New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 3, 2015, Pages 994-1001

  Bouilly, Justine ^a,b,h   Roucher Boulez, Florence ^c   Gompel, Anne ^d   Bry Gauillard, Hélène ^e,f   Azibi, Kemal ^g   Beldjord, Cherif ^g   Dodé, Catherine ^g   Bouligand, Jérôme ^a   Mantel, Anne Guiochon ^a,h   Hécart, Annie Claude ⁱ   Delemer, Brigitte ⁱ   Young, Jacques ^a,b,e   Binart, Nadine ^a,b,e  

^a INSERM   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c UNIVERSITÉ LYON 1   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e BICÊTRE HOSPITAL   (France)

^f Centre d'Aide Médicale à la Procréation   (France)

^g Université Paris Descartes ^*  (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ REIMS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 9; STEM CELL FACTOR; HOMEODOMAIN PROTEIN; NOBOX PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ACTIVITY; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE TARGETING; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NOBOX GENE; PREMATURE OVARIAN FAILURE; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; ADOLESCENT; DOWN REGULATION; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIMARY OVARIAN INSUFFICIENCY; YOUNG ADULT;

ADOLESCENT; ADULT; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION, MISSENSE; PRIMARY OVARIAN INSUFFICIENCY; STEM CELL FACTOR; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84925003950     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-2761     Document Type: Article

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