ALDH18A1; cutis laxa; De Barsy syndrome; mitochondria; P5CS; progeroid syndrome; proline metabolism; PYCR1; pyrroline 5 carboxylate synthase

Indexed keywords

ARGININE; PYRROLINE 5 CARBOXYLATE SYNTHASE; SYNTHETASE; UNCLASSIFIED DRUG; ORNITHINE OXOACID AMINOTRANSFERASE; PROLINE;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CUTIS LAXA; DNA DETERMINATION; ENZYME ACTIVITY; FIBROBLAST; GEL ELECTROPHORESIS; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; AMINO ACID SEQUENCE; CASE REPORT; CORNEA OPACITY; DNA SEQUENCE; DOMINANT GENE; GENETICS; INTELLECTUAL IMPAIRMENT; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; SEQUENCE ALIGNMENT; SKIN; SPECIES DIFFERENCE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CORNEAL OPACITY; CUTIS LAXA; GENES, DOMINANT; HUMANS; INTELLECTUAL DISABILITY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; ORNITHINE-OXO-ACID TRANSAMINASE; PEDIGREE; PROLINE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SKIN; SPECIES SPECIFICITY;

EID: 84941024648     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.08.001     Document Type: Article

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