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Journal articles on the topic 'Homozygosis'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Bruno Girolami, and Maria L. Randi. "Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery." Cardiovascular & Hematological Disorders-Drug Targets 19, no. 3 (2019): 233–38. http://dx.doi.org/10.2174/1871529x19666190308114842.

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Objective: To investigate the prevalence of thrombotic events among patients with proven or highly probable homozygosis for the Arg304Gln (Factor VII Padua) defect or compound heterozygosis containing the Arg304Gln mutation. Methods: Homozygotes and compound heterozygotes proven by molecular studies to have the Arg304Gln mutation were gathered from personal files and from two PubMed searches. In addition, patients with probable homozygosis on the basis of clotting tests (discrepancies among Factor VII activity levels according to the tissue thromboplastin used) were also gathered. Results: 30

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2

Balgir, R. S. "CONTRIBUTION OF MARITAL DISTANCE TO COMMUNITY INBREEDING, HOMOZYGOSIS, AND REPRODUCTIVE WASTAGE FOR RECESSIVELY INHERITED GENETIC DISORDERS IN MADHYA PRADESH, INDIA." Mediterranean Journal of Hematology and Infectious Diseases 5, no. 1 (2013): e2013063. http://dx.doi.org/10.4084/mjhid.2013.063.

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Background: Recessively inherited genetic disorders such as sickle cell anemia and β-thalassemia are commonly encountered in heterozygous and homozygous form in India. These hemolytic disorders cause a high degree of reproductive wastage in vulnerable communities. Inbreeding is usually the mating between two related individuals. Homozygosis is antagonistic process of heterosis.Purpose: This study was aimed at finding reproductive outcome in carrier couples of sickle cell disease, and β-thalassemia in terms of reproductive wastage in relation to varied marital distance between partners in Madhy

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3

Kuzmina, N. V., V. I. Dmitrieva, D. N. Koltsov, and M. E. Gontov. "Influence of homozygosis by marker alleles of blood groups on the productivity, reproductive qualities and longevity of cows." Agricultural Science Euro-North-East 20, no. 5 (2019): 488–97. http://dx.doi.org/10.30766/2072-9081.2019.20.5.488-497.

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Currently, in populations of different cattle breeds there is elimination of a number of alleles of blood groups and an in-crease in the homozygosity coefficient that leads to rise in the amount of homozygous animals. In this regard, the aim of the research was to study the effect of homozygosity by EAV-locus of blood groups on the productive and reproductive characteristics of cows. The research was carried out on the farms of the Smolensk region for breeding of Sychevskaya cattle breed: the “Rybkovskoye” breeding farm and pedigree breeding unit Agricultural Production Cooperative (APC) named

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4

ESQUISSATO, GIOVANA N. M., JULIANE R. DE SANT'ANNA, CLAUDINÉIA C. S. FRANCO, LÚCIA J. ROSADA, PAULA A. S. R. DOS SANTOS, and MARIALBA A. A. DE CASTRO-PRADO. "Gene homozygosis and mitotic recombination induced by camptothecin and irinotecan in Aspergillus nidulans diploid cells." Anais da Academia Brasileira de Ciências 86, no. 4 (2014): 1703–10. http://dx.doi.org/10.1590/0001-3765201420130106.

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Mitotic recombination is a process involved in carcinogenesis which can lead to genetic loss through the loss of heterozygosity. The recombinogenic potentials of two anticancer drugs topoisomerase I inhibitors, camptothecin (CPT) and irinotecan (CPT-11), were evaluated in the present study. The homozygotization assay, which assess the induction of mitotic recombination and gene homozygosis, as well as the heterozygous A757//UT448 diploid strain of Aspergillus nidulans were employed. The three non-cytotoxic concentrations of CPT (3.5 ng mL−1, 10.5 ng mL−1 and 17.4 ng mL−1) were found to induce

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5

Cardoso, Antonio Ismael Inácio. "Depression by inbreeding after four sucessive self-pollination squash generations." Scientia Agricola 61, no. 2 (2004): 224–27. http://dx.doi.org/10.1590/s0103-90162004000200016.

