Screening of mamld1 mutations in 70 children with 46,xy dsd: Identification and functional analysis of two new mutations

PLoS ONE

Volumn 7, Issue 3, 2012, Pages

  Kalfa, Nicolas ^a   Fukami, Maki ^b   Philibert, Pascal ^a   Audran, Francoise ^a   Pienkowski, Catherine ^c   Weill, Jacques ^d   Pinto, Graziella ^e   Manouvrier, Sylvie ^d   Polak, Michel ^e   Ogata, Totsumo ^b   Sultan, Charles ^a,f  

^a LAPEYRONIE HOSPITAL   (France)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c HÔPITAL DES ENFANTS   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; LUCIFERASE; MASTERMIND LIKE DOMAIN CONTAINING 1 PROTEIN; STEROID 5ALPHA REDUCTASE 2; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; MAMLD1 PROTEIN, HUMAN; MEMBRANE PROTEIN; MUTANT PROTEIN; NR5A1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SRD5A2 PROTEIN, HUMAN; STEROID 5ALPHA REDUCTASE; STEROIDOGENIC FACTOR 1;

AR GENE; ARTICLE; CAUCASIAN; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HYPOSPADIAS; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MAMLD1 GENE; MASTERMIND LIKE DOMAIN CONTAINING 1 GENE; MICROPENIS; MUTATIONAL ANALYSIS; NEWBORN; NRF5A1 GENE; SEX DIFFERENTIATION DISORDER; SRD5A2 GENE; TRANSACTIVATION; VIRILIZATION; X CHROMOSOME; Y CHROMOSOME; CHEMICAL STRUCTURE; CHEMISTRY; DNA SEQUENCE; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN CONFORMATION; PROTEIN TERTIARY STRUCTURE; TRANSCRIPTION INITIATION;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; 46, XY DISORDERS OF SEX DEVELOPMENT; BASE SEQUENCE; CHILD; DNA-BINDING PROTEINS; FEMALE; GENETIC TESTING; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, ANDROGEN; SEQUENCE ANALYSIS, DNA; STEROIDOGENIC FACTOR 1; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION;

EID: 84859127320     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0032505     Document Type: Article

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