Results 11 to 20 of about 43,307 (224)
Reproduction and Breeding, 2022 Oct4 was one of the important markers of cellular pluripotency. In this study, by Tol2 transgenic technology, the recombinant plasmids composed of Oct4 promoter DNA and enhanced green fluorescent protein (EGFP) gene are microinjected into zebrafish 1 ...
Liangyue Peng, Wenting Xu
exaly +3 more sources
Journal of Lipid Research, 2000 We measured the percent absorption, turnover, and distribution of campestanol (24-methyl-5α-cholestan-3β-ol) in a sitosterolemic homozygote, her obligate heterozygous mother, and three healthy human control subjects.
Gerald Salen, Guorong Xu, G S Tint
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Effect of Point Mutation in the Growth Differentiation Factor 9 Gene of Oocytes on the Sterility and Fertility of Awassi Sheep [PDF]
Archives of Razi Institute, 2020 Growth differentiation factor 9 (GDF9) plays a critical role in ovarian follicular development and ovulation rate. The present study aimed to investigate the correlation between the single-nucleotide polymorphism (SNP) of the GDF9 gene and reproductive ...
H. Al-Mutar, L. Younis
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Homozygous Germline APC p.I1307K Variants: A Case Series
Case Reports in Oncology, 2021 Approximately 10% of all colorectal cancer is estimated to be due to an inherited predisposition. Identification of a germline pathogenic variant can aid in treatment, screening, and surveillance and help stratify familial cancer risks based on gene ...
Alexa Rosenblum +4 more
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Frontiers in Pediatrics, 2021 Background: Transmembrane protein 231 (TMEM231) is a component of the B9 complex that participates in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in TMEM231 gene may contribute to the Joubert syndrome (JBTS) or
Tao Wang +7 more
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Prion, 2022 Genetic Creutzfeldt–Jakob disease (gCJD) is a prion disease caused by mutations in the prion protein gene (PRNP). It has an autosomal dominant inheritance, so gCJD with homozygous mutations is extremely rare, and the influence of homozygous mutations on ...
Yuheng Shan +6 more
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HLA Diversity in Saudi Population: High Frequency of Homozygous HLA Alleles and Haplotypes
Frontiers in Genetics, 2022 Human leukocyte antigens (HLA) diversity has a tremendous impact on shaping the transplantation practices, transfusion-associated graft versus host disease prevention strategies, and host–pathogen interactions. Here, we conducted a retrospective study of
Aziz Alami Chentoufi +9 more
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Homozygotes for Huntington's disease [PDF]
Nature, 1987 Careful comparison of symptomatic individuals with normal controls has revealed the primary biochemical abnormality in many human genetic diseases, particularly recessive disorders. This strategy has proved less successful for most human disorders which are not recessive, and where a single copy of the aberrant gene has clinically significant effects ...
Wexler, Nancy S. +18 more
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Scientific Reports, 2022 The present study was carried out, for the first time, to evaluate the association of rs2268458 polymorphism, biochemical and environmental factors on hypothyroid and hyperthyroid disorders in thyroid patients and healthy individuals in Yazd province ...
Fahime Sadat Naghibi +2 more
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Reproduction and Breeding, 2023 Gene editing technique has been widely applied for gene function characterization. However, such an approach is often time-consuming to obtain homozygous mutant.
Yunpeng Fan +8 more
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