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The strategy for breeding F1 hybrid squash is to develop parental lines through self-pollination. However, it increases plant mean homozygosis, which is not the natural genetic state of a cross-pollinated species, and can cause "inbreeding depression". The objective of this work was to evaluate this depression with sucessive generations of self-pollination (without selection) in Cucurbita moschata, cv. Piramoita. Populations were obtained from lines with one to four generations of self-pollination (obtained by the SSD method), from the original cv. Piramoita (population S0). Randomized blocks

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6

Mackay, Trudy F. C. "Transposable element-induced fitness mutations in Drosophila melanogaster." Genetical Research 48, no. 2 (1986): 77–87. http://dx.doi.org/10.1017/s0016672300024794.

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SummaryP element mutagenesis was used to contaminate M strain second chromosomes with P elements. The contaminated lines were compared to uncontaminated control lines for homozygous and heterozygous fitness and its components. Mean homozygous fitness, viability and fertility of chromosome lines contaminated with P elements is decreased relative to the uncontaminated control lines by, respectively, 55, 28 and 40%. Variance among contaminated homozygous lines of total fitness increases by a factor of 1·5, variance of viability by a factor of 5·9, and variance of fertility by a factor of 1·9, com

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7

Romero-Cortadellas, Lídia, Gonzalo Hernández, Xènia Ferrer-Cortès, et al. "New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation." International Journal of Molecular Sciences 23, no. 8 (2022): 4406. http://dx.doi.org/10.3390/ijms23084406.

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Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the SLC11A2 gene. DMT1 has a vital role in iron homeostasis by mediating iron uptake in the intestine and kidneys and by recovering iron from recycling endosomes after transferrin endocytosis. Mutations in SLC11A2 cause an ultra-rare hypochromic microcytic anemia with iron overload (AHMIO1), which has been described in eight patients so far. Here, we report two novel cases of this disease. The first proband is homozygous for a new SLC11A2 splicing variant (c.762 + 35A > G), becoming the first ever patient re

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8

Enloe, Brian, Aviva Diamond, and Aaron P. Mitchell. "A Single-Transformation Gene Function Test in DiploidCandida albicans." Journal of Bacteriology 182, no. 20 (2000): 5730–36. http://dx.doi.org/10.1128/jb.182.20.5730-5736.2000.

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ABSTRACT The fungal pathogen Candida albicans is naturally diploid, and current gene disruption strategies require two successive transformations. We describe here a genetic construct (UAU1) for which two copies may be selected. Insertion ofUAU1 into one genomic site, after a single transformation, allows selection for segregants with two copies of the insertion. Major classes of segregants are those carrying homozygous insertion mutations and allelic triplications, which have two insertion alleles and a wild-type allele. Thus nonessential and essential genes may be distinguished rapidly throu

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9

Luciani, Matteo, Valeria Pansini, Valentina Coletti, et al. "Metylenetetrahydrofolate Reductase Polymorphism and Venous Thrombosis in Children." Blood 112, no. 11 (2008): 5357. http://dx.doi.org/10.1182/blood.v112.11.5357.5357.

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Abstract The venous thromboembolism is a serious and complex pathological condition especially for its potential complications. It is related to both congenital and acquired factors. Among the congenital factors, different mutations have been identified leading to a reduced activity of enzymes (even higher than 50%) involved in the homocysteine-methyonine methabolic pathway, such as the methylenetetrahydrofolate reductase enzyme (MTHFR). The homozygotic TT genotype is found in approximately 10–12% of the population and is associated with a 25% higher homocisteine level in these patients than t

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10

Brancati, C., M. Caracciolo, M. Bria, M. G. Bisconte, and A. Qualtieri. "HB G-San Jose Homozygosis in a Calabrian Family." Hemoglobin 13, no. 5 (1989): 497–503. http://dx.doi.org/10.3109/03630268908998089.

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11

Fossati, Carolina, Giuseppe Patti, Vincenzo Pasceri, et al. "Role of Congenital and Acquired Thrombophilic Factors in the Failure of Thrombolysis in Patients with Acute Myocardial Infarction." Blood 104, no. 11 (2004): 2591. http://dx.doi.org/10.1182/blood.v104.11.2591.2591.

