Results 151 to 160 of about 183,801 (267)

MAF studies

Journal of Equine Veterinary Science, 1999
openaire   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo. [PDF]

Hum Genome Var
Pasha F, Urbančič D, Gosheva G, Zhubi B, Maliqi Qormemeti S, Krasniqi S, Mlinarič-Raščan I.   +6 more
europepmc   +1 more source

Clinicopathological characteristics of patients with inoperable non‐small cell lung cancer harboring circulating NRF2 pathway mutations

The Journal of Pathology, EarlyView.
Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen, Satu Tiainen, Jouni Kujala, Linnea Muhonen, Ponnuswamy Mohanasundaram, Tuomas Tikkanen, Ina Pöhner, Tommi Patinen, Simone Adinolfi, Juha P Väyrynen, Päivi Auvinen, Arto Mannermaa, Petri Pölönen, Tuomas Rauramaa, Anna‐Liisa Levonen   +14 more
wiley   +1 more source

Comparison of Mechanical and Corrosion Properties Between Coarse-Grained and Ultrafine-Grained High-Strength Aluminum Alloys. [PDF]

Materials (Basel)
Zhao X, Shao Y, Xu G, Liu T, Liu D, Lin G.   +5 more
europepmc   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

The Journal of Pathology, EarlyView.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi, Yu Huang, Xiaohuan Su, Lisheng Yu, Yixin Zhao, Jing Cheng   +5 more
wiley   +1 more source

Pharmacogenomic diversity among Arab populations: A systematic review. [PDF]

iScience
Al-Mahayri ZN, Alqasrawi MN, Khasawneh LQ, Altoum SM, Albawa'neh AS, Dabaghie L, Ali BR.   +6 more
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories.
Ashley J. Pritchard, Karen Mei Xian Lim, Graeme Smith, Elizabeth Scotchman, Alexander Gibbs, Patrick Lombard, Natalie J. Chandler   +6 more
wiley   +1 more source

Study on the Immobilization of Horseradish Peroxidase on a Multi-Level Composite Carrier SiO₂@MnO₂@MAF-7. [PDF]

Materials (Basel)
Huang M, Zhang B, Jiang X, Jiang M, Yin P, Fang X, Lin Y, Ma F.   +7 more
europepmc   +1 more source