LHX1 Antibody

1. Report novel missense mutation in LHX1 in congenital absence of the uterus and vagina which could change the transcriptional activity of LHX1 and its effect on the regulation of the downstream target gene GSC. PMID: 28061432
2. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. CONCLUSION(S): Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was approximately 19%. PMID: 28600106
3. Data have identified TBX6 as a new gene associated with Mullerian aplasia. The results also support the relevance of LHX1 and CNVs in the development of this congenital malformation. PMID: 23954021
4. study concludes that heterozygous mutations of LHX1 might be one cause of the Mayer-Rokitansky-Kuster-Hauser syndrome in a subgroup of patients PMID: 22740494
5. Data indicate that expression of ERAS, LHX1, and CCRK is increased in aggressive subgroups of medulloblastomas. PMID: 22875024
6. Lim1/LIM1 expression in neonatal, adult mouse and human endometrium suggesting Lim1/LIM1 may have a role in endometrial development and remodelling PMID: 22231913
7. Mutations in the coding regions of LHX1 may not be a common genetic etiologic factor involved in Han Chinese patients with mullerian duct abnormalities. PMID: 22217964
8. Eleven dysplastic kidneys showed no expression of LIM1. In contrast, 12 of 32 nephroblastomas showed nuclear positivity. PMID: 21778788
9. findings establish that the developmental marker Lim1 acts as an oncogene in cancer cells and targeting Lim1 may constitute an innovative therapeutic intervention in human lear cell carcinoma PMID: 21132009
10. Lim1 (also known as Lhx1) gene consists of a DNA-binding homeodomain and 2 cysteine-rich LIM domains, which may participate in protein to protein interactions, and encodes a transcription factor. PMID: 19849868

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HGNC: 6593

OMIM: 601999

KEGG: hsa:3975

STRING: 9606.ENSP00000254457

UniGene: Hs.443727