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Abstract In patients with acute myocardial infarction, a persistently occluded infarct related coronary artery, despite a correct thrombolysis, is associated with an unfavourable prognosis. Therefore, identification of variables predictive of ineffective thrombolysis is crucial to identify patients at higher risk of thombolysis failure. To investigate whether or not acquired or congenital thrombophilic factors had a role in the ineffective thrombolysis we designed this study in which patients treated with intravenous thrombolysis for a ST segment elevation myocardial infarction were blind test

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12

Denic, Srdjan, and Abdul-Kader Souid. "Hemoglobin D-Punjab Homozygotes and Double Heterozygotes in Premarital Screening: Case Presentations and Minireview." European Journal of Medical and Health Sciences 3, no. 1 (2021): 90–94. http://dx.doi.org/10.24018/ejmed.2021.3.1.681.

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Hemoglobin D-Punjab is the most common variant of hemoglobin D. In premarital screening, molecular testing is often unavailable, and diagnosis (and marriage guidance) often relies on the hemoglobin analysis, family studies and epidemiological facts. The use of latter methods sometimes results in hemoglobin D-Punjab/β-thalassemia double heterozygote being mistaken for its homozygote, which could be costly. We present the clinical and laboratory characteristics of hemoglobin D-Punjab phenotypes/genotypes in 15 individuals and review similar reports in the literature. We find that the quantity of

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13

Oterino, A., N. Valle, Y. Bravo, et al. "MTHFR T677 Homozygosis Influences the Presence of Aura in Migraineurs." Cephalalgia 24, no. 6 (2004): 491–94. http://dx.doi.org/10.1111/j.1468-2982.2004.00692.x.

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It has been suggested that folate metabolism could be involved in migraine pathogenesis. We analysed the 5′, 10′ -methylenetetrahydrofolate reductase (MTHFR) genotypic distribution in a large migraine sample. We genotyped 230 migraine patients (152 migraine without aura (MO) and 78 migraine with aura (MA)) and 204 nonheadache controls. The incidence of TT homozygosis for migraine in general (12%), MO (9%) and MA (18%) did not significantly differ from that found in healthy controls (13%). Differences were significant when the frequency of TT homozygosis between MA and MO ( P = 0.03, OR = 2.34,

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14

De Marco, Renato, Tathyane C. Faria, Karina L. Mine, et al. "HLA‐A homozygosis is associated with susceptibility to COVID ‐19." HLA 98, no. 2 (2021): 122–31. http://dx.doi.org/10.1111/tan.14349.

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15

Baptista, F., and M. A. A. Castro-Prado. "Benlate-induced Homozygosis from Heterozygous Diploid Strains in Aspergillus nidulans." CYTOLOGIA 62, no. 4 (1997): 289–96. http://dx.doi.org/10.1508/cytologia.62.4_289.

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16

Fenerich, Bruna Alves, Jaqueline Cristina Fernandes, Cleide Lúcia Araújo Silva, et al. "Irs1S57X Heterozygous Mutant Mice Display Normal Hematopoiesis and Phenotypic Features, While Homozygous Knockout Exhibit High Fetal or Postnatal Lethality." Blood 136, Supplement 1 (2020): 33–34. http://dx.doi.org/10.1182/blood-2020-139422.

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Introduction: Pharmacological inhibition of insulin receptor substrate 1 (IRS1) protein has been demonstrated to promote antineoplastic effects in hematological disorders, including myeloproliferative neoplasms, chronic myeloid leukemia and acute lymphoblastic leukemia. However, the role of IRS1 in normal hematopoiesis has not yet been elucidated. In this scenario, using a murine Irs1 knockout model represents an interesting tool to evaluate the role of this gene in normal hematopoiesis. B6.129S2-Irs1smla mouse carries a spontaneous nonsense mutation in serine 57 (Irs1S57X), which in homozygos

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17

Santos, Leandro Ribeiro dos, Carlos Alberto da Silva Ledo, Fábio Mathias Corrêa, et al. "OPTIMAL SAMPLE SIZE IN CITRUS PROGENIES CONSIDERING THE DEGREE OF HOMOZYGOSITY OF THEIR PARENTS AND THE DROUGHT TOLERANCE." Revista Contemporânea 4, no. 4 (2024): e3766. http://dx.doi.org/10.56083/rcv4n4-084.

