Results 261 to 270 of about 176,674 (312)

Mutation type, tyrosine kinase function in normal cell and tyrosine kinase inhibitor activity in cancers. [PDF]

Sci Rep
Vanacker H, Cassier PA, Dufresne A, Pérol M, Verlingue L, Swalduz A, Vinceneux A, Attignon V, Brahmi M, Tredan O, Tirode F, Blay J-.   +11 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Longitudinal Single‐Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X‐Linked Hypophosphatemia

Pediatric Discovery, EarlyView.
This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Yue Xie, Li Li, Rong Li, Yihong Sun, Ting Zhou, Yupeng Cun, Gaohui Zhu   +6 more
wiley   +1 more source

Response to crizotinib treatment for ROS1 p.H1999N mutation and secondary EGFR p.V774M mutation after drug resistance: a Case Report. [PDF]

Front Pharmacol
He Y, Tang Y, Yu R, Liu Y.
europepmc   +1 more source

Current Insight into Human Ornithine Aminotransferase: A Review

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Human ornithine aminotransferase (hOAT) is a mitochondrial matrix pyridoxal‐5′‐phosphate enzyme (PLP) that catalyzes the reversible transfer of the δ‐amino group of L‐ornithine (L‐Orn) to α‐ketoglutarate (α‐KG) yielding glutamate‐5‐semialdehyde (GSA) and glutamate. GSA is prone to cyclize to Δ1‐pyrroline‐5‐carboxylate.
Fulvio Floriani, Carla Borri Voltattorni, Riccardo Montioli   +2 more
wiley   +1 more source

Common human ALDH1B1 and ALDH2 variants increase neuroinflammatory response to a single ethanol dose in mice. [PDF]

Sci Adv
Seike T, Albuquerque RPE, Ferreira JCB, Chen CH, Mochly-Rosen D.   +4 more
europepmc   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

Prenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To identify prenatal predictors of tuberous sclerosis complex (TSC) in fetuses with one or more cardiac rhabdomyomas (CR), evaluate an integrated multimodal diagnostic workflow using fetal magnetic resonance imaging (MRI) and trio whole‐exome sequencing (trio‐WES) and characterize perinatal outcomes.
X. Cai, J. Liu, W. Zheng, Y. Jiao, Y. Lou, M. Deng, W. Zhao, K. Yan, L. Sun   +8 more
wiley   +1 more source

Single-nucleotide variant profiling in liquid biopsy with RECO-Cas. [PDF]

Sci Adv
Guo C, Zhang S, Yerramsetti R, Zhang J, Guan X, Yang R, Hou C, Pei M, Schalper KT, Liu X, Li Z, Perpetua L, Gan W, Ibrahim O, Clark RA, Liu C.   +15 more
europepmc   +1 more source