BAZ1,BAZ-1,BWSCR2-associated zinc finger protein 1,Homo sapiens,Human,Zinc finger protein 214,ZNF214
- Known as:
- BAZ1,BAZ-1,BWSCR2-associated zinc finger protein 1,Homo sapiens,Human,Zinc finger protein 214,ZNF214
- Catalog number:
- EIAAB47307
- Category:
- -
- Supplier:
- EIAab
- Gene target:
- BAZ1 BAZ-1 BWSCR2-associated zinc finger protein 1 Homo sapiens Human Zinc 214 ZNF214
Related genes to: BAZ1,BAZ-1,BWSCR2-associated zinc finger protein 1,Homo sapiens,Human,Zinc finger protein 214,ZNF214
- Gene:
- ZNF214 NIH gene
- Name:
- zinc finger protein 214
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 11p15.4
- Locus Type:
- gene with protein product
- Date approved:
- 1998-03-23
- Date modifiied:
- 2016-10-25
Related products to: BAZ1,BAZ-1,BWSCR2-associated zinc finger protein 1,Homo sapiens,Human,Zinc finger protein 214,ZNF214
Related articles to: BAZ1,BAZ-1,BWSCR2-associated zinc finger protein 1,Homo sapiens,Human,Zinc finger protein 214,ZNF214
- Cryptorchidism is a common congenital birth defect in human beings with the possible complication of infertility. An in vitro model of cryptorchidism might be valuable due to the inaccessibility of human embryos for research purposes. In this study, we reprogrammed urine cells containing genetic variations in insulin-like factor 3, zinc finger (ZNF) 214, and ZNF215 from a cryptorchid patient by introducing human OCT4, SOX2, C-MYC, and KLF4 with lentivirus. The cells were then replated on irradiated mouse embryonic fibroblasts and cultured with the human embryonic stem (ES) cell medium. The compact colonies with well-defined borders were manually picked, and 2 induced pluripotent cell lines were fully characterized. Our results demonstrated that these 2 cell lines were similar to human ES cells in morphological appearance, marker expression, and epigenetic status of the pluripotent cell-specific gene, OCT4. These cells could be differentiated into cells of all 3 germ layers in teratomas and in vitro, including into the VASA-positive germ cell lineage. Both parental urine cells and the reprogrammed cells possessed the normal karyotype and the same short tandem repeat loci, indicating that these 2 cell population share the same genetic identity. This establishment and characterization of human urine-derived cryptorchid-specific induced pluripotent stem cells could present a good human genetic system for future studies investigating the molecular mechanism of cryptorchidism. - Source: PubMed
Publication date: 2013/01/04
Zhou JunmeiWang XueZhang ShengliGu YijunYu LingWu JingGao TongbinChen Fang - We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined the duplication to approximately 2.29 megabases (Mb) in size. Testing the parents revealed that the father, who had learning disabilities and overgrowth, also had the 11p15.4 duplication, and the mother had a normal microarray. In addition, the patient's brother and grandmother all share clinical features with the proband and tested positive for the duplication. The duplicated region (Chr11:6,934,067-9,220,605) encompasses 29 genes, including the ZNF214 gene, which has been postulated to play a role in Beckwith-Wiedemann syndrome [Alders et al., 2000]. This three-generation pedigree outlines features of a novel microduplication syndrome. - Source: PubMed
Publication date: 2011/11/03
Sofos ElveraPescosolido Matthew FQuintos Jose BAbuelo DianneGunn ShellyHovanes KarineMorrow Eric MShur Natasha - Individuals with autism are more likely to carry rare inherited and de novo copy number variants (CNVs). However, further research is needed to establish which CNVs are causal and the mechanisms by which these CNVs influence autism. We examined genomic DNA of children with autism (N = 41) and healthy controls (N = 367) for rare CNVs using a high-resolution array comparative genomic hybridization platform. We show that individuals with autism are more likely to harbor rare CNVs as small as ∼ 10 kb, a threshold not previously detectable, and that CNVs in cases disproportionately affect genes involved in transcription, nervous system development, and receptor activity. We also show that a subset of genes that have known or suspected allele-specific or imprinting effects and are within rare-case CNVs may undergo loss of transcript expression. In particular, expression of CNTNAP2 and ZNF214 are decreased in probands compared with their unaffected transmitting parents. Furthermore, expression of PRODH and ARID1B, two genes affected by de novo CNVs, are decreased in probands compared with controls. These results suggest that for some genes affected by CNVs in autism, reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment. - Source: PubMed
Publication date: 2011/03/30
Nord Alex SRoeb WendyDickel Diane EWalsh TomKusenda MaryO'Connor Kristen LewisMalhotra DheerajMcCarthy Shane EStray Sunday MTaylor Susan MSebat Jonathan King BryanKing Mary-ClaireMcClellan Jon M - Although important advances in testicular physiology have been achieved, the aetiology of human cryptorchidism remains mostly unknown. Next to sex steroidal signaling pathways, morphogenetic genes are specifically involved in the testicular descent via gubernacular development. Mutations in the human genes encoding insulin-like factor 3 (INSL3) and its Leu-rich repeat-containing G protein-coupled receptor 8 (LGR8), homeobox A10 (HOXA10), zinc finger 214 (ZNF214) and 215 (ZNF215) have occasionally been identified but do not seem to be a frequent cause of cryptorchidism. On the other hand, common polymorphisms in these genes have recently been investigated as contributing risk factors for idiopathic isolated (nonsyndromic) cryptorchidism. - Source: PubMed
Publication date: 2010/11/01
Massart FrancescoSaggese G - The expression of sperm-specific genes is necessary in spermiogenesis, and the genetic polymorphism of these genes may impair spermatogenesis, leading to male infertility. Mamy investigations have been conducted on the polymorphism of some candidate genes that are specifically expressed in spermiogenesis, the relation of genetic polymorphism with male infertility and its possible mechanism. Further attempts have been made at the explanation of the causes of infertility from the genetic angle. - Source: PubMed
Li BoLan Feng-Hua