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Drought tolerance is a fundamental characteristic for the development of citrus rootstock varieties. The leaf curling (reaction to water deficit) and shoot emission (reaction to rehydration) degrees are phenotypic traits that can be used to select superior genotypes. This work aimed to determine the optimal sample size of citrus progenies to concerning these traits. The study was carried out in Cruz das Almas municipality, Bahia State. The progenies studied resulted from the crosses of ‘Sunki da Flórida’ mandarin (TSKFL) with the male parents ‘Swingle’ citrumelo (CTSW), ‘Benecke’ trifoliate or

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18

Granadino, B., A. San Juán, P. Santamaria, and L. Sánchez. "Evidence of a dual function in fl(2)d, a gene needed for Sex-lethal expression in Drosophila melanogaster." Genetics 130, no. 3 (1992): 597–612. http://dx.doi.org/10.1093/genetics/130.3.597.

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Abstract In Drosophila melanogaster, the female sexual development of the soma and the germline requires the activity of the gene Sxl. The somatic cells need the function of the gene fl(2)d to follow the female developmental pathway, due to its involvement in the female-specific splicing of Sxl RNA. Here we report the analysis of both fl(2)d1 and fl(2)d2 mutations: (1) fl(2)d1 is a temperature-sensitive mutation lethal in females and semilethal in males; (2) fl(2)d2 is lethal in both sexes; (3) the fl(2)d1/fl(2)d2 constitution is temperature-sensitive and lethal in females, while semilethal in

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19

Varoni, Elena M., Giovanni Lodi, Massimo Del Fabbro, et al. "Sex-Related Differences in Allelic Frequency of the Human Beta T Cell Receptor SNP rs1800907: A Retrospective Analysis from Milan Metropolitan Area." Vaccines 9, no. 4 (2021): 333. http://dx.doi.org/10.3390/vaccines9040333.

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This paper aims at retrospectively re-analyzing the different distribution, between males and females, in the allelic frequency of the human β T cell receptor (TCR β) single nucleotide polymorphism (SNPs) rs1800907 in Caucasian patients in the Milan metropolitan area. The allelic frequency significantly differed between sexes. Females showed higher frequency of C/C genotype than males, but lower T/C genotype (p < 0.0001). Heterozygous (T/C) versus homozygous (T/T + C/C) genotypes resulted in a different distribution of frequencies in males than in females, the latter possessing higher homoz

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20

Jia, Lili, Chen Dan-lin, Liu Chao-ji, et al. "Application of homozygosis dominant SSR marker in longan hybrid authenticity identification." Acta Horticulturae, no. 1211 (September 2018): 207–12. http://dx.doi.org/10.17660/actahortic.2018.1211.30.

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21

Zanella, Ricardo, Luísa Lago, Arthur da Silva, et al. "Genetic Characterization of Indubrasil Cattle Breed Population." Veterinary Sciences 5, no. 4 (2018): 98. http://dx.doi.org/10.3390/vetsci5040098.

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The Indubrasil breed was developed in the Brazilian region called Triângulo Mineiro as a result of a cross between zebu cattle. Initially, it was used as a terminal cross and currently it represents approximately 4.45% of all the Brazilian zebu cattle. Studies were conducted to estimate genetic parameters in the Indubrasil using pedigree information, however, until now, no study has been developed using large-scale genomic markers in this breed. Pedigree information are widely used to investigate population parameters; however, they can neglect some estimates when compared to the use of genomi

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22

Sánchez, Alicia, Juana Cava, Virginia Hernández, et al. "Effect of Tm-2a, Sw-5 and Ty-1 Gene Introduction on the Agronomic Performance and Metabolic Profile of Traditional Muchamiel-Type Tomato Varieties." Horticulturae 11, no. 7 (2025): 838. https://doi.org/10.3390/horticulturae11070838.

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The introduction of virus resistance genes into traditional tomato varieties offers a strategy to preserve genetic diversity and enhance commercial viability. However, the homozygous presence of these genes has been associated with negative effects on yield and fruit quality. This two-year study evaluated the impact of introducing the Tm-2a, Sw-5 and Ty-1 genes, which are associated with resistance to ToMV, TSWV and TYLCV, respectively, on the agronomic yield, fruit characteristics and metabolic profile of Muchamiel-type cultivars. Four hybrids were obtained by crossing two breeding lines carr

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23

Jores, Rita-Désirée, Fulvia Frau, Francesco Cucca, et al. "HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease." Scandinavian Journal of Gastroenterology 42, no. 1 (2007): 48–53. http://dx.doi.org/10.1080/00365520600789859.

