Results 21 to 30 of about 47,631 (258)

Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America

Case Reports in Genetics, 2023
Introduction. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been
Emilio Israel Wong-Valenzuela, Daniel San Juan, José Santos Zambrano, Alejandra Camacho Molina, Miguel Angel Morales-Morales, Alejandro Lopez-Landa   +5 more
doaj   +1 more source

Addressing the routine failure to clinically identify monogenic cases of common disease

Genome Medicine, 2022
Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical ...
Michael F. Murray, Muin J. Khoury, Noura S. Abul-Husn   +2 more
doaj   +1 more source

Cas-Based Systems for RNA Editing in Gene Therapy of Monogenic Diseases: In Vitro and in Vivo Application and Translational Potential

Frontiers in Cell and Developmental Biology, 2022
Rare genetic diseases reduce quality of life and can significantly shorten the lifespan. There are few effective treatment options for these diseases, and existing therapeutic strategies often represent only supportive or palliative care.
Vasiliy V. Reshetnikov, Vasiliy V. Reshetnikov, Angelina V. Chirinskaite, Julia V. Sopova, Julia V. Sopova, Roman A. Ivanov, Elena I. Leonova, Elena I. Leonova   +7 more
doaj   +1 more source

Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions

Rambam Maimonides Medical Journal, 2018
Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES).
Joshua D. Milner
doaj   +1 more source

Specialist physicians’ referral behavior regarding preimplantation genetic testing for single-gene disorders: Is there room to grow?

F&S Reports, 2021
Objective: To assess whether primary care specialists’ demographics, specialty, and knowledge of preimplantation genetic testing for monogenic disorders (PGT-M) influence their practice patterns. Design: Cross-sectional survey study.
Sarah Capelouto, M.D., Melanie Evans, M.D., Jennifer Shannon, M.D., Katelyn Jetelina, Ph.D., M.P.H., Orhan Bukulmez, M.D., Bruce Carr, M.D.   +5 more
doaj   +1 more source

Elevated plasma concentrations of lipoprotein (a) are associated with cardiovascular diseases in patients with early-onset type 2 diabetes mellitus

Frontiers in Endocrinology
ObjectiveTo ascertain whether vascular complications and high lipoprotein (a) [Lp(a)] concentrations are related in individuals with early-onset type 2 diabetes mellitus (T2DM).MethodsThis observational cross-sectional study included 591 individuals with
Juan Zhang, Juan Zhang, Jingjing Sang, Jingjing Sang, Yanyan Jiang, Yi Zheng, Yi Zheng, Jing Zhang, Jing Zhang, Xuesen Liu, Huafeng Qiu, Huafeng Qiu, Kaijian Zhao, Kaijian Zhao, Hongmei Sun, Yang Yang, Hao Chen, Lei Yang, Lei Yang   +18 more
doaj   +1 more source

Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype

Frontiers in Genetics, 2022
Background: Non-invasive prenatal diagnosis (NIPD) can identify monogenic diseases early during pregnancy with negligible risk to fetus or mother, but the haplotyping methods involved sometimes cannot infer parental inheritance at heterozygous maternal ...
Jia Li, Jia Li, Jiaqi Lu, Fengxia Su, Fengxia Su, Jiexia Yang, Jiexia Yang, Jia Ju, Yu Lin, Jinjin Xu, Yiming Qi, Yiming Qi, Yaping Hou, Yaping Hou, Jing Wu, Jing Wu, Wei He, Wei He, Zhengtao Yang, Zhengtao Yang, Yujing Wu, Yujing Wu, Zhuangyuan Tang, Zhuangyuan Tang, Yingping Huang, Yingping Huang, Guohong Zhang, Guohong Zhang, Ying Yang, Ying Yang, Zhou Long, Xiaofang Cheng, Ping Liu, Jun Xia, Yanyan Zhang, Yicong Wang, Fang Chen, Jianguo Zhang, Jianguo Zhang, Lijian Zhao, Lijian Zhao, Lijian Zhao, Xin Jin, Ya Gao, Ya Gao, Aihua Yin, Aihua Yin   +46 more
doaj   +1 more source

Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population

Frontiers in Pediatrics, 2018
Background: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney disease in children and young adults. Despite advances in genomic science that have led to the discovery of >50 monogenic causes of SRNS, there are no clear
Jennifer D. Varner, Jennifer D. Varner, Megan Chryst-Stangl, Megan Chryst-Stangl, Christopher Imokhuede Esezobor, Adaobi Solarin, Guanghong Wu, Guanghong Wu, Brandon Lane, Brandon Lane, Gentzon Hall, Gentzon Hall, Asiri Abeyagunawardena, Ayo Matory, Tracy E. Hunley, Jen Jar Lin, David Howell, Rasheed Gbadegesin, Rasheed Gbadegesin   +18 more
doaj   +1 more source

Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype–phenotype correlations in Chinese Han children with urolithiasis

Frontiers in Genetics, 2023
The incidence of urolithiasis (UL) in children has been increasing. Although the pathogenesis of pediatric UL is controversial and remains unclear, multiple monogenic causes of UL have been identified. We aim to investigate the prevalence of inherited UL
Zhi Wang, Tianqu He, Li liu, Fangyun Tong, Chuangye Li, Yaowang Zhao, Yanfang Li   +6 more
doaj   +1 more source

Prenatal genetic diagnosis of monogenic diseases

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2023
Abstract Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be performed through invasive and non-invasive methods.
Prior-de Castro, Carmen, Gómez-González, Clara, Rodríguez-López, Raquel, Macher, Hada C., Comisión de Diagnóstico Prenatal y la Comisión de Genética de la Sociedad Española de Medicina de Laboratorio   +4 more
openaire   +6 more sources