Výsledky vyhledávání - "Maja P. Mattle-Greminger"

Akademický článek

Resolving Genotype–Phenotype Discrepancies of the Kidd Blood Group System Using Long-Read Nanopore Sequencing

Autor: Morgan Gueuning, Gian Andri Thun, Nadine Trost, Linda Schneider, Sonja Sigurdardottir, Charlotte Engström, Naemi Larbes, Yvonne Merki, Beat M. Frey, Christoph Gassner, Stefan Meyer, Maja P. Mattle-Greminger

Publikováno v: Biomedicines, Vol 12, Iss 1, p 225 (2024)

Due to substantial improvements in read accuracy, third-generation long-read sequencing holds great potential in blood group diagnostics, particularly in cases where traditional genotyping or sequencing techniques, primarily targeting exons, fail to

Externí odkaz: https://doaj.org/article/8cd38d3c754c48a6a585818cdf159813

Zobrazit plný text záznamu

Akademický článek

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

Autor: Adrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Maja P. Mattle-Greminger, Stefan Meyer, Alessandra Baumer, Elisabeth I. Minder, Xiaoye Schneider-Yin, Jasmin Barman-Aksözen

Publikováno v: Life, Vol 13, Iss 9, p 1889 (2023)

Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors. Biochemical analyses can determine the type of

Externí odkaz: https://doaj.org/article/1aa2f4fc9c104c9db505d8c902b9f107

Zobrazit plný text záznamu

Plný text ve formátu HTML

Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants

Publikováno v: Blood Advances. 7:878-892

In the era of blood group genomics, reference collections of complete and fully resolved blood group gene alleles have gained high importance. For most blood groups, however, such collections are currently lacking, as resolving full-length gene seque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4cd21d4586f352144042ba5c118236
https://doi.org/10.1182/bloodadvances.2022007133

Zobrazit plný text záznamu

Akademický článek

Genomes reveal marked differences in the adaptive evolution between orangutan species

Autor: Maja P. Mattle-Greminger, Tugce Bilgin Sonay, Alexander Nater, Marc Pybus, Tariq Desai, Guillem de Valles, Ferran Casals, Aylwyn Scally, Jaume Bertranpetit, Tomas Marques-Bonet, Carel P. van Schaik, Maria Anisimova, Michael Krützen

Publikováno v: Genome Biology, Vol 19, Iss 1, Pp 1-13 (2018)

Abstract Background Integrating demography and adaptive evolution is pivotal to understanding the evolutionary history and conservation of great apes. However, little is known about the adaptive evolution of our closest relatives, in particular if an

Externí odkaz: https://doaj.org/article/46fd2b4542f14eadb2810e6b6086bc5a

Zobrazit plný text záznamu

Novel regulatory variant in ABO intronic RUNX1 binding site inducing A3phenotype

Autor: Gian Andri Thun, Morgan Gueuning, Sonja Sigurdardottir, Eduardo Meyer, Elise Gourri, Linda Schneider, Yvonne Merki, Nadine Trost, Kathrin Neuenschwander, Charlotte Engström, Beat M. Frey, Stefan Meyer, Maja P. Mattle-Greminger

Background and ObjectivesMixed-field agglutination in ABO phenotyping (A3, B3) has been linked to genetically different blood cell populations like in chimerism, or to rare variants in eitherABOexon 7 or regulatory regions. Clarification of such case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a11727171c87c08bbaf30ee65c1cf44
https://doi.org/10.1101/2023.05.04.539366

Zobrazit plný text záznamu

Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome

Autor: Christoph, Gassner, Chantal, Brönnimann, Yvonne, Merki, Maja P, Mattle-Greminger, Sonja, Sigurdardottir, Eduardo, Meyer, Charlotte, Engström, John D, O'Sullivan, Hans H, Jung, Beat M, Frey

Publikováno v: Transfusion. 57(9)

McLeod syndrome (MLS) is hematologically defined by the absence of the red blood cell (RBC) antigen Kx on the transmembrane RBC protein, XK, representing a highly specific diagnostic marker. Direct molecular assessment of XK therefore represents a de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9d03c3d0053e2da6fbee756a19529c68
https://pubmed.ncbi.nlm.nih.gov/28555782

Zobrazit plný text záznamu