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24

BONNIER, GERT, and MAJA NORDENSKIÖLD. "STUDIES IN DROSOPHILA MELANO-GASTER WITH ATTACHED X:S: II. FREQUENCY OF HOMOZYGOSIS." Hereditas 25, no. 4 (2010): 477–90. http://dx.doi.org/10.1111/j.1601-5223.1939.tb02708.x.

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25

Fairhead, Cécile, and Bernard Dujon. "Consequences of unique double-stranded breaks in yeast chromosomes: death or homozygosis." Molecular and General Genetics MGG 240, no. 2 (1993): 170–80. http://dx.doi.org/10.1007/bf00277054.

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26

Dorneles, Jessica, Amanda de Menezes Mayer, and José Artur Bogo Chies. "Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years." Hematology Reports 17, no. 1 (2025): 2. https://doi.org/10.3390/hematolrep17010002.

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A quarter of a century ago, sickle cell disease (SCD) was mainly viewed as a typical genetic disease inherited as a classical Mendelian trait. Therefore, the main focus concerning SCD was on diagnosis, meaning, genotyping, and identification of homozygous and heterozygous individuals carrying the relevant HbS mutant allele. Nowadays, it is well established that sickle cell disease is indeed the result of homozygosis for the HbS variant, although this single feature is not capable of explaining the highly diverse clinical presentation of SCD. In fact, an important feature of SCD is the chronic

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27

Lozano, María L., Elkin A. Niño, Juan Jose Cerezo, et al. "CXCR4 allelic Variations Influence Hematological Recovery Following Autologous Stem Cell Transplantation,." Blood 118, no. 21 (2011): 4098. http://dx.doi.org/10.1182/blood.v118.21.4098.4098.

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Abstract Abstract 4098 Introduction. The ability to achieve rapid and sustained myeloid and platelet engraftment is a major determinant for outcome in patients undergoing autologous stem cell transplantation (ASCT). The CXCR4 chemokine receptor, present in hematopoietic progenitors (HPs), and its ligand, stromal cell-derived factor 1 (SDF-1) play a pivotal role in retaining HPs within the bone marrow microenvironment in the adult. Recently, the intronic single nucleotide polymorphism (SNP) rs2680880 in CXCR4 located close to a region implicated in alternative splicing that generates 2 variants

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Ou, Tsong-Yih, Fang-Mo Chang, Wei-Ning Cheng, et al. "Fluconazole induces rapid high-frequency MTL homozygosis with microbiological polymorphism in Candida albicans." Journal of Microbiology, Immunology and Infection 50, no. 6 (2017): 899–904. http://dx.doi.org/10.1016/j.jmii.2015.12.009.

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Pujol, Claude, Karla J. Daniels, Shawn R. Lockhart, et al. "The Closely Related Species Candida albicans and Candida dubliniensis Can Mate." Eukaryotic Cell 3, no. 4 (2004): 1015–27. http://dx.doi.org/10.1128/ec.3.4.1015-1027.2004.

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ABSTRACT Because Candida dubliniensis is closely related to Candida albicans, we tested whether it underwent white-opaque switching and mating and whether white-opaque switching depended on MTL homozygosity and mating depended on switching, as they do in C. albicans. We also tested whether C. dubliniensis could mate with C. albicans. Sequencing revealed that the MTLα locus of C. dubliniensis was highly similar to that of C. albicans. Hybridization with the MTL a 1, MTL a 2, MTLα1, and MTLα2 open reading frames of C. albicans further revealed that, as in C. albicans, natural strains of C. dubli

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Poggiali, Erika, Fabio Andreozzi, Isabella Nava, et al. "Analysis Of TMPRSS6 Polymorphisms In Patients With Iron Deficiency Anemia Partially Responsive To Oral Iron Treatment." Blood 122, no. 21 (2013): 3438. http://dx.doi.org/10.1182/blood.v122.21.3438.3438.

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Abstract Introduction Iron Refractory Iron Deficiency Anemia (IRIDA) is an autosomal recessive form of iron deficiency anemia (IDA) caused by mutations in TMPRSS6 gene, and characterized by unresponsiveness to oral iron supplementation and low effectiveness of parenteral iron administration (Finberg 2009). So far 50 cases from 32 families have been reported and 40 mutations have been identified (De Falco 2013). Although mutations are extremely rare, recent insights have revealed that highly frequent polymorphisms of TMPRSS6 gene may influence iron absorption, being associated with increased ri

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Pujol, Claude, Shawn A. Messer, Michael Pfaller, and David R. Soll. "Drug Resistance Is Not Directly Affected by Mating Type Locus Zygosity in Candida albicans." Antimicrobial Agents and Chemotherapy 47, no. 4 (2003): 1207–12. http://dx.doi.org/10.1128/aac.47.4.1207-1212.2003.

