Results 281 to 290 of about 1,506,824 (383)

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter]. [PDF]

J Multidiscip Healthc
Idrus HH.
europepmc   +1 more source

Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense [PDF]

, 1998
Leena Pulkkinen, Fatima Rouan, Leena Bruckner–Tuderman, Robert Wallerstein, Maria C. Garzón, Tod A. Brown, Lynne T. Smith, William Carter, Jouni Uitto   +8 more
openalex   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures. [PDF]

Epilepsia Open
Liu Z, He M, Luo X, Pan H, Mao X, Su J.
europepmc   +1 more source

From multi‐omics to precision medicine in intracranial aneurysm: Biomarker discovery and multimodal integration

Interdisciplinary Medicine, EarlyView.
This review explores intracranial aneurysm biomarker discovery through multi‐omics. It reveals key genes, proteins, and metabolites, and shows how machine‐learning‐based multi‐modal integration may aid diagnosis and treatment. Abstract Despite extensive research, currently, no biomarkers are available for clinical use in intracranial aneurysm (IA ...
Jiaxin Zhang, Yufei Yang, Bingxu Chen, Yanmeng Zhao, Haitao Sun   +4 more
wiley   +1 more source

Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys). [PDF]

Endocrinol Diabetes Metab Case Rep
Prehn EL, Crowley M, Fennell D, Kinsley BT, Colclough K, Byrne MM.   +5 more
europepmc   +1 more source

Genetic and Molecular Analysis of a tRNALeu Missense Suppressor of nudC3, a Mutation That Blocks Nuclear Migration in Aspergillus nidulans [PDF]

, 1997
Ya-Hui Chiu, N. Ronald Morris
openalex   +1 more source

Preoperative Multifrequency MR Elastography for Stratifying Wnt/β‐Catenin Pathway and Microvascular Invasion Phenotypes in Hepatocellular Carcinoma

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background The Wnt/β‐catenin signaling pathway and microvascular invasion (MVI) are associated with the prognosis of hepatocellular carcinoma (HCC). Purpose To evaluate the Wnt/β‐catenin pathway and MVI states using preoperative MR elastography (MRE). Study Type Prospective.
Huanhuan Chong, Yuchen Yang, Ruokun Li, Weiwei Rui, Jiahao Zhou, Yikun Wang, Qi Lin, Jing Guo, Huimin Lin, Fuhua Yan   +9 more
wiley   +1 more source

The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report. [PDF]

J Med Case Rep
He F, Wang Y, Ning W, Liu C, Guan X, Yao Y.   +5 more
europepmc   +1 more source

Homozygosity for a variant in SLC10A2 and infancy onset severe fat‐soluble vitamin deficiency due to bile acid malabsorption

JPGN Reports, EarlyView.
Abstract We present a case of a young female patient with persistent and severe fat‐soluble vitamin deficiency since infancy. Despite extensive investigations during childhood, the underlying cause remained elusive. The patient was generally asymptomatic while receiving continuous vitamin subsidy.
Christine Rungoe, Stefan Stender, Nawar Dalila, Emil D. Bartels, Christian Jakobsen   +4 more
wiley   +1 more source