Results 1 to 10 of about 159,600 (311)
Heterozygote advantage for fecundity. [PDF]
PLoS ONE, 2006 Heterozygote advantage, or overdominance, remains a popular and persuasive explanation for the maintenance of genetic variation in natural populations in the face of selection.
Neil J Gemmell, Jon Slate
doaj +5 more sources
Direct Evidence on the Contribution of a Missense Mutation in GDF9 to Variation in Ovulation Rate of Finnsheep [PDF]
, 2014 peer-reviewedThe Finnish Landrace (Finnsheep) is a well known high-prolificacy sheep breed and has been used in many countries as a source of genetic material to increase fecundity of local breeds.
Hanrahan, James P, Mullen, Michael P.
core +24 more sources
The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East Asia
Frontiers in Medicine, 2022 ObjectiveALPK3 is associated with a recessive form of pediatric cardiomyopathy accompanied by musculoskeletal and craniofacial abnormalities. Heterozygous truncating variants in this gene (ALPK3tv) have recently been confirmed as a cause of autosomal ...
Jiaqi Dai +23 more
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Phenotypic and genetic analyses of four cases of coagulation factor XII deficiency
Hematology, 2022 Objectives To identify the clinical phenotypic and molecular pathogeneses of four cases of coagulation factor XII deficiency and to deepen the cognition of this disease.Methods Coagulation tests were performed through one stage of coagulation on a STAGO ...
Shanshan Li +7 more
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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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Animals, 2021 The bovine lymphocyte antigen (BoLA-DRB3) gene is an important region that codes for glycoproteins responsible for the initiation of an immune response.
Lwamkelekile Sitshilelo Mkize +1 more
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Lipids in Health and Disease, 2022 Background Hepatocyte nuclear factor 4α (HNF4α) and glucocorticoid receptor (GR), master regulators of liver metabolism, are down-regulated in fatty liver diseases. The present study aimed to elucidate the role of down-regulation of HNF4α and GR in fatty
Hong Lu +6 more
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Clinical Case Reports, 2023 Fanconi anemia, FA, is a rare, multi‐system disease caused by pathogenic variants in DNA repair genes. We report a novel RAD51 variant in an infant with FA whose tracheobronchomalacia has not been described in FA.
Shelby Geilmann +8 more
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Compoond heterozygotes in hyperphenylalaninaemia [PDF]
Human Genetics, 1984 Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxylase and/or a loading test with ...
K, Bartholomé, K, Olek, F, Trefz
openaire +2 more sources
Viscera Characteristics of MSTN-Edited Heterozygous Pigs
Frontiers in Genetics, 2022 Myostatin (MSTN) is a protein that negatively regulates growth of skeletal muscle, and inactivation of MSTN improves the mass of skeletal muscle. Our previous work found that MSTN+/− pigs have higher muscle depth and lower fat depth compared to wild type
Yangli Pei +10 more
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