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ABSTRACT Recently, evidence was presented that in a collection of fluconazole-resistant strains of Candida albicans there was a much higher proportion of homozygotes for the mating type locus (MTL) than in a collection of fluconazole-sensitive isolates, suggesting the possibility that when cells become MTL homozygous they acquire intrinsic drug resistance. To investigate this possibility, an opposite strategy was employed. First, drug susceptibility was measured in a collection of isolates selected for MTL homozygosity. The majority of these isolates had not been exposed to antifungal drugs. S

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Rodríguez, Iria Beltrán, Adrián Arés Luque, and Laura García-Talavera Casado. "Homozygosis variant p.asn115* in the ANO10 gene: a new discovered cause of spinocerebellar Ataxia." International Physical Medicine & Rehabilitation Journal 7, no. 3 (2022): 133–34. http://dx.doi.org/10.15406/ipmrj.2022.07.00319.

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The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present with ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. The homozygous variant in the ANO10 gene NP_060545.3:p.Asn114* is a 2-nucleotide deletion that would cause the introduction of a premature stop codon at the same position, that has not been previously described in the scientific literature related to disease and it perfectly explains our patient’s condition.

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de Castro, Ana Pérez, María José Díez, and Fernando Nuez. "Inheritance of Tomato yellow leaf curl virus Resistance Derived from Solanum pimpinellifolium UPV16991." Plant Disease 91, no. 7 (2007): 879–85. http://dx.doi.org/10.1094/pdis-91-7-0879.

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Resistance to tomato yellow leaf curl disease (TYLCD) in accession UPV16991 Solanum pimpinellifolium has been previously reported by our group. A breeding program was developed from an initial S. lycopersicum × S. pimpinellifolium UPV16991 cross. This first cross was followed by several selfing generations. Selection for resistance to Tomato yellow leaf curl virus (TYLCV) and Tomato yellow leaf curl Sardinia virus (TYLCSV) was carried out for plants of each generation. One partially resistant F6 plant (L102) was chosen to form the family to study the genetic control of resistance to TYLCV. Cro

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López-Cortegano, Eugenio, Eulalia Moreno, and Aurora García-Dorado. "Genetic purging in captive endangered ungulates with extremely low effective population sizes." Heredity 127, no. 5 (2021): 433–42. http://dx.doi.org/10.1038/s41437-021-00473-2.

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AbstractInbreeding threatens the survival of small populations by producing inbreeding depression, but also exposes recessive deleterious effects in homozygosis allowing for genetic purging. Using inbreeding-purging theory, we analyze early survival in four pedigreed captive breeding programs of endangered ungulates where population growth was prioritized so that most adult females were allowed to contribute offspring according to their fitness. We find evidence that purging can substantially reduce inbreeding depression in Gazella cuvieri (with effective population size Ne = 14) and Nanger da

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Bea-Mascato, Brais, Carlos Solarat, Irene Perea-Romero, et al. "Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients." Genes 12, no. 2 (2021): 282. http://dx.doi.org/10.3390/genes12020282.

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Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated cardiomyopathy (DCM), neurodegenerative disorders and multiorgan fibrosis. We refined the clinical and genetic diagnosis data of 12 patients from 11 families, all of them from Spain. We also studied the allelic frequency of the different variant

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Petta, S., C. Bellia, A. Mazzola, et al. "Methylenetetrahydrofolate reductase homozygosis and low-density lipoproteins in patients with genotype 1 chronic hepatitis C." Journal of Viral Hepatitis 19, no. 7 (2011): 465–72. http://dx.doi.org/10.1111/j.1365-2893.2011.01557.x.

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37

Soll, David R. "Mating-type locus homozygosis, phenotypic switching and mating: a unique sequence of dependencies inCandida albicans." BioEssays 26, no. 1 (2003): 10–20. http://dx.doi.org/10.1002/bies.10379.

