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排序方式: 共有159条查询结果,搜索用时 15 毫秒
1.
Parith Wongkittichote Tae-Ik Choi Oc-Hee Kim Kacie Riley Dwight Koeberl Vinodh Narayanan Keri Ramsey Chris Balak Charles E. Schwartz Anna Maria Cueto-Gonzalez Francina Munell Casadesus Cheol-Hee Kim Marwan S. Shinawi 《Clinical genetics》2023,103(2):167-178
ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been associated with Wieacker-Wolff syndrome (MIM# 314580), an X-linked neurodevelopmental disorder characterized by arthrogryposis, development delay, hypotonia, feeding difficulties, poor growth, skeletal abnormalities, and dysmorphic features. Zebrafish zc4h2 null mutants recapitulated the human phenotype, showed complete loss of vsx2 expression in brain, and exhibited abnormal swimming and balance problems. Here we report 7 new patients (four males and three females) with ZC4H2-related disorder from six unrelated families. Four of the 6 ZC4H2 variants are novel: three missense variants, designated as c.142T>A (p.Tyr48Asn), c.558G>A (p.Met186Ile) and c.602C>T (p.Pro201Leu), and a nonsense variant, c.618C>A (p.Cys206*). Two variants were previously reported : a nonsense variant c.199C>T (p.Arg67*) and a splice site variant (c.225+5G>A). Five patients were on the severe spectrum of clinical findings, two of whom had early death. The male patient harboring the p.Met186Ile variant and the female patient that carries the p.Pro201Leu variant have a relatively mild phenotype. Of note, 4/7 patients had a tethered cord that required a surgical repair. We also demonstrate and discuss previously under-recognized phenotypic features including sleep apnea, arrhythmia, hypoglycemia, and unexpected early death. To study the effect of the missense variants, we performed microinjection of human ZC4H2 wild-type or variant mRNAs into zc4h2 null mutant zebrafish embryos. The p.Met186Ile mRNA variant was able to partially rescue vsx2 expression while p.Tyr48Asn and p.Pro201Leu mRNA variants were not. However, swimming and balance problems could not be rescued by any of these variants. These results suggest that the p.Met186Ile is a hypomorphic allele. Our work expands the genotypes and phenotypes associated with ZC4H2-related disorder and demonstrates that the zebrafish system is a reliable method to determine the pathogenicity of ZC4H2 variants. 相似文献
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Richard J. Reynolds Ana I. Vazquez Vinodh Srinivasasainagendra Yann C. Klimentidis S. Louis BridgesJr. David B. Allison Jasvinder A. Singh 《Rheumatology international》2016,36(2):263-270
We hypothesized that serum urate-associated SNPs, individually or collectively, interact with BMI and renal disease to contribute to risk of incident gout. We measured the incidence of gout and associated comorbidities using the original and offspring cohorts of the Framingham Heart Study. We used direct and imputed genotypes for eight validated serum urate loci. We fit binomial regression models of gout incidence as a function of the covariates, age, type 2 diabetes, sex, and all main and interaction effects of the eight serum urate SNPs with BMI and renal disease. Models were also fit with a genetic risk score for serum urate levels which corresponds to the sum of risk alleles at the eight SNPs. Model covariates, age (P = 5.95E?06), sex (P = 2.46E?39), diabetes (P = 2.34E?07), BMI (P = 1.14E?11) and the SNPs, rs1967017 (P = 9.54E?03), rs13129697 (P = 4.34E?07), rs2199936 (P = 7.28E?03) and rs675209 (P = 4.84E?02) were all associated with incident gout. No BMI by SNP or BMI by serum urate genetic risk score interactions were statistically significant, but renal disease by rs1106766 was statistically significant (P = 6.12E?03). We demonstrated that minor alleles of rs1106766 (intergenic, INHBC) were negatively associated with the risk of incident gout in subjects without renal disease, but not for individuals with renal disease. These analyses demonstrate that a significant component of the risk of gout may involve complex interplay between genes and environment. 相似文献
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Grisanti Salvatore Ranjbar Mahdy Tura Ayseguel Heindl Ludwig M. Kakkassery Vinodh 《Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft》2020,117(6):508-520
Die Ophthalmologie - Die personalisierte Medizin in der onkologischen Betreuung von Patienten ist bestrebt, durch eine individuell angepasste Therapie das bestmögliche Ziel für den... 相似文献
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Kakkassery Vinodh Jnemann Anselm M. Bechrakis Nikolaos E. Grisanti Salvatore Ranjbar Mahdy Zschoche Marco Heindl Ludwig M. 《Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft》2020,117(6):499-507
Die Ophthalmologie - Die personalisierte Medizin ist mittlerweile Standard in der onkologischen Betreuung von Patienten. Ein Paradebeispiel stellt das Lymphom dar, das durch den intra- und... 相似文献
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Talal F. Al-Azemi Mickey Vinodh Fatemeh H. Alipour Abdirahman A. Mohamod 《RSC advances》2019,9(40):23295
Bulky perneopentyloxy-pillar[5]arene (Pillar-1) was synthesized and its conformational mobility was investigated using variable-temperature 1H NMR spectroscopy. The host–guest interactions between Pillar-1 and n-octyltrimethylammonium hexafluorophosphate (OMA) were investigated, and the formation of a 1 : 1 complex was revealed via1H NMR. Planar-chiral isomers were synthesized via the reaction of a hydroxy-functionalized pillar[5]arene with chiral derivatization agent (S)-(+)-MTPA-Cl. The (Sp, R)-and (Rp, R)-forms of the pillar[5]arene diastereomers were isolated by HPLC, and their structures were analyzed by 19F NMR. HPLC measurements indicated that racemization did not take place at 40 °C for 72 h.Bulky perneopentyloxy-pillar[5]arene was synthesized. Complexation behavior and conformational mobility were investigated using 1H NMR spectroscopy. Isolation of planar-chiral pillar[5]arenes using a chiral derivatization agent were carried out. 相似文献
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Zschoche Marco Emmert Steffen von Bubnoff Nikolas Ranjbar Mahdy Grisanti Salvatore Heindl Ludwig M. Fend Falko Adamietz Irenäus A. Kakkassery Vinodh 《Der Onkologe》2020,26(11):1056-1064
Die Onkologie - Das okuläre Lymphom wird anhand seiner anatomischen Lokalisation in die intraokulären und periokulären Lymphome eingeteilt. Intraokulär kann die Uvea mit ihren... 相似文献