Results 1 to 10 of about 73,318 (285)

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
doaj   +1 more source

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, Michelle Springer, Amanda Eppolito, Lisen Axell, Lisa Mohler   +4 more
doaj   +1 more source

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly

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, Yu-Xing Liu, Fang-Mei Luo, Yi Dong, Ya-Li Li, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan   +7 more
doaj   +1 more source

Rapid establishment of Oct4: EGFP transgenic zebrafish homozygote through gynogenesis for monitoring the pluripotency during induction of pluripotent stem cells

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 ...
Wenting Xu, Wen Fu, Mindi Long, Xiudan Yuan, Kaiyue Zhao, Xiaoli Hu, Jinhui Liu, Wenbin Liu, Liangyue Peng, Yamei Xiao   +9 more
doaj   +1 more source

Creutzfeldt–Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature

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, Jiatang Zhang, Yuying Cen, Xiaojiao Xu, Ruishu Tan, Jiahua Zhao, Shengyuan Yu   +6 more
doaj   +1 more source

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, Aziz Alami Chentoufi, F. Aytül Uyar, Hiba A. Chentoufi, Khalid Alzahrani, Maria Paz, Ahmed Bahnassy, Ghaleb Elyamany, Assem Elghazaly, Assem Elghazaly   +9 more
doaj   +1 more source

Association of TSHR gene single nucleotide intronic polymorphism with the risk of hypothyroid and hyperthyroid disorders in Yazd province

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, Seyed Mohsen Miresmaeili, Amaneh Javid   +2 more
doaj   +1 more source

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., Young, Anne B., Tanzi, Rudolph E., Travers, H., Starostarubinstein, S., Penney, John B., Snodgrass, S. Robert, Shoulson, Ira, Gomez, Fidela, Arroyo, Mar, Penchaszadeh, Graciela K., Moreno, H., Gibbons, K., Faryniarz, A. G., Hobbs, W., Anderson, M. A., Bonilla, Ernesto, Conneally, P. Michael, Gusella, James F.   +18 more
openaire   +3 more sources

Rapidly generating homozygous mutate zebrafish in F0 generation by technical integration of CRISPR/Cas9 and gynogenesis

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, Guangjing Zhang, Kaiyue Zhao, Xiudan Yuan, Wen Fu, Jinhui Liu, Wenbin Liu, Liangyue Peng, Yamei Xiao   +8 more
doaj   +1 more source

Genome-wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains. [PDF]

, 2020
Objective A genome-wide high-throughput single nucleotide polymorphism (SNP) typing method was tested with respect of the applicability to ancient and degraded DNA. The results were compared to mini-sequencing data achieved through single base extension (
Dörk, T., Hummel, S., Klintschar, M., Krause, I., Schmidt, N., Schücker, K.   +5 more
core   +2 more sources