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Geirsdottir, Inga S., Sigrún Helga Lund, Saedis Saevarsdottir, et al. "Phenotypes Associated with HFE p.C282Y Homozygosity, the Main Hereditary Hemochromatosis Genotype, in Four Large Genetic Cohorts." Blood 142, Supplement 1 (2023): 1088. http://dx.doi.org/10.1182/blood-2023-179875.

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Introduction Hereditary hemochromatosis (HH) is the most common known recessive hereditary disease in people of northern European descent. HH is most commonly caused by the HFE-C282Y homozygosity. Disease penetrance is highly variable (1-20%). We have examined the association between C282Y homozygosity and multiple phenotypes, both case-control and quantitative, across 4 international cohorts (deCODE genetics, UK Biobank, Denmark (Copenhagen Hospital Biobank / Danish Blood Donor Study) and Intermountain Healthcare) in an effort to shed a new light on the pathophysiology of this common heredita

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Boscutti, Andrea, Alessandro Pigoni, Giuseppe Delvecchio, et al. "The Influence of 5-HTTLPR, BDNF Rs6265 and COMT Rs4680 Polymorphisms on Impulsivity in Bipolar Disorder: The Role of Gender." Genes 13, no. 3 (2022): 482. http://dx.doi.org/10.3390/genes13030482.

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Impulsivity has been proposed as an endophenotype for bipolar disorder (BD); moreover, impulsivity levels have been shown to carry prognostic significance and to be quality-of-life predictors. To date, reports about the genetic determinants of impulsivity in mood disorders are limited, with no studies on BD individuals. Individuals with BD and healthy controls (HC) were recruited in the context of an observational, multisite study (GECOBIP). Subjects were genotyped for three candidate single-nucleotide polymorphisms (SNPs) (5-HTTLPR, COMT rs4680, BDNF rs6265); impulsivity was measured through

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Plakhtukova, V., M. I. Selionova, M. Yu Gladkikh, and O. V. Kuznetsova. "Association of CAPN1 and GH genes with productivity traits in Kazakh Whiteheaded cattle." E3S Web of Conferences 224 (2020): 04027. http://dx.doi.org/10.1051/e3sconf/202022404027.

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The Kazakh Whiteheaded cattle was developed by crossing local breeds with the Hereford breed in Kazakhstan in the 30s of the last century. This breed is adapted to arid conditions of extreme continental climate. The goal of the investi-gations was the assessment of the genetic structure of the Kazakh Whiteheaded breed based on the genes of calpain (CAPN1) and somatotropic hormone (GH) and analysis of the association of genotypes for these genes with productivity traits. The main argument for this aim is research works illustrated that both genes could affect on meat productivity traits in othe

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Cautero, N., F. Di Benedetto, N. De Ruvo, et al. "Novel Genetic Mutation in Apolipoprotein E2 Homozygosis and Its Implication in Organ Donation: A Case Report." Transplantation Proceedings 42, no. 4 (2010): 1349–51. http://dx.doi.org/10.1016/j.transproceed.2010.03.104.

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Iarossi, Giancarlo, Valerio Marino, Paolo Enrico Maltese, et al. "Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families." International Journal of Molecular Sciences 22, no. 1 (2020): 381. http://dx.doi.org/10.3390/ijms22010381.

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The small Ras-related GTPase Rab-28 is highly expressed in photoreceptor cells, where it possibly participates in membrane trafficking. To date, six alterations in the RAB28 gene have been associated with autosomal recessive cone-rod dystrophies. Confirmed variants include splicing variants, missense and nonsense mutations. Here, we present a thorough phenotypical and genotypical characterization of five individuals belonging to four Italian families, constituting the largest cohort of RAB28 patients reported in literature to date. All probands displayed similar clinical phenotype consisting o

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Nardy, Ariane, Camila Tussato Soares Camargo, Yasmim Faustina Castro de Oliveira, et al. "Assessment of the Interferon-Lambda-3 Polymorphism in the Antibody Response to COVID-19 in Older Adults Seropositive for CMV." Vaccines 11, no. 2 (2023): 480. http://dx.doi.org/10.3390/vaccines11020480.

