Results 11 to 20 of about 108,497 (68)

Cемейная гиперхолестеринемия: современные сведения и проблемы моделирования [PDF]

Письма в Вавиловский журнал генетики и селекции
Семейная гиперхолестеринемия – наследственное моногенное заболевание, приводящее к атеросклерозу и повы- шенному риску сердечно-сосудистых патологий. Несмотря на высокую частоту встречаемости (1 на 250 человек для гетерози- готной формы, 1 на 300 тыс. –
И.С. Захарова, А.И. Шевченко, С.М. Закиян   +2 more
doaj   +1 more source

Small supernumerary marker chromosomes derived from human chromosome 11

Frontiers in Genetics, 2023
Introduction: With only 39 reported cases in the literature, carriers of a small supernumerary marker chromosome (sSMC) derived from chromosome 11 represent an extremely rare cytogenomic condition.Methods: Herein, we present a review of reported sSMC(11),
Thomas Liehr, Monika Ziegler, Luisa Person, Stefanie Kankel, Niklas Padutsch, Anja Weise, Jörg Paul Weimer, Heather Williams, Susana Ferreira, Joana B. Melo, Isabel M. Carreira   +10 more
doaj   +1 more source

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

Frontiers in Genetics, 2023
Uniparental disomy (UPD) is the inheritance of both alleles of a chromosome from only one parent. So far, the detection of UPDs in sequencing data is not well established and a known gap in next-generation sequencing (NGS) diagnostics.
Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann   +8 more
doaj   +1 more source

Identifying potential drug targets for varicose veins through integration of GWAS and eQTL summary data

Frontiers in Genetics
BackgroundVaricose veins (VV) are a common chronic venous disease that is influenced by multiple factors. It affects the quality of life of patients and imposes a huge economic burden on the healthcare system.
Yu Cui, Mengting Hu, He Zhou, Jiarui Guo, Qijia Wang, Zaihua Xu, Liyun Chen, Liyun Chen, Liyun Chen, Wancong Zhang, Wancong Zhang, Wancong Zhang, Shijie Tang, Shijie Tang, Shijie Tang   +14 more
doaj   +1 more source

Translation, validation, and comparison of genetic knowledge scales in Greek and German

Frontiers in Genetics
Introduction: Advances in biosciences have significantly expanded our knowledge and capabilities in medicine and technology. Genetic tests can now predict hereditary predisposition or susceptibility to diseases, while gene-editing tools like CRISPR/Cas ...
Florian Melchior, Konrad Beyreuther, Birgit Teichmann   +2 more
doaj   +1 more source

Tumor-associated macrophage subtypes on cancer immunity along with prognostic analysis and SPP1-mediated interactions between tumor cells and macrophages.

PLoS Genetics
Tumor-associated macrophages (TAM) subtypes have been shown to impact cancer prognosis and resistance to immunotherapy. However, there is still a lack of systematic investigation into their molecular characteristics and clinical relevance in different ...
Liu Xu, Yibing Chen, Lingling Liu, Xinyu Hu, Chengsi He, Yuan Zhou, Xinyi Ding, Minhua Luo, Jiajing Yan, Quentin Liu, Hongsheng Li, Dongming Lai, Zhengzhi Zou   +12 more
doaj   +1 more source

Deciphering the role of apoptosis signature on the immune dynamics and therapeutic prognosis in breast cancer: Implication for immunotherapy

Frontiers in Genetics
Background: In breast cancer oncogenesis, the precise role of cell apoptosis holds untapped potential for prognostic and therapeutic insights. Thus, it is important to develop a model predicated for breast cancer patients’ prognosis and immunotherapy ...
Yunfang Yu, Yunfang Yu, Xueyuan Jia, Sunyu Chen, Zijia Lai, Heran Deng, Yuqian Mo, Xinxin Xie, Zehua Wang, Ruichong Lin, Ruichong Lin, Wenhao Ouyang, Herui Yao, Jiannan Wu   +13 more
doaj   +1 more source

Clinical relevance of HLA-DQ eplet mismatch and maintenance immunosuppression with risk of allosensitization after kidney transplant failure

Frontiers in Genetics
The optimal immunosuppression management in patients with a failed kidney transplant remains uncertain. This study analyzed the association of class II HLA eplet mismatches and maintenance immunosuppression with allosensitization after graft failure in a
Jenny Tran, Ibrahim Alrajhi, Doris Chang, Karen R. Sherwood, Paul Keown, Paul Keown, Jagbir Gill, Jagbir Gill, Matthew Kadatz, Matthew Kadatz, John Gill, John Gill, James H. Lan, James H. Lan, James H. Lan   +14 more
doaj   +1 more source

RETRACTED: Mitochondrial-Associated Protein LRPPRC is Related With Poor Prognosis Potentially and Exerts as an Oncogene Via Maintaining Mitochondrial Function in Pancreatic Cancer

Frontiers in Genetics, 2022
Background: The mitochondrial-associated protein leucine-rich pentatricopeptide repeat-containing (LRPPRC) exerts multiple functions involved in physiological processes, including mitochondrial gene translation, cell cycle progression, and tumorigenesis.
Li Wang, Jun Luo, Yuchen Li, Yanrong Lu, Yi Zhang, Bole Tian, Ziyi Zhao, Qiong-ying Hu   +7 more
doaj   +1 more source

LGC-DBP: the method of DNA-binding protein identification based on PSSM and deep learning

Frontiers in Genetics
The recognition of DNA Binding Proteins (DBPs) plays a crucial role in understanding biological functions such as replication, transcription, and repair.
Yiqi Zhu, Ailun Sun
doaj   +1 more source