Absence of mutations involving the lim homeobox domain gene LDX9 in 46,XY gonadal agenesis and dysgenesis

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 6, 2001, Pages 2465-2469

  Ottolenghi, Chris ^a,b   Moreira Filho, Carlos ^c   Mendonça, Berenice B ^c   Barbieri, Marcello ^b   Fellous, Marc ^a   Berkovitz, Gary D ^d   Mcelreavey, Ken ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITY OF FERRARA   (Italy)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; CHROMOSOME 1; EMBRYO; GENE INACTIVATION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC CONSERVATION; GONAD FUNCTION; GONADAL AGENESIS; GONADAL DYSGENESIS; HOMEOBOX; HUMAN; HUMAN TISSUE; KARYOTYPE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SEX DETERMINATION;

MURINAE;

EID: 0034977110     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.6.7539     Document Type: Article

References (20)

1. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development
2. Evidence to exclude SOX9 as a candid ate gene for XY sex reversal without skeletal malformation
3. Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis
4. Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome
5. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators
6. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain
7. The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript
8. Gonadal agenesis in a phenotypically normal female with positive H-Y antigen
9. Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene
10. Testicular regression syndrome - A pathological study of 77 cases
11. Embryonic testicular regression sequence: A part of the clinical spectrum of 46,XY gonadal dysgenesis
12. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
13. A clinical overview of WT1 gene mutations
14. The LIM homeobox gene Lhx9 is essential for mouse gonad formation
15. Abnormalities of gonadal determination and differentiation
16. Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development
17. Characterization of Lhx9, a novel LLM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex
18. Lhx9 and lhx9α LLM-homeodomain factors: Genomic structure, expression patterns, chromosomal localization, and phylogenetic analysis
19. Functions of LIM-homeobox genes
20. Lhx9: A novel LIM-homeodomain gene expressed in the developing forebrain