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A common variant of ARRB2 promoter region Associated with the Prognosis of Heart Failure
Conclusions Our findings demonstrate that rs75428611 in promoter of ARRB2 is associated with the risk of HF mortality. It is a promising potentia l treatment target for HF. (Source: Human Heredity)
Source: Human Heredity - April 26, 2023 Category: Genetics & Stem Cells Source Type: research

Methods and software to analyze gene-environment interactions under a case-mother - control-mother design with partially missing child genotype
Conclusion: We recommend the robust version of the modified retrospective likelihood. (Source: Human Heredity)
Source: Human Heredity - April 26, 2023 Category: Genetics & Stem Cells Source Type: research

Polymorphisms of placental iodothyronine deiodinase genes in a rural area of Northern China with high prevalence of neural tube defects
Conclusions: The results of this study suggested that SNPs of DIOs genes in placenta among pregnant women has no statistically significant difference between the two groups, suggesting that other factors might be involved in metabolism of maternal thyroid hormone provided to fetuses, such as epigenetic modification of methylation and homocysteinylation and genomic imprinting in the placenta. Further those functional studies on placenta samples are necessary. (Source: Human Heredity)
Source: Human Heredity - March 21, 2023 Category: Genetics & Stem Cells Source Type: research

Identification of a hypoxia-related signature as candidate detector for schizophrenia based on genome-wide gene expression
Conclusion: These findings revealed that the hypoxia-related signature was acceptable as a detector for SCZ, providing further insight into effective diagnosis and treatment strategies for SCZ. (Source: Human Heredity)
Source: Human Heredity - March 13, 2023 Category: Genetics & Stem Cells Source Type: research

A Comprehensive Study of Disease-Causing Variants in PAH , QDPR , PTS , and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review
This study attempted to identify these genes ’ most prevalent disease-causing variants in Iranian HPA patients.Summary: This study was performed under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Before it started, the flow work and inclusion/exclusion criteria were published as a protocol in PROSPERO (CRD42021273705). We conducted a comprehensive search on December 10, 2022, on international online databases, including Web of Science, Scopus, EMBASE, Science Direct, PubMed/Medline, Google Scholar, SID, ISC, and Magiran search engine, to find pertinent publications. Some stu...
Source: Human Heredity - January 16, 2023 Category: Genetics & Stem Cells Source Type: research

A comprehensive study of mutations in PAH, QDPR, PTS, and PCD genes in Iranian patients with Hyperphenylalaninemia; A systematic review
This study attempted to identify these genes' most prevalent disease-causing variants in Iranian HPA patients. Summary: This study was performed under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Before it started, the flow work and inclusion/exclusion criteria were published as a protocol in PROSPERO (CRD42021273705). We conducted a comprehensive search on 10/12/2022 on international online databases, including Web of Science, Scopus, EMBASE, Science Direct, PubMed/Medline, Google Scholar, SID, ISC, and Magiran search engine, to find pertinent publications. Some studies were...
Source: Human Heredity - January 16, 2023 Category: Genetics & Stem Cells Source Type: research

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR
Conclusion: ARMS-PCR is an appropriate supplementary method for discovering most carriers missed by the G6PD/6PGD ratio assay.Hum Hered 2023;88:1 –7 (Source: Human Heredity)
Source: Human Heredity - October 31, 2022 Category: Genetics & Stem Cells Source Type: research

Reduction of missed diagnosis of G6PD deficiency in heterozygous females by G6PD/6PGD ratio assay combined with ARMS-PCR
Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that results in impaired enzyme activity. The G6PD/6PGD ratio assay was routinely used for G6PD deficiency screening in China, but there is an apparent defect of missed diagnosis in heterozygous females. The study aims to explore the means to improve its accuracy. Methods: A total of 4161 Chinese females of childbearing age were collected in this retrospective study. All samples were first subjected to G6PD/6PGD ratio assay and then screened by amplification refractory mutation system PCR (ARMS-PCR) for six hotspot mutants in Ch...
Source: Human Heredity - October 31, 2022 Category: Genetics & Stem Cells Source Type: research

The Prevalence of JAK2 Exon 12 Mutations in Vietnamese Patients with JAK2 V617F-Negative Polycythemia Vera: Frequent or Rare?
Conclusion: These results suggested that the causative mutations in this V617F-negative subgroup might be located in another genetic region, and mutations in exon 12 might not be as common among the V617F-negative polycythemia vera patients as thought.Hum Hered 2022;87:102 –106 (Source: Human Heredity)
Source: Human Heredity - August 3, 2022 Category: Genetics & Stem Cells Source Type: research

The Prevalence of JAK2 Exon 12 Mutations in Vietnamese Patients with JAK2 V617F-Negative Polycythemia Vera: Frequent or Rare?
Conclusion: These results suggested that the causative mutations in this V617F-negative subgroup might be located in another genetic region, and mutations in exon 12 might not be as common among the V617F-negative polycythemia vera patients as thought. (Source: Human Heredity)
Source: Human Heredity - August 3, 2022 Category: Genetics & Stem Cells Source Type: research

The prevalence of JAK2 exon12 mutations in Vietnamese patients with JAK2 V617F-negative polycythemia vera: frequent or rare?
Conclusion These results suggested that the causative mutations in this V617F-negative subgroup might locate in another genetic region, and mutations in exon 12 might not be as common among the V617F-negative Polycythemia Vera patients as thought. (Source: Human Heredity)
Source: Human Heredity - August 3, 2022 Category: Genetics & Stem Cells Source Type: research

Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia
Conclusion: Taken together, our data indicated that variants in mt-tRNA genes were the important contributors to PE; screening for mt-tRNA variants was recommended for early detection and prevention of PE.Hum Hered 2022;87:87 –95 (Source: Human Heredity)
Source: Human Heredity - July 18, 2022 Category: Genetics & Stem Cells Source Type: research

Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-eclampsia
Conclusions: Taken together, our data indicated that variants in mt-tRNA genes were the important contributors to PE; screening for mt-tRNA variants was recommended for early detection and prevention of PE. (Source: Human Heredity)
Source: Human Heredity - July 18, 2022 Category: Genetics & Stem Cells Source Type: research