Výsledky vyhledávání - "recurrent mutation"

Akademický článek

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Autor: Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

Abstract Background The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was observed in nine f

Externí odkaz: https://doaj.org/article/ec0bef1929b34672b754c194513f25b6

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Akademický článek

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Akademický článek

Influence of T Cell-Mediated Immune Surveillance on Somatic Mutation Occurrences in Melanoma

Autor: Chongming Jiang, Evelien Schaafsma, Wei Hong, Yanding Zhao, Ken Zhu, Cheng-Chi Chao, Chao Cheng

Publikováno v: Frontiers in Immunology, Vol 12 (2022)

BackgroundNeoantigens are presented on the cancer cell surface by peptide-restricted human leukocyte antigen (HLA) proteins and can subsequently activate cognate T cells. It has been hypothesized that the observed somatic mutations in tumors are shap

Externí odkaz: https://doaj.org/article/39e94ce6832542629e0c0492f60c8af4

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Akademický článek

Comparative efficiency of irradiation and its recurrent mutation on induced variability and population characteristics in rice (Oryza sativa L.)

Autor: D. V. Sushmitharaj, P. Arunachalam, C. Vanniarajan, J. Souframanien and, E. Subramanian

Publikováno v: Electronic Journal of Plant Breeding, Vol 10, Iss 2, Pp 542-551 (2019)

The present study was carried out to elucidate the mutagenic efficiency of gamma rays (100 Gy, 150 Gy), electron beam (100 Gy, 150 Gy) used alone and in combination with EMS (30mM) as a recurrent treatment in the subsequent generation of Anna (R) 4

Externí odkaz: https://doaj.org/article/97333115c63c4da38cc73565c3f3313d

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Akademický článek

Application of the Moran Model in Estimating Selection Coefficient of Mutated CSF3R Clones in the Evolution of Severe Congenital Neutropenia to Myeloid Neoplasia

Autor: Khanh N. Dinh, Seth J. Corey, Marek Kimmel

Publikováno v: Frontiers in Physiology, Vol 11 (2020)

Bone marrow failure (BMF) syndromes, such as severe congenital neutropenia (SCN) are leukemia predisposition syndromes. We focus here on the transition from SCN to pre-leukemic myelodysplastic syndrome (MDS). Stochastic mathematical models have been

Externí odkaz: https://doaj.org/article/167dab077cee4ee9b2c205c7ad569103

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Akademický článek

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report

Autor: Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh, Márta Széll

Publikováno v: BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)

Abstract Background Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC2

Externí odkaz: https://doaj.org/article/c6938e8e1fa34928afb5065d8f5038e5

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Akademický článek

Hereditary breast and ovarian cancer in Andalusian families: a genetic population study

Autor: Bella Pajares, Javier Porta, Jose María Porta, Cristina Fernández-de Sousa, Ignacio Moreno, Daniel Porta, Gema Durán, Tamara Vega, Inmaculada Ortiz, Carolina Muriel, Emilio Alba, Antonia Márquez

Publikováno v: BMC Cancer, Vol 18, Iss 1, Pp 1-12 (2018)

Abstract Background The BRCA1/2 mutation profile varies in Spain according to the geographical area studied. The mutational profile of BRCA1/2 in families at risk for hereditary breast and ovarian cancer has not so far been reported in Andalusia (sou

Externí odkaz: https://doaj.org/article/81530c87878748e7bf11b09d7c83bce2

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Akademický článek

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High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control

Autor: Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani

Publikováno v: BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)

Abstract Background To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan

Externí odkaz: https://doaj.org/article/7a13207686c44ca9826f149c3399b289

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