Zobrazeno 1 - 10
of 1 023
pro vyhledávání: '"acmg"'
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
Autor:
Jane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, Elisabeth Victoria Eliesen, Lene Juel Rasmussen, Katja Venborg Pedersen, Lana Al‐Zehhawi, Susanne E. Boonen, Lotte Krogh, Karina Rønlund, Lise Graversen, Jannie Assenholt, Kjeld Schmiegelow, Karin Wadt, Anne‐Marie Gerdes, Thomas v. O. Hansen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.(Cy
Externí odkaz:
https://doaj.org/article/3138d238b0bc48cdadc8df08238a908f
Autor:
Mariia Gusakova, Irina Dzhumaniiazova, Elena Zelenova, Daria Kashtanova, Mikhail Ivanov, Aleksandra Mamchur, Antonina Rumyantseva, Mikhail Terekhov, Sergey Mitrofanov, Liliya Golubnikova, Aleksandra Akinshina, Konstantin Grammatikati, Irina Kalashnikova, Vladimir Yudin, Valentin Makarov, Anton Keskinov, Sergey Yudin
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
BackgroundPopulation studies are essential for gathering critical disease prevalence data. Automated pathogenicity assessment tools enhance the capacity to interpret and annotate large amounts of genetic data. In this study, we assessed the prevalenc
Externí odkaz:
https://doaj.org/article/0a05383c55ae4bb28d54115409e25fc5
Autor:
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Rulai Han, Lei Ye, Yifei Zhang, Jie Hong, Weiqing Wang, Guang Ning, Weiqiong Gu
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as di
Externí odkaz:
https://doaj.org/article/ce5c793a14e54f4d9c3dc7a832237736
Autor:
Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, Frank van Steenbeek, Ingrid Ljungvall, Leslie A. Lyons, Maria Longeri, Åsa Ohlsson, Luc Peelman, Caroline Dufaure de Citres, Pascale Smets, Maria Elena Turba, Bart J. G. Broeckx
Publikováno v:
Frontiers in Veterinary Science, Vol 11 (2024)
Externí odkaz:
https://doaj.org/article/0c8f7bb9e3d446b4be5eba641a017691
Publikováno v:
Heliyon, Vol 10, Iss 11, Pp e31885- (2024)
Background: Dystonia is a kind of movement disorder but its pathophysiological mechanisms are still largely unknown. Recent evidence reveals that genetical defects may play important roles in the pathogenesis of dystonia. Objectives and Methods: -To
Externí odkaz:
https://doaj.org/article/1856ea79002e4b52868a9c15ff079db8
Autor:
Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-14 (2023)
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant enrichment among cases as "strong" evidence for pathogenicity per the PS4 criterion. However
Externí odkaz:
https://doaj.org/article/cde1251227894591acb952b830dfdbce
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%. Methods We performed whole exome sequencing for the patient with ID. And the splicing variant we fo
Externí odkaz:
https://doaj.org/article/895e750437aa4393a10099f8596f1cc3
Autor:
Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, Frank van Steenbeek, Ingrid Ljungvall, Leslie A. Lyons, Maria Longeri, Åsa Ohlsson, Luc Peelman, Caroline Dufaure de Citres, Pascale Smets, Maria Elena Turba, Bart J. G. Broeckx
Publikováno v:
Frontiers in Veterinary Science, Vol 11 (2024)
IntroductionThe correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In hu
Externí odkaz:
https://doaj.org/article/8d413a9679ba4823bbd35a7e66e7bb10
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101841- (2024)
Purpose: Variant interpretation, guided by American College of Medical Genetics and Genomics guidelines, can inform clinical decision-making. However, interpretations may change over time for a variety of reasons. Periodic reanalysis of previous vari
Externí odkaz:
https://doaj.org/article/22de3a1ebdba43f794fa287d32f4ac55