|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutation of fumarate hydratase (FH) at 1q43 is known to cause the Mendelian syndromes of multiple cutaneous and uterine leiomyomata (MCL) and hereditary leiomyomatosis and renal cell cancer (HLRCC), and recently, FH mutations have been detected in some non-syndromic UL.
|
17613550 |
2007 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We show that FH mutations alter significantly the expression profiles of fibroids, most strikingly increasing the expression of genes involved in glycolysis.
|
16319128 |
2006 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.
|
16309500 |
2006 |
|
Uterine Fibroids
|
0.200 |
Biomarker
|
group |
BEFREE |
To explore this possibility we have developed a highly specific antibody to FH and analysed a series of forty-five fresh-frozen uterine leiomyomas and nine leiomyosarcomas for FH expression.
|
15949892 |
2006 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In MCUL kindreds, the majority of females with FH mutations have both skin and uterine leiomyomas.
|
16029320 |
2005 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas (HPGL).
|
15987702 |
2005 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.
|
15761418 |
2005 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Of 67 women with FH mutations, 46 (69%) had both skin and uterine leiomyomas; 10 (15%) had only skin leiomyomas; 5 (7%) had only uterine leiomyomas; and 6 (9%) were clinically unaffected.
|
15724016 |
2005 |
|
Uterine Fibroids
|
0.200 |
Biomarker
|
group |
BEFREE |
These data indicate that loss of FH might be a significant event in the pathogenesis of a subset of nonsyndromic ULs.
|
15334541 |
2004 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Although mutation search in the 299 malignant tumors was negative, somatic FH mutations were found in two nonsyndromic leiomyomas; a splice site change IVS4 + 3A>G, leading to deletion of exon four, and a missense mutation Ala196Thr.
|
14695314 |
2004 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
|
14632190 |
2003 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our findings indicate that mutations in fumarate hydratase do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas
|
12177782 |
2002 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
|
11283798 |
2001 |
|
Uterine Fibroids
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
|
|
|