Results 221 to 230 of about 241,061 (333)

Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA‐CESNE Cohort

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Mutations in progranulin (GRN) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients. Cases We report three subjects from the PADUA‐CESNE cohort, meeting diagnostic criteria for PD, with onset under age 55.
Giulia Bonato, Marta Campagnolo, Aron Emmi, Valentina Misenti, Tommaso Carrer, Carmelo Fogliano, Leonardo Salviati, Miryam Carecchio, Angelo Antonini   +8 more
wiley   +1 more source

NRF2 signalling in cytoprotection and metabolism

British Journal of Pharmacology, EarlyView., 2023
The KEAP1‐NRF2 system plays a central role in cytoprotection in defence mechanisms against oxidative stress. The KEAP1‐NRF2 system has been regarded as a sulfur‐utilizing cytoprotective mechanism, because KEAP1 serves as a biosensor for electrophiles by using its reactive thiols and NRF2 is a transcriptional factor regulating genes involved in sulfur ...
Shohei Murakami, Yusuke Kusano, Keito Okazaki, Takaaki Akaike, Hozumi Motohashi   +4 more
wiley   +1 more source

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

J Multidiscip Healthc
Dong J, Zhang W, Chen Q, Zha L.
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

PRITrans: A Transformer-Based Approach for the Prediction of the Effects of Missense Mutation on Protein-RNA Interactions. [PDF]

Int J Mol Sci
Ge F, Li CF, Zhang CM, Zhang M, Yu DJ.
europepmc   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

A Family with Liddle’s Syndrome Caused by a New Missense Mutation in the β Subunit of the Epithelial Sodium Channel [PDF]

, 1998
Junnosuke Inoue, Taisuke Iwaoka, Hiroshi Tokunaga, Kazufumi Takamune, Shojiro Naomi, Masatake Araki, Kazuo Takahama, Kohei Yamaguchi, Kimio Tomita   +8 more
openalex   +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

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation inCPS1

, 1998
Ulrich Finckh, Alfried Kohlschütter, Hansjörg Schäfer, Katja Sperhake, Jean‐Pierre Colombo, Andreas Gal   +5 more
openalex   +1 more source

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source