A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

Journal of Clinical Investigation

Volumn 125, Issue 11, 2015, Pages 4295-4304

  Weinberg Shukron, Ariella ^a,b   Renbaum, Paul ^a   Kalifa, Rachel ^c   Zeligson, Sharon ^a   Ben Neriah, Ziva ^d   Dreifuss, Amatzia ^c   Abu Rayyan, Amal ^e   Maatuk, Noa ^f   Fardian, Nilly ^c   Rekler, Dina ^c   Kanaan, Moien ^e   Samson, Abraham O ^f   Levy Lahad, Ephrat ^a,b   Gerlitz, Offer ^c   Zangen, David ^d  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e BETHLEHEM UNIVERSITY   (Palestine)

^f BAR ILAN UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOPORIN; NUCLEOPORIN 107; PROTEIN; SEH1 PROTEIN; UNCLASSIFIED DRUG; AQUAPORIN; DROSOPHILA PROTEIN; MULTIPROTEIN COMPLEX; NUP107 PROTEIN, DROSOPHILA; NUP107 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DROSOPHILA; FEMALE; FEMALE STERILITY; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR PORE COMPLEX; OOCYTE DEVELOPMENT; OVARY DEVELOPMENT; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROGENY; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; XX GONADAL DYSGENESIS; ADULT; ANIMAL; CONSANGUINITY; DEFICIENCY; DISEASE MODEL; DROSOPHILA MELANOGASTER; FEMALE INFERTILITY; GENETICS; MOLECULAR MODEL; MORPHOGENESIS; MOUSE; OVARY; OVUM; PATHOLOGY; PEDIGREE; PHYSIOLOGY; PROTEIN CONFORMATION; TRANSGENIC ANIMAL;

ADOLESCENT; ADULT; ANIMALS; ANIMALS, GENETICALLY MODIFIED; AQUAPORINS; CONSANGUINITY; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; FEMALE; GONADAL DYSGENESIS, 46,XX; HUMANS; INFERTILITY, FEMALE; MALE; MICE; MODELS, MOLECULAR; MORPHOGENESIS; MULTIPROTEIN COMPLEXES; MUTATION, MISSENSE; NUCLEAR PORE COMPLEX PROTEINS; OOGENESIS; OVARY; OVUM; PEDIGREE; PROTEIN CONFORMATION;

EID: 84946811221     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI83553     Document Type: Article

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