Results 81 to 90 of about 221,633 (255)

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

The Application of Clinical Genetics, 2020
Laura Torres-Canchala,1 Daniela Castaño,2 Nathalia Silva,2 Ana María Gómez,2 Alejandro Victoria,3 Harry Pachajoa4,5 1Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia; 2Newborn Intensive Care ...
Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H   +5 more
doaj  

Role of Pentacyclic Triterpenoids in Chemoprevention and Anticancer Treatment: An Overview on Targets and Underling Mechanisms

Journal of Pharmacopuncture, 2019
DNA: Deoxyribonucleic acid, BRCA1: Breast cancer gene 1, BRCA2: Breast cancer gene 2,WHO: World Health Organization, Nrf2: Nuclear factor erythroid 2 [NF-E2]-related factor 2 , NF-κB: Nuclear factor kappa-light-chain-enhancer of activated B cells, MDR ...
Mahavir H. Ghante, Prasad G. Jamkhande
doaj   +1 more source

Hepatocyte growth factor, keratinocyte growth factor, their receptors, fibroblast growth factor receptor-2, and the cells of the cornea.

Investigative ophthalmology & visual science, 1993
The purpose of this study was to determine whether messenger RNA coding for hepatocyte growth factor (HGF), HGF receptor (MET), keratinocyte growth factor (KGF), KGF receptor, and fibroblast growth factor (FGF) receptor-2 were produced in primary cultures of human corneal epithelial, stromal fibroblast, and endothelial cells, as well as ex vivo corneal
S E, Wilson, J W, Walker, E L, Chwang, Y G, He   +3 more
openaire   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Up-Regulated FGFR1 Expression as a Mediator of Intrinsic TKI Resistance in EGFR-Mutated NSCLC

Translational Oncology, 2019
Non-small cell lung carcinoma patients with epidermal growth factor receptor (EGFR) mutations are offered EGFR tyrosine kinase inhibitors (TKI) as first line treatment, but 20–40% of these patients do not respond.
Kristine Raaby Gammelgaard, Johan Vad-Nielsen, Michelle Simone Clement, Simone Weiss, Tina Fuglsang Daugaard, Frederik Dagnæs-Hansen, Peter Meldgaard, Boe Sandahl Sorensen, Anders Lade Nielsen   +8 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Crouzon Syndrome: Report in a Family [PDF]

Journal of Clinical and Diagnostic Research, 2016
Dhanya S. Kumar, Devaki Murugesan, Kandasamy Murugan, Divya Subramanian, S. Uma Maheshwari   +4 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian, Minghui Zhao, Yuanbo Hu, Kaiyue Wang, Haiguang Liu, Zetong Bai, Kebin Zheng   +6 more
wiley   +1 more source

Light‐Assisted 3D Printing Techniques and Photocrosslinking Strategies: Recent Advances in Musculoskeletal Tissue Engineering

Advanced Engineering Materials, EarlyView.
In this review, the current state of light‐assisted 3D printing as it pertains to engineering musculoskeletal tissues including bone, cartilage, skeletal muscle, tendon, and ligaments is summarized. Common printing techniques, photoreactive materials, and study design choices are compiled and reviewed.
Meagan Morgan, Bin Zhang, Roger Narayan
wiley   +1 more source