Results 101 to 110 of about 78,400 (304)

HLA heterozygote advantage against HIV-1 is driven by quantitative and qualitative differences in HLA allele-specific peptide presentation

, 2020
Pathogen-mediated balancing selection is regarded as a key driver of host immunogenetic diversity. A hallmark for balancing selection in humans is the heterozygote advantage at genes of the human leukocyte antigen (HLA), resulting in improved HIV-1 ...
Carrington, M., Arora, Jatin, Pierini, F., McLaren, Paul J., Arora, J., Fellay, Jacques, McLaren, P.J., Arora, J. ; https://orcid.org/, Pierini, F. ; https://orcid.org/, Lenz, T.L., Lenz, T. ; https://orcid.org/, Carrington, Mary, McLaren, P., Fellay, J., Pierini, Federica, Lenz, Tobias L.   +15 more
core   +2 more sources

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations [PDF]

, 2010
Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported and often involve Ashkenazi founder mutations.
Steffensen, Ane Y, Jønson, Lars, Thomas V. O. Hansen, Ejlertsen, Bent, Nielsen, Finn C, Anne-Marie Gerdes, Gerdes, Anne-Marie, Bent Ejlertsen, Finn C. Nielsen, Hansen, Thomas V O, Lars Jønson, Ane Y. Steffensen   +11 more
core   +1 more source

First Report of Co‐Inheritance of Hemoglobin British Columbia (HBB:c.304G>A) and β‐Thalassemia IVS‐I‐6 (HBB:c.92+6T>C): Clinical Characterization of an Iranian Case

Journal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Hemoglobin British Columbia is a rare high‐oxygen‐affinity β‐globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques.
Kimia Fathalizade, Mahsa Kiani Bigdeli, Seyed Sajad Eghbali, Mohammadtaghi Ghiyasi, Roz Rastgoo, Mohammad Javad Mousavi   +5 more
wiley   +1 more source

Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin
Ha Ly Thi Thanh, Huong Le Thi Thanh, Long Hoang Luong, Thinh Huy Tran, Su-Ching Liu, Hai Nam Truong, Thanh Van Ta, The - Hung Bui, Van Khanh Tran   +8 more
doaj   +1 more source

THE VIABILITY OF HETEROZYGOTES FOR LETHALS [PDF]

Genetics, 1952
Stern, C, Carson, G, Kinst, M, Novitski, E, Uphoff, D   +4 more
openaire   +4 more sources

Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum

, 2007
International audienceBackground: Pseudoxanthoma elasticum (PXE) is related to mutations in the ABCC6 gene and characterized pathologically by dystrophic and mineralized elastic fibres.
Le Bert, Marc, Martin, L, Delaite, D, Chassaing, N, Maître, F, Estève, E   +5 more
core   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

Journal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn, Wibhasiri Srisuwan, Sitthichai Panyasai   +2 more
wiley   +1 more source

A translocation heterozygote in garden Canna

, 1966
A case of translocation heterozygosity has been discovered in gardenCanna. Morphologically the heterozygote is distinctive, being a pygmy type with small flowers which do not open. Cytologically it shows a ring or a chain of 4 plus 7 bivalents.
Mukherjee, Iva, Khoshoo, T. N.
core   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas, Paloma Ropero, Fernando Ataulfo González, Marta Morado, María Menor, Silvia de la Iglesia, Montserrat López‐Rubio, Eduardo José Salido, Mariola Abío, María Leonor Senent, Valle Recasens, José Manuel Vagace, Cristina Fonte, Jesús María Hernández‐Rivas, José María Raya, Pablo Ríos, Valeria Luciana Peri, Keneth A. Herrera, María Concepción Tenorio, Laura Lo Riso, Juan Tena, María Angustias Molina, Miriam Vara, Isabel Rodríguez, Pilar Ricard, Miguel Gómez, Oana Popa Dusacovschi, Julia María Vidán, Jorge Groiss, Óscar Ferre, Irene Orbe, Rosa María López, Nazaret Ugalde, Manuela Inés Hidalgo, Cristina Hinojosa, Ana Isabel Rodríguez, Esther Herrera, María Josefa Murúzabal, María del Carmen Hernández, Josefa Esperanza Marco, Celina Benavente, Grupo Español de Eritropatología   +41 more
wiley   +1 more source

Genotyping analysis of offspring and embryos derived from Med28 heterozygote intercrosses.

, 2015
aEmpty deciduas or not enough DNA to genotypeGenotyping analysis of offspring and embryos derived from Med28 heterozygote intercrosses.
Ryan M. Walsh (804303), Roberta L. Beauchamp (804305), Vilas Wagh (140680), Lin Li (28817), Marianne F. James (804304), James F. Gusella (102580), Vijaya Ramesh (804307), Yuh-Shin Chang (804306), Konrad Hochedlinger (200910)   +8 more
core   +1 more source