Recombinant Human Heart- and neural crest derivatives-expressed protein 1 (HAND1)

1. Strikingly, human pluripotent stem cell antibody array showed that Hand1 overexpression resulted in substantial decrease in pluripotency markers (Nanog, Oct3/4, Otx2, Flk1) suggesting that Hand1 expression may be essential to attenuate the EMT and our findings underscore a novel role for Hand1 in medulloblastoma metastasis. PMID:27297109
2. association of HAND1 loss-of-function mutation with increased susceptibility to Tetralogy of Fallot PMID:27942761
3. These findings expand the phenotypic spectrum linked to HAND1 mutations, suggesting potential implications for the development of novelo prophylactic and therapeutic strategies for DORV. PMID:28112363
4. HAND1 loss-of-function mutation is associated with familial dilated cardiomyopathy. PMID:26581070
5. Combined expression of NKX2-5, HAND1, and NOTCH1 coordinately contribute to cardiac malformations in Hhypoplastic left heart syndrome. PMID:25050861
6. These data show that miR-363 negatively regulates the expression of HAND1 PMID:24906886
7. Nuclear translocation of Hand-1 acts as a molecular switch to regulate vascular radiosensitivity in medulloblastoma tumors. PMID:24623737
8. DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot PMID:24182332
9. Increased methylation levels of HAND1 is associated with highly active Helicobacter pylori-related gastritis. PMID:23292007
10. This is the first report of mutations in the HAND1 gene in Chinese patients with VSD and provides new insight into the etiology of VSD PMID:22032825
11. Hand1 is dispensable for normal tyrosine hydroxylase and dopamine beta-hydroxylase expression in sympathetic neurons, even when Hand2 gene dosage is concurrently reduced by half. PMID:22323723
12. Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart. PMID:22043484
13. Mutations or sequence variations in HAND1 or NKX2-5 genes may play role in etiology or pathogenesis of atrial isomerism. PMID:21561848
14. Our study shows no evidence of somatic NKX2-5, GATA4 and HAND1 mutations playing a role in the pathogenesis of Tetralogy of Fallot . Findings suggest that the GATA4 and HAND1 germline mutations are associated with non-syndromic congenital heart disease. PMID:21519287
15. Hand1 lineage marks the proepicardial organ and epicardium necessary for epicardial and coronary vessel development, defining the epicardial precursors that are subsequently dependent on Hand2 function. PMID:21350214
16. effects of gene mutations on ventricular development PMID:12858532
17. MEF2/HAND1 interaction results in synergistic activation of MEF2-dependent promoters, and MEF2 binding sites are sufficient to mediate this synergy PMID:16043483
18. In 24 of 31 hypoplastic ventricles, a frameshift mutation was detected in the bHLH domain, which is necessary for DNA binding and combinatorial interactions; thus in hypoplastic human hearts HAND1 function is impaired. PMID:18276607
19. HMGA1 proteins bind directly to Hand1 promoter both in vitro and in vivo and inhibit Hand1 promoter activity PMID:19060921
20. HAND1 sequence mutations are frequent in human hearts with septation defects. PMID:19586923

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HGNC: 4807

UNIGENE: Hs.152531

KEGG: hsa:9421

STRING: 9606.ENSP00000231121

OMIM: 602406