Zobrazeno 1 - 10
of 51 434
pro vyhledávání: '"allele frequency."'
Autor:
Jacob Shujui Hsu, Dung-Chi Wu, Shang-Hung Shih, Jen-Feng Liu, Ya-Chen Tsai, Tung-Lin Lee, Wei-An Chen, Yi-Hsuan Tseng, Yi-Chung Lo, Hong-Ye Lin, Yi-Chieh Chen, Jing-Yi Chen, Ting-Hsuan Chou, Darby Tien-Hao Chang, Ming Wei Su, Wei-Hong Guo, Hsin-Hsiang Mao, Chien-Yu Chen, Pei-Lung Chen
Publikováno v:
Journal of Advanced Research, Vol 66, Iss , Pp 197-207 (2024)
Introduction: The population of Taiwan has a long history of ethno-cultural evolution. The Taiwanese population was isolated from other large populations such as the European, Han Chinese, and Japanese population. The Taiwan Biobank (TWB) project has
Externí odkaz:
https://doaj.org/article/49ac97eecdc7451c9babc92fcaee68af
Publikováno v:
Alexandria Journal of Medicine, Vol 60, Iss 1, Pp 259-264 (2024)
Background Acute myeloid leukemia (AML) is a clonal hematopoietic stem cell malignancy characterized by the accumulation of myeloid progenitor cells with arrested differentiation, leading to the suppression of normal hematopoiesis. The disease exhibi
Externí odkaz:
https://doaj.org/article/722ae48307d1464a98a6dc83d9f7fe80
Publikováno v:
Zhongguo shuxue zazhi, Vol 37, Iss 11, Pp 1288-1292 (2024)
[Objective] To analyze the characteristics of HLA-A, HLA-B, HLA-DRB1, HLA-C, HLA-DQB1 and HLA-DPB1 allele polymorphisms among cord blood donors in Guangdong population. [Methods] According to HLA high resolution genotyping data of 32 717 samples of c
Externí odkaz:
https://doaj.org/article/b105334e18ac490fbc9f209bd343669b
Autor:
Joana G. P. Jacinto, Tolulope G. Ogundipe, Cinzia Benazzi, Irene M. Häfliger, Luisa V. Muscatello, Marilena Bolcato, Riccardo Rinnovati, Arcangelo Gentile, Cord Drögemüller
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 38, Iss 6, Pp 3346-3357 (2024)
Abstract Background Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half‐sibling calves from consanguineous mating with congenital skel
Externí odkaz:
https://doaj.org/article/e710b8bb9ef54556b793bd3e00d4fdb0
Autor:
Ekaterina Kalashnikova, Vasily N. Aushev, Allyson Koyen Malashevich, Antony Tin, Shifra Krinshpun, Raheleh Salari, Carly Bess Scalise, Rosalyn Ram, Meenakshi Malhotra, Harini Ravi, Himanshu Sethi, Stephanie Sanchez, Robert Tanner Hagelstrom, Maxim Brevnov, Matthew Rabinowitz, Solomon Moshkevich, Bernhard G. Zimmermann, Minetta C. Liu, Alexey Aleshin
Publikováno v:
Molecular Oncology, Vol 18, Iss 11, Pp 2649-2657 (2024)
Several studies have demonstrated the prognostic value of circulating tumor DNA (ctDNA); however, the correlation of mean tumor molecules (MTM)/ml of plasma and mean variant allele frequency (mVAF; %) with clinical parameters is yet to be understood.
Externí odkaz:
https://doaj.org/article/8b2bcff23d824c9a904d5bfa7e01ecb7
Autor:
Mi-Ae Jang, Jong Kwon Lee, Jong-Ho Park, Sungsoon Hwang, Young-gon Kim, Jong-Won Kim, Youn-Ji Hong, Sang Jin Kim, Ja-Hyun Jang
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Recently, a founder Alu insertion in exon 4 of RP1 was detected in Japanese and Korean patients with inherited retinal diseases (IRDs). However, carrier frequency and diagnostic challenges for detecting AluY insertion are not established. We
Externí odkaz:
https://doaj.org/article/f042f98ef08443c5a7947d75a8f10cf5
Autor:
Julia Mestre, Lorea Chaparro, Ana Manzanares, Blanca Xicoy, Lurdes Zamora, Francesc Sole, Oriol Calvete
Publikováno v:
eJHaem, Vol 5, Iss 5, Pp 1021-1027 (2024)
Abstract Introduction Germline predisposition to myeloid neoplasms can be suspected in patients younger than 50 years or when harboring mutations with a variant allele frequency (VAF) higher than 30% for point mutations in specific genes. To investig
Externí odkaz:
https://doaj.org/article/7f06d8aeae5346b4a164946323df977d
Autor:
Zsolt Bánfai, Gergely Büki, Valerián Ádám, Katalin Sümegi, András Szabó, Kinga Hadzsiev, Krisztián Erős, Ferenc Gallyas, Attila Miseta, Miklós Kásler, Béla Melegh
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background The Csangos are an East-Central European ethnographic group living mainly in east of Transylvania in Romania. Traditionally, ethnography distinguishes three Csango subpopulations, the Moldavian, Gyimes and Burzenland Csangos. In o
Externí odkaz:
https://doaj.org/article/9184416931fb4eaca715a538d0019f2b
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract To investigate the genetic relationship between end stage renal disease (ESRD) and human leukocyte antigen (HLA) alleles in the Guangxi Zhuang population. We performed polymerase chain reaction reversed sequence-specific oligonucleotide (PCR
Externí odkaz:
https://doaj.org/article/7986720a29534b82a17b7012b6de20a7
Autor:
Won Hoon Choi, Yeijean Cho, Ju Hyuen Cha, Dae Hee Lee, Jong Gwan Jeong, Sung Ho Jung, Jae-Jin Song, Jun Ho Lee, Sang-Yeon Lee
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Advances in next-generation sequencing technologies have led to elucidation of sensorineural hearing loss genetics and associated clinical impacts. However, studies on the functional pathogenicity of variants of uncertain significance (VUS),
Externí odkaz:
https://doaj.org/article/1b056249d8e546618ee0ff7a8b3b5ca8