云南高校图书馆联盟文献共享服务平台- World Journal of Medical Genetics

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Circular RNA: The evolving potential in the disease world: 《World Journal of Medical Genetics》2024年第1期1-16,共16页Aarti Sharma Cherry Bansal Kiran Lata Sharma Ashok Kumar; Circular RNAs(circRNAs),a new star of noncoding RNAs,are a group of endogenous RNAs that form a covalently closed circle and occur widely in the mammalian genome.Most circRNAs are conserved throughout species and fre-...; 关键词：Circular RNAs Cancer MicroRNA sponges Biomarkers Long noncoding RNA RNA biology

Clinical utilities and end-user experience of pharmacogenomics:39 mo of clinical implementation experience in an Australian hospital setting: 《World Journal of Medical Genetics》2023年第4期39-50,共12页Rosalind Moxham Andrew Tjokrowidjaja Sophie Devery Renee Smyth Alison McLean Darren M Roberts Kathy H C Wu; Supported by Partially funded by St Vincent’s Health Australia Inclusive Health Program;Early Career Research Grant from Avant.; BACKGROUND Pharmacogenomics(PG)testing is under-utilised in Australia.Our research provides Australia-specific data on the perspectives of patients who have had PG testing and those of the clinicians involved in their...; 关键词：Pharmacogenomics testing Clinical adoption Drug gene interactions Clinician perspectives Patient perspectives

Role of IL-2/IL-2 receptor in pathogenesis of autoimmune disorders:Genetic and therapeutic aspects: 《World Journal of Medical Genetics》2023年第3期28-38,共11页Sana Rafaqat Saira Rafaqat; Interleukin-2(IL-2)is an important cytokine that plays a key role in the immune response.The IL-2 receptor(IL-2R)is composed of three subunits,alpha,beta,and gamma,with the alpha subunit having the highest affinity fo...; 关键词：IL-2 IL-2R PATHOGENESIS Autoimmune diseases Systemic lupus erythematosus Rheumatoid arthritis Systemic sclerosis Sjogren syndrome Multiple sclerosis

Genome-wide associations, polygenic risk, and Mendelian randomization reveal limited interactions between John Henryism and cynicism: 《World Journal of Medical Genetics》2023年第2期8-20,共13页Richard R Chapleau; BACKGROUND John Henryism(JH)is a strategy for dealing with chronic psychological stress characterized by high levels of physical effort and work.Cynicism is a belief that people are motivated primarily by self-interes...; 关键词：CYNICISM Burnout syndrome John Henryism Genome-wide association study Polygenic risk score MACHINE-LEARNING

Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype:A case report: 《World Journal of Medical Genetics》2023年第2期21-27,共7页Roberto Franceschi Francesca Rivieri Antonio Novelli Daniele Ferretti Adriano Anesi Massimo Soffiati Giulia Porretti Evelina Maines Mafalda Mucciolo Giorgio Radetti; BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 years.Somati...; 关键词：ANKRD11 KBG MOSAIC HESX1 CHILD Case report

Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome:A case report: 《World Journal of Medical Genetics》2023年第1期1-7,共7页Sara Esmaeili Cory J Xian; BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about ...; 关键词：Tetrasomy 18p Phenotypic features Clinical features Chromosome abnormality Cytogenetic analysis Case report

Epigenetics in the etiology and management of infertility: 《World Journal of Medical Genetics》2022年第2期7-21,共15页Tajudeen Olanrewaju Yahaya Danlami M Bashar Esther O Oladele Ja'afar Umar Daniel Anyebe Abdulrazaq Izuafa; BACKGROUND Epigenetic disruptions have been implicated in some cases of infertility and can serve as therapeutic targets.However,the involvement of epigenetics in infertility has not received adequate attention.AIM Th...; 关键词：DNA methylation GAMETOGENESIS INFERTILITY Polycystic ovary syndrome OLIGOZOOSPERMIA TERATOZOOSPERMIA

Celiac sprue-a cryptic disease:A case report: 《World Journal of Medical Genetics》2022年第1期1-6,共6页Lisa R Maness; BACKGROUND Celiac sprue,or celiac disease,is a relatively common disease whereby many are unaware that they have it.It often manifests with symptoms outside of the digestive system.Many health care providers are unawa...; 关键词：Celiac disease Autoimmune disease SHINGLES Infectious mononucleosis Case report

Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family被引量：2: 《World Journal of Medical Genetics》2020年第1期1-11,共11页Paolo Fontana Francesco Fioravanti Passaretti Marianna Maioli Giuseppina Cantalupo Francesca Scarano Fortunato Lonardo; Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arche...; 关键词：CHROMATIN Chromatin remodeling Chromatinopathies Wiedemann-Steiner syndrome Hairy elbows KMT2A

Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer: 《World Journal of Medical Genetics》2018年第1期1-4,共4页Amrit Lamba Parth Parekh Chris T Dvorak Jordan J Karlitz; We present a patient with a history of colonic polyposis and family history significant for colon polyps and colorectal cancer(CRC). The patient and the family also had a history of bone loss of the jaw and early toot...; 关键词：COLONIC POLYPS COLORECTAL CANCER CANCER GENETICS CANCER syndrome Cell signaling Case report

《World Journal of Medical Genetics》