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Background: Here, we investigated the impact of IFN-lambda-3 polymorphism on specific IgG responses for COVID-19 in older adults seropositive for CMV. Methods: Blood samples of 25 older adults of both sexes were obtained at three different times: during a micro-outbreak (MO) of SARS-CoV-2 in 2020; eight months after (CURE); and 30 days after the administration of the second dose of ChadOx-1 vaccine (VAC). The specific IgG for both SARS-CoV-2 and CMV antigens, neutralizing antibodies against SARS-CoV-2, and also the polymorphism profile for IFN-lambda-3 (rs12979860 C > T) were assessed. Resu

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Wiethölter, Paula, Maria Irene Baggio de Moraes Fernandes, Sandra Patussi Brammer, Euclydes Minella, and Edson Jair Iorkzeski. "Genotypic differences in proembryoid development and green plantlets regeneration through androgenesis in barley varieties." Ciência Rural 38, no. 1 (2008): 240–42. http://dx.doi.org/10.1590/s0103-84782008000100039.

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The development of in vitro haploid plants followed by spontaneous or induced genome duplication allows to achieve, in one generation, the recovery of total homozygosis. The efficiency of the haplodiploidization process through in vitro anther culture of barley is variable among genotypes. This study was aimed at determining the androgenetic response of nine barley genotypes from the breeding program of Embrapa Trigo, analysing proembryoid development and green plantlets regeneration in anthers cultivated in vitro. Cultivar 'BR2' presented the highest average of proembryoids (104/anther) and '

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Zittan, E., M. Preis, I. Asmir, et al. "High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia." American Journal of Physiology-Heart and Circulatory Physiology 293, no. 1 (2007): H860—H865. http://dx.doi.org/10.1152/ajpheart.01189.2006.

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The aim of this study was to examine the association of homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and vitamin B12 deficiency in 360 asymptomatic individuals and to investigate forearm endothelial function in C677T homozygotes. MTHFR C677T mutation and levels of vitamin B12, folic acid, and homocysteine were measured in study participants. Frequency of homozygosity for the C677T mutation was 67/360 (18.6%). Homocysteine levels were elevated in homozygous compared with heterozygous subjects or those without the mutation (20.6 ± 18.8 vs. 9.4 ± 3.2 μmol/l; P &

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Wu, Wei, Claude Pujol, Shawn R. Lockhart, and David R. Soll. "Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis inCandida albicans." Genetics 169, no. 3 (2005): 1311–27. http://dx.doi.org/10.1534/genetics.104.033167.

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Papazoglu, Gabriela Magali, Marisa Cubilla, Marcela Pereyra, et al. "Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis." Glycoconjugate Journal 38, no. 2 (2021): 191–200. http://dx.doi.org/10.1007/s10719-021-09976-w.

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LANDAU, D., N. ROSENBERG, A. ZIVELIN, O. STARETZ-CHACHAM, and J. KAPELUSHNIK. "Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation." Haemophilia 15, no. 3 (2009): 774–78. http://dx.doi.org/10.1111/j.1365-2516.2009.02004.x.

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Marotto, Daniela, Marta Moschetti, Alessia Lo Curto, et al. "Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion (Rheumatology Suspecting)." International Journal of Molecular Sciences 24, no. 21 (2023): 15924. http://dx.doi.org/10.3390/ijms242115924.

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Pompe disease (PD), also defined as acid maltase deficiency, is a rare autosomal recessive disease that causes glycogen accumulation due to a deficiency of the lysosomal enzyme acid α-glucosidase. An excessive amount of undisposed glycogen causes progressive muscle weakness throughout the body. It particularly affects skeletal muscles and the nervous system, especially in the late-onset phase. Here, we present a clinical case of late-onset PD (LOPD) with normal CK (creatinine kinase) values treated after a misdiagnosis of demyelinating motor polyneuropathy and chronic inflammatory neuropathy.

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Guerra-Shinohara, Elvira Maria, Paulo Caleb Santos, Rodolfo Cancado, et al. "Global Sequencing for the Molecular Background of Hereditary Hemochomatosis In Brazilian Patients." Blood 116, no. 21 (2010): 5146. http://dx.doi.org/10.1182/blood.v116.21.5146.5146.

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Abstract Abstract 5146 INTRODUTION: Most hereditary hemochromatosis (HH) patients are homozygous for the p.C282Y mutation in the HFE gene. But rare HFE variants have been shown to be associated with HH. In addition, four main types of non-HFE HH are caused by mutations in the hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1) genes. The main aim of this study was to screen for HFE, HJV, HAMP, TFR2 and SLC40A1 mutations and to investigate their relationship with HH. MATERIAL E METHODS: Fifty-one Brazilian patients with primary iron overload (transferrin

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