Results 81 to 90 of about 36,538 (290)

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs

The Journal of Clinical Investigation, 2023
Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
doaj   +1 more source

The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]

, 1977
In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Nephronectin (NPNT) is a Crucial Determinant of Idiopathic Pulmonary Fibrosis: Modulating Cellular Senescence via the ITGA3/YAP1 Signaling Axis

Advanced Science, EarlyView.
Through a comprehensive multi‐omics analysis, this study identifies a marked reduction in Nephronectin (NPNT) expression within fibrotic lung tissue. This reduction impairs the binding capability to the ITGA3 receptor, consequently causing YAP1 to persist in the cytoplasm, where it undergoes degradation.
Jiayu Guo, Yan Wang, Qiudi Liu, Zhaoyang Luo, Xiaomu Tian, Yuquan Wang, Yang Liu, Zhiwei Ning, Yingying Guo, Huiying Gao, Xinyue Wang, Jinglong Feng, Mengmeng Liu, Dina Saifullina, Yixin Zhang, Tengfei Pan, Yu Bian, Tao Ban, Tianyu Li, Yunyan Gu, Haihai Liang   +20 more
wiley   +1 more source

Griscelli syndrome type 2: Rare 3 cases from Iraq

Iraqi Journal of Hematology
Griscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978.
Mouroge Hashim AL Ani, Farah Samer Yahya
doaj   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea [PDF]

Diabetes & Metabolism Journal
Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity.
Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak   +6 more
doaj   +1 more source

Wearable Bioelectronics for Home‐Based Monitoring and Treatment of Muscle Atrophy

Advanced Science, EarlyView.
As an inevitable disease, muscle atrophy has received more attention. Because the factors that induce this disease are diverse, achieving a complete cure is still impossible. Wearable bioelectronics provides a more comfortable, low‐cost, and efficient way of home care for the monitoring and treatment of muscle atrophy. Therefore, this review summarizes
Shuai Zhang, Renjie Tan, Shuo Meng, Ke Zhang, Jinlian Hu   +4 more
wiley   +1 more source

Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]

, 2019
Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard, Hertz-Picciotto, Irva, Orozco, Jennie Sotelo, Slupsky, Carolyn M   +3